Raras
Buscar doenças, sintomas, genes...
Doença do metabolismo dos aminoácidos sulfurados ou da transferência citosólica do grupo metila
ORPHA:79173CID-10 · E72.1CID-11 · 5C50.BDOENÇA RARA

Uma doença metabólica genética que ocorre devido a um problema na forma como o corpo processa certos aminoácidos que contêm enxofre.

Mantido por Agente Raras·Colaborar como especialista →

Introdução

O que você precisa saber de cara

📋

Uma doença metabólica genética que ocorre devido a um problema na forma como o corpo processa certos aminoácidos que contêm enxofre.

🏥
SUS: Cobertura mínimaScore: 35%
Centros em: PA, PR, SC, RS, ES +8CID-10: E72.1
🇧🇷Dados SUS / DATASUS
PROCEDIMENTOS SIGTAP (7)
0202010279
Dosagem de aminoácidos (erros inatos)metabolic_test
0202010295
Dosagem de ácidos orgânicos na urinagenetic_test
0202010490
Teste de triagem para erros inatos do metabolismonewborn_screening
0202010694
Sequenciamento completo do exoma (WES)rehabilitation
0202080013
Teste do pezinho (triagem neonatal)nutritional
0301070040
Atendimento em reabilitação — doenças raras
+1 outros procedimentos
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Entender a doença

Do básico ao detalhe, leia no seu ritmo

Preparando trilha educativa...

Sinais e sintomas

O que aparece no corpo e com que frequência cada sintoma acontece

Partes do corpo afetadas

🧠
Neurológico
66 sintomas
🦴
Ossos e articulações
25 sintomas
👁️
Olhos
22 sintomas
🩸
Sangue
21 sintomas
🫃
Digestivo
19 sintomas
❤️
Coração
19 sintomas

+ 146 sintomas em outras categorias

Características mais comuns

Atrofia da medula espinhal
Padrão anormal de respiração
Náusea e vômito
Testa proeminente
Aminoacidúria
Anormalidade da textura capilar
397sintomas
Sem dados (397)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 397 características clínicas mais associadas, ordenadas por frequência.

Atrofia da medula espinhalAtrophy of the spinal cord
Padrão anormal de respiraçãoAbnormal pattern of respiration
Náusea e vômitoNausea and vomiting
Testa proeminenteProminent forehead
AminoacidúriaAminoaciduria

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa12
Últimos 10 anos190publicações
Pico202525 papers
Linha do tempo
20202014Hoje · 2026📈 2025Ano de pico
Publicações por ano (últimos 10 anos)

Encontrou um erro ou informação desatualizada? Sugira uma correção →

Genética e causas

O que está alterado no DNA e como passa nas famílias

Genes associados

21 genes identificados com associação a esta condição.

ADKAdenosine kinaseDisease-causing germline mutation(s) inTolerante
FUNÇÃO

Adenosine kinase that mediates the phosphorylation of the purine nucleoside adenosine at the 5' position in an ATP-dependent manner: catalyzes phosphorylation of both unmodified and modified adenosines (PubMed:21963049, PubMed:40840445, PubMed:6246102, PubMed:8577746, PubMed:9070863). Plays a key role in the detoxification of modified adenosines containing N(6)-methylated adenine (m6A) post-transcriptional modification (PubMed:40840445). Modified nucleosides are derived from the degradation of R

LOCALIZAÇÃO

Cytoplasm, cytosolNucleusCytoplasm

VIAS BIOLÓGICAS (2)
Purine salvageRibavirin ADME
MECANISMO DE DOENÇA

Hypermethioninemia due to adenosine kinase deficiency

A metabolic disorder characterized by global developmental delay, early-onset seizures, mild dysmorphic features, and characteristic biochemical anomalies, including persistent hypermethioninemia with increased levels of S-adenosylmethionine and S-adenosylhomocysteine. Homocysteine levels are typically normal.

OUTRAS DOENÇAS (1)
adenosine kinase deficiency
HGNC:257UniProt:P55263
SELENBP1Methanethiol oxidaseCandidate gene tested inTolerante
FUNÇÃO

Catalyzes the oxidation of methanethiol, an organosulfur compound known to be produced in substantial amounts by gut bacteria (PubMed:29255262). Selenium-binding protein which may be involved in the sensing of reactive xenobiotics in the cytoplasm. May be involved in intra-Golgi protein transport (By similarity)

LOCALIZAÇÃO

NucleusCytoplasm, cytosolMembrane

MECANISMO DE DOENÇA

Extraoral halitosis due to methanethiol oxidase deficiency

An autosomal recessive malodor condition characterized by extraoral blood-borne halitosis resulting from the accumulation of sulfur-containing metabolites. In extraoral blood-borne halitosis, malodorant compounds are carried to the lungs, where they enter the breath. Affected individuals have a cabbage-like breath odor, high levels of methanethiol and dimethylsulfide in oral and nasal breath, and elevated urinary excretion of dimethylsulfoxide in the absence of intake of dimethylsulfide-containing food or use of sulfur-containing medication, lower-gastrointestinal problems, and known metabolic defects, such as methionine adenosyltransferase deficiency and tyrosinemia.

EXPRESSÃO TECIDUAL(Ubíquo)
Cólon transverso
628.7 TPM
Tireoide
372.8 TPM
Fígado
212.1 TPM
Estômago
189.0 TPM
Pulmão
176.0 TPM
OUTRAS DOENÇAS (2)
extraoral halitosis due to methanethiol oxidase deficiencyautosomal recessive extra-oral halitosis
HGNC:10719UniProt:Q13228
THAP11THAP domain-containing protein 11Disease-causing germline mutation(s) inRestrito
FUNÇÃO

Transcription factor, which has both transcriptional activation and repression activities (PubMed:31905202). Also modulates chromatin accessibility (PubMed:38361031). In complex with HCFC1 and ZNF143, regulates the expression of several genes, including AP2S1, ESCO2, OPHN1, RBL1, UBXN8 and ZNF32 (PubMed:26416877). May regulate the expression of genes that encode both cytoplasmic and mitochondrial ribosomal proteins (By similarity). Required for normal mitochondrial development and function. Regu

LOCALIZAÇÃO

NucleusCytoplasm

MECANISMO DE DOENÇA

Methylmalonic aciduria and homocystinuria type cblL

An autosomal recessive disorder of cobalamin metabolism clinically characterized by early-onset seizures, and profound global developmental delay with severe intellectual disability. Metabolic features are mild methylmalonic aciduria, low-normal plasma methionine, and high-normal plasma homocysteine.

EXPRESSÃO TECIDUAL(Ubíquo)
Útero
52.0 TPM
Cervix Endocervix
50.5 TPM
Cervix Ectocervix
50.0 TPM
Cólon sigmoide
47.7 TPM
Esôfago - Junção
45.0 TPM
OUTRAS DOENÇAS (2)
spinocerebellar ataxia 51methylmalonic aciduria and homocystinuria, cb1L type
HGNC:HGNC:23194UniProt:Q96EK4
CTHV-set and immunoglobulin domain-containing protein 2Disease-causing germline mutation(s) inTolerante
LOCALIZAÇÃO

Membrane

VIAS BIOLÓGICAS (3)
Degradation of cysteine and homocysteineCysteine formation from homocysteineMetabolism of ingested SeMet, Sec, MeSec into H2Se
EXPRESSÃO TECIDUAL(Ubíquo)
Fígado
44.9 TPM
Ovário
21.4 TPM
Linfócitos
19.9 TPM
Tireoide
10.6 TPM
Testículo
8.6 TPM
OUTRAS DOENÇAS (1)
cystathioninuria
HGNC:2501UniProt:Q96IQ7
ABCD4Lysosomal cobalamin transporter ABCD4Disease-causing germline mutation(s) inTolerante
FUNÇÃO

Lysosomal membrane protein that transports cobalamin (Vitamin B12) from the lysosomal lumen to the cytosol in an ATP-dependent manner (PubMed:22922874, PubMed:28572511, PubMed:31467407, PubMed:33845046). Targeted by LMBRD1 lysosomal chaperone from the endoplasmic reticulum to the lysosomal membrane (PubMed:27456980). Then forms a complex with lysosomal chaperone LMBRD1 and cytosolic MMACHC to transport cobalamin across the lysosomal membrane (PubMed:25535791)

LOCALIZAÇÃO

Endoplasmic reticulum membraneLysosome membrane

VIAS BIOLÓGICAS (2)
Transport of RCbl within the bodyUptake of dietary cobalamins into enterocytes
MECANISMO DE DOENÇA

Methylmalonic aciduria and homocystinuria type cblJ

A disorder of cobalamin metabolism characterized by decreased levels of the coenzymes adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl). Clinical features include feeding difficulties, poor growth, hypotonia, lethargy, anemia, and developmental delay.

OUTRAS DOENÇAS (1)
methylmalonic acidemia with homocystinuria, type cblJ
HGNC:68UniProt:O14678
AHCYAdenosylhomocysteinaseDisease-causing germline mutation(s) inTolerante
FUNÇÃO

Catalyzes the hydrolysis of S-adenosyl-L-homocysteine to form adenosine and homocysteine (PubMed:10933798). Binds copper ions (By similarity)

LOCALIZAÇÃO

CytoplasmMelanosomeNucleusEndoplasmic reticulum

VIAS BIOLÓGICAS (3)
MethylationSulfur amino acid metabolismMetabolism of ingested SeMet, Sec, MeSec into H2Se
MECANISMO DE DOENÇA

Hypermethioninemia with S-adenosylhomocysteine hydrolase deficiency

A metabolic disorder characterized by hypermethioninemia associated with failure to thrive, mental and motor retardation, facial dysmorphism with abnormal hair and teeth, and myocardiopathy.

OUTRAS DOENÇAS (1)
hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
HGNC:343UniProt:P23526
MOCS2Molybdopterin synthase catalytic subunitDisease-causing germline mutation(s) inTolerante
FUNÇÃO

Catalytic subunit of the molybdopterin synthase complex, a complex that catalyzes the conversion of precursor Z into molybdopterin. Acts by mediating the incorporation of 2 sulfur atoms from thiocarboxylated MOCS2A into precursor Z to generate a dithiolene group (By similarity) (PubMed:12732628, PubMed:15073332, PubMed:25709896). Together with MBIP, inhibits the activity of stress kinase EIF2AK2/PKR; this may suppress JNK activation and subsequent stress-responsive transcription, or suppress eIF

LOCALIZAÇÃO

Cytoplasm, cytosolNucleus

VIAS BIOLÓGICAS (1)
Molybdenum cofactor biosynthesis
MECANISMO DE DOENÇA

Molybdenum cofactor deficiency B

An autosomal recessive metabolic disorder characterized by neonatal onset of intractable seizures, opisthotonus, and facial dysmorphism associated with hypouricemia and elevated urinary sulfite levels. Affected individuals show severe neurologic damage and often die in early childhood.

EXPRESSÃO TECIDUAL(Ubíquo)
Brain Frontal Cortex BA9
39.9 TPM
Artéria tibial
31.9 TPM
Brain Anterior cingulate cortex BA24
31.9 TPM
Glândula adrenal
31.7 TPM
Esôfago - Muscular
31.6 TPM
OUTRAS DOENÇAS (1)
sulfite oxidase deficiency due to molybdenum cofactor deficiency type B
HGNC:7193UniProt:O96007
MTHFRMethylenetetrahydrofolate reductase (NADPH)Disease-causing germline mutation(s) inTolerante
FUNÇÃO

Catalyzes the conversion of 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate, a cosubstrate for homocysteine remethylation to methionine (PubMed:29891918). Represents a key regulatory connection between the folate and methionine cycles (Probable)

LOCALIZAÇÃO

VIAS BIOLÓGICAS (1)
Metabolism of folate and pterines
MECANISMO DE DOENÇA

Homocystinuria due to deficiency of N(5,10)-methylenetetrahydrofolate reductase activity

An autosomal recessive inborn error of folate metabolism. Clinical severity is variable, ranging from severe neurologic features to absence of symptoms. Clinical features include homocysteinuria, homocysteinemia, developmental delay, severe intellectual disability, perinatal death, psychiatric disturbances, and later-onset neurodegenerative disorders.

EXPRESSÃO TECIDUAL(Ubíquo)
Ovário
25.6 TPM
Nervo tibial
24.0 TPM
Pulmão
21.5 TPM
Baço
21.4 TPM
Tireoide
20.6 TPM
OUTRAS DOENÇAS (6)
homocystinuria due to methylene tetrahydrofolate reductase deficiencyisolated anencephalyisolated exencephalyneural tube defects, folate-sensitive
HGNC:7436UniProt:P42898
GNMTGlycine N-methyltransferaseDisease-causing germline mutation(s) inTolerante
FUNÇÃO

Catalyzes the methylation of glycine by using S-adenosylmethionine (AdoMet) to form N-methylglycine (sarcosine) with the concomitant production of S-adenosylhomocysteine (AdoHcy), a reaction regulated by the binding of 5-methyltetrahydrofolate. Plays an important role in the regulation of methyl group metabolism by regulating the ratio between S-adenosyl-L-methionine and S-adenosyl-L-homocysteine

LOCALIZAÇÃO

Cytoplasm

VIAS BIOLÓGICAS (3)
Glyoxylate metabolism and glycine degradationMetabolism of ingested SeMet, Sec, MeSec into H2SeDevelopmental Lineage of Pancreatic Acinar Cells
MECANISMO DE DOENÇA

Glycine N-methyltransferase deficiency

The only clinical abnormalities in patients with this deficiency are mild hepatomegaly and chronic elevation of serum transaminases.

EXPRESSÃO TECIDUAL(Ubíquo)
Pâncreas
270.4 TPM
Fígado
124.8 TPM
Próstata
23.9 TPM
Estômago
21.1 TPM
Pituitária
9.1 TPM
OUTRAS DOENÇAS (1)
glycine N-methyltransferase deficiency
HGNC:4415UniProt:Q14749
MOCS1Molybdenum cofactor biosynthesis protein 1Disease-causing germline mutation(s) inTolerante
FUNÇÃO

Isoform MOCS1A and isoform MOCS1B probably form a complex that catalyzes the conversion of 5'-GTP to cyclic pyranopterin monophosphate (cPMP) (PubMed:11891227, PubMed:23627491, PubMed:29368224, PubMed:31996372). MOCS1A catalyzes the cyclization of GTP to (8S)-3',8-cyclo-7,8-dihydroguanosine 5'-triphosphate and MOCS1B catalyzes the subsequent conversion of (8S)-3',8-cyclo-7,8-dihydroguanosine 5'-triphosphate to cPMP (PubMed:11891227, PubMed:23627491, PubMed:29368224, PubMed:31996372) Has very wea

LOCALIZAÇÃO

Mitochondrion matrixCytoplasm, cytosolCytoplasm

VIAS BIOLÓGICAS (1)
Molybdenum cofactor biosynthesis
MECANISMO DE DOENÇA

Molybdenum cofactor deficiency A

An autosomal recessive metabolic disorder leading to the pleiotropic loss of molybdoenzyme activities. It is clinically characterized by onset in infancy of poor feeding, intractable seizures, severe psychomotor retardation, and death in early childhood in most patients.

EXPRESSÃO TECIDUAL(Ubíquo)
Tecido adiposo
65.8 TPM
Nervo tibial
53.7 TPM
Artéria tibial
52.5 TPM
Mama
50.1 TPM
Adipose Visceral Omentum
47.9 TPM
OUTRAS DOENÇAS (1)
sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
HGNC:7190UniProt:Q9NZB8
MTRRMethionine synthase reductaseDisease-causing germline mutation(s) inTolerante
FUNÇÃO

Key enzyme in methionine and folate homeostasis responsible for the reactivation of methionine synthase (MTR/MS) activity by catalyzing the reductive methylation of MTR-bound cob(II)alamin (PubMed:17892308). Cobalamin (vitamin B12) forms a complex with MTR to serve as an intermediary in methyl transfer reactions that cycles between MTR-bound methylcob(III)alamin and MTR bound-cob(I)alamin forms, and occasional oxidative escape of the cob(I)alamin intermediate during the catalytic cycle leads to

LOCALIZAÇÃO

Cytoplasm

VIAS BIOLÓGICAS (4)
Cobalamin (Cbl) metabolismMethylationSulfur amino acid metabolismDefective MTR causes HMAG
MECANISMO DE DOENÇA

Homocystinuria-megaloblastic anemia, cblE type

An autosomal recessive inborn error of metabolism resulting from defects in the cobalamin-dependent pathway that converts homocysteine to methionine. It causes delayed psychomotor development, megaloblastic anemia, homocystinuria, and hypomethioninemia. Cells from patients with HMAE fail to incorporate methyltetrahydrofolate into methionine in whole cells, but cell extracts show normal methionine synthase activity in the presence of a reducing agent.

EXPRESSÃO TECIDUAL(Ubíquo)
Pulmão
23.0 TPM
Fibroblastos
22.4 TPM
Linfócitos
22.3 TPM
Útero
21.2 TPM
Nervo tibial
21.0 TPM
OUTRAS DOENÇAS (2)
methylcobalamin deficiency type cblEneural tube defects, folate-sensitive
HGNC:7473UniProt:Q9UBK8
MMADHCCobalamin trafficking protein CblDDisease-causing germline mutation(s) inTolerante
FUNÇÃO

Involved in cobalamin metabolism and trafficking (PubMed:18385497, PubMed:23415655, PubMed:24722857, PubMed:26364851). Plays a role in regulating the biosynthesis and the proportion of two coenzymes, methylcob(III)alamin (MeCbl) and 5'-deoxyadenosylcobalamin (AdoCbl) (PubMed:18385497, PubMed:23415655, PubMed:24722857). Promotes oxidation of cob(II)alamin bound to MMACHC (PubMed:26364851). The processing of cobalamin in the cytosol occurs in a multiprotein complex composed of at least MMACHC, MMA

LOCALIZAÇÃO

CytoplasmMitochondrion

VIAS BIOLÓGICAS (1)
Cobalamin (Cbl) metabolism
MECANISMO DE DOENÇA

Methylmalonic aciduria and homocystinuria, cblD type

An autosomal recessive disorder of cobalamin metabolism characterized by decreased levels of the coenzymes adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl). Clinical features include developmental delay, hyotonia, intellectual disability, seizures, and megaloblastic anemia. Laboratory studies show methylmalonic aciduria and homocystinuria.

EXPRESSÃO TECIDUAL(Ubíquo)
Linfócitos
157.4 TPM
Fibroblastos
145.1 TPM
Artéria tibial
139.0 TPM
Músculo esquelético
127.1 TPM
Aorta
115.0 TPM
OUTRAS DOENÇAS (5)
methylmalonic aciduria and homocystinuria type cblDhomocystinuria-megaloblastic anemia cblD typeisolated methylmalonic aciduria cblD typemethylcobalamin deficiency type cblDv1
HGNC:25221UniProt:Q9H3L0
MTRMethionine synthaseDisease-causing germline mutation(s) inTolerante
FUNÇÃO

Catalyzes the transfer of a methyl group from methylcob(III)alamin (MeCbl) to homocysteine, yielding enzyme-bound cob(I)alamin and methionine in the cytosol (PubMed:16769880, PubMed:17288554, PubMed:27771510). MeCbl is an active form of cobalamin (vitamin B12) used as a cofactor for methionine biosynthesis. Cob(I)alamin form is regenerated to MeCbl by a transfer of a methyl group from 5-methyltetrahydrofolate (PubMed:16769880, PubMed:17288554, PubMed:27771510). The processing of cobalamin in the

LOCALIZAÇÃO

Cytoplasm

VIAS BIOLÓGICAS (5)
Cobalamin (Cbl) metabolismMethylationSulfur amino acid metabolismDefective MTRR causes HMAERHOH GTPase cycle
MECANISMO DE DOENÇA

Homocystinuria-megaloblastic anemia, cblG type

An autosomal recessive inborn error of metabolism resulting from defects in the cobalamin-dependent pathway that converts homocysteine to methionine. It causes delayed psychomotor development, megaloblastic anemia, homocystinuria, and hypomethioninemia.

EXPRESSÃO TECIDUAL(Ubíquo)
Nervo tibial
38.4 TPM
Tireoide
33.3 TPM
Ovário
31.6 TPM
Fallopian Tube
28.9 TPM
Cervix Ectocervix
28.8 TPM
OUTRAS DOENÇAS (2)
methylcobalamin deficiency type cblGneural tube defects, folate-sensitive
HGNC:7468UniProt:Q99707
CBSCystathionine beta-synthaseDisease-causing germline mutation(s) inDesconhecido
FUNÇÃO

Hydro-lyase catalyzing the first step of the transsulfuration pathway, where the hydroxyl group of L-serine is displaced by L-homocysteine in a beta-replacement reaction to form L-cystathionine, the precursor of L-cysteine. This catabolic route allows the elimination of L-methionine and the toxic metabolite L-homocysteine (PubMed:20506325, PubMed:23974653, PubMed:23981774). Also involved in the production of hydrogen sulfide, a gasotransmitter with signaling and cytoprotective effects on neurons

LOCALIZAÇÃO

CytoplasmNucleus

VIAS BIOLÓGICAS (2)
Cysteine formation from homocysteineMetabolism of ingested SeMet, Sec, MeSec into H2Se
MECANISMO DE DOENÇA

Cystathionine beta-synthase deficiency

An enzymatic deficiency resulting in altered sulfur metabolism and homocystinuria. The clinical features of untreated homocystinuria due to CBS deficiency include myopia, ectopia lentis, intellectual disability, skeletal anomalies resembling Marfan syndrome, and thromboembolic events. Light skin and hair can also be present. Biochemical features include increased urinary homocystine and methionine.

OUTRAS DOENÇAS (1)
classic homocystinuria
HGNC:1550UniProt:P35520
GPHNGephyrinDisease-causing germline mutation(s) inAltamente restrito
FUNÇÃO

Microtubule-associated protein involved in membrane protein-cytoskeleton interactions. It is thought to anchor the inhibitory glycine receptor (GLYR) to subsynaptic microtubules (By similarity). Acts as a major instructive molecule at inhibitory synapses, where it also clusters GABA type A receptors (PubMed:25025157, PubMed:26613940) Also has a catalytic activity and catalyzes two steps in the biosynthesis of the molybdenum cofactor. In the first step, molybdopterin is adenylated. Subsequently,

LOCALIZAÇÃO

Postsynaptic cell membraneCell membraneCytoplasm, cytosolCytoplasm, cytoskeletonCell projection, dendritePostsynaptic density

VIAS BIOLÓGICAS (1)
Molybdenum cofactor biosynthesis
MECANISMO DE DOENÇA

Molybdenum cofactor deficiency C

A form of molybdenum cofactor deficiency, an autosomal recessive metabolic disorder leading to the pleiotropic loss of molybdoenzyme activities. It is clinically characterized by onset in infancy of poor feeding, intractable seizures, severe psychomotor retardation, and death in early childhood in most patients.

EXPRESSÃO TECIDUAL(Ubíquo)
Cérebro - Hemisfério cerebelar
45.3 TPM
Cerebelo
39.3 TPM
Linfócitos
28.2 TPM
Brain Frontal Cortex BA9
18.1 TPM
Córtex cerebral
15.4 TPM
OUTRAS DOENÇAS (2)
sulfite oxidase deficiency due to molybdenum cofactor deficiency type Chereditary hyperekplexia
HGNC:15465UniProt:Q9NQX3
MMACHCCyanocobalamin reductase / alkylcobalamin dealkylaseDisease-causing germline mutation(s) inTolerante
FUNÇÃO

Cobalamin (vitamin B12) cytosolic chaperone that catalyzes the reductive decyanation of cyanocob(III)alamin (cyanocobalamin, CNCbl) to yield cob(II)alamin and cyanide, using FAD or FMN as cofactors and NADPH as cosubstrate (PubMed:18779575, PubMed:19700356, PubMed:21697092, PubMed:25809485). Cyanocobalamin constitutes the inactive form of vitamin B12 introduced from the diet, and is converted into the active cofactors methylcobalamin (MeCbl) involved in methionine biosynthesis, and 5'-deoxyadeno

LOCALIZAÇÃO

Cytoplasm, cytosol

VIAS BIOLÓGICAS (2)
Cobalamin (Cbl) metabolismDefective MMADHC causes MMAHCD
MECANISMO DE DOENÇA

Methylmalonic aciduria and homocystinuria, cblC type

An autosomal recessive disorder of cobalamin metabolism characterized by decreased levels of the coenzymes adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl). Affected individuals may have developmental, hematologic, neurologic, metabolic, ophthalmologic, and dermatologic clinical findings. Although considered a disease of infancy or childhood, some individuals develop symptoms in adulthood.

EXPRESSÃO TECIDUAL(Ubíquo)
Fígado
9.1 TPM
Testículo
7.5 TPM
Fibroblastos
6.7 TPM
Linfócitos
5.8 TPM
Glândula adrenal
4.4 TPM
OUTRAS DOENÇAS (1)
methylmalonic aciduria and homocystinuria type cblC
HGNC:24525UniProt:Q9Y4U1
LMBRD1Lysosomal cobalamin transport escort protein LMBD1Disease-causing germline mutation(s) inTolerante
FUNÇÃO

Lysosomal membrane chaperone required to export cobalamin (vitamin B12) from the lysosome to the cytosol, allowing its conversion to cofactors (PubMed:19136951). Targets ABCD4 transporter from the endoplasmic reticulum to the lysosome (PubMed:27456980). Then forms a complex with lysosomal ABCD4 and cytoplasmic MMACHC to transport cobalamin across the lysosomal membrane (PubMed:25535791). Acts as an adapter protein which plays an important role in mediating and regulating the internalization of t

LOCALIZAÇÃO

Endoplasmic reticulum membraneLysosome membraneCell membraneCytoplasmic vesicle, clathrin-coated vesicle

VIAS BIOLÓGICAS (3)
Transport of RCbl within the bodyUptake of dietary cobalamins into enterocytesDefective ABCD4 causes MAHCJ
MECANISMO DE DOENÇA

Methylmalonic aciduria and homocystinuria, cblF type

An autosomal recessive disorder of cobalamin metabolism characterized by decreased levels of the coenzymes adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl). It is due to accumulation of free cobalamin in lysosomes, thus hindering its conversion to cofactors. Clinical features include developmental delay, stomatitis, glossitis, seizures and methylmalonic aciduria responsive to vitamin B12.

EXPRESSÃO TECIDUAL(Ubíquo)
Brain Spinal cord cervical c-1
108.4 TPM
Nervo tibial
106.7 TPM
Cérebro - Hemisfério cerebelar
91.9 TPM
Tireoide
82.0 TPM
Glândula adrenal
77.1 TPM
OUTRAS DOENÇAS (1)
methylmalonic aciduria and homocystinuria type cblF
HGNC:23038UniProt:Q9NUN5
HCFC1Host cell factor 1Disease-causing germline mutation(s) inAltamente restrito
FUNÇÃO

Transcriptional coregulator (By similarity). Serves as a scaffold protein, bridging interactions between transcription factors, including THAP11 and ZNF143, and transcriptional coregulators (PubMed:26416877). Involved in control of the cell cycle (PubMed:10629049, PubMed:10779346, PubMed:15190068, PubMed:16624878, PubMed:23629655). Also antagonizes transactivation by ZBTB17 and GABP2; represses ZBTB17 activation of the p15(INK4b) promoter and inhibits its ability to recruit p300 (PubMed:10675337

LOCALIZAÇÃO

CytoplasmNucleus

VIAS BIOLÓGICAS (4)
HATs acetylate histonesFormation of WDR5-containing histone-modifying complexesTranscriptional activation of mitochondrial biogenesisUCH proteinases
MECANISMO DE DOENÇA

Methylmalonic aciduria and homocystinuria, cblX type

An X-linked recessive metabolic disorder characterized by severely delayed psychomotor development apparent in infancy, failure to thrive, impaired intellectual development, and intractable epilepsy. Additional features may include microcephaly and choreoathetosis.

EXPRESSÃO TECIDUAL(Ubíquo)
Útero
47.3 TPM
Linfócitos
43.8 TPM
Cerebelo
38.2 TPM
Fallopian Tube
37.2 TPM
Ovário
35.7 TPM
OUTRAS DOENÇAS (2)
methylmalonic acidemia with homocystinuria, type cblXnon-syndromic X-linked intellectual disability
HGNC:4839UniProt:P51610
PRDX1Peroxiredoxin-1Disease-causing germline mutation(s) inTolerante
FUNÇÃO

Thiol-specific peroxidase that catalyzes the reduction of hydrogen peroxide and organic hydroperoxides to water and alcohols, respectively. Plays a role in cell protection against oxidative stress by detoxifying peroxides and as sensor of hydrogen peroxide-mediated signaling events. Might participate in the signaling cascades of growth factors and tumor necrosis factor-alpha by regulating the intracellular concentrations of H(2)O(2) (PubMed:9497357). Reduces an intramolecular disulfide bond in G

LOCALIZAÇÃO

CytoplasmMelanosome

VIAS BIOLÓGICAS (4)
TP53 Regulates Metabolic GenesNFE2L2 regulating anti-oxidant/detoxification enzymesDetoxification of Reactive Oxygen SpeciesDeregulated CDK5 triggers multiple neurodegenerative pathways in Alzheimer's disease models
EXPRESSÃO TECIDUAL(Ubíquo)
Esôfago - Mucosa
790.6 TPM
Tireoide
635.9 TPM
Linfócitos
598.5 TPM
Fibroblastos
487.5 TPM
Brain Spinal cord cervical c-1
472.8 TPM
OUTRAS DOENÇAS (1)
methylmalonic aciduria and homocystinuria type cblC
HGNC:HGNC:9352UniProt:Q06830
SUOXSulfite oxidase, mitochondrialDisease-causing germline mutation(s) inTolerante
FUNÇÃO

Catalyzes the oxidation of sulfite to sulfate, the terminal reaction in the oxidative degradation of sulfur-containing amino acids

LOCALIZAÇÃO

Mitochondrion intermembrane space

VIAS BIOLÓGICAS (1)
Sulfide oxidation to sulfate
MECANISMO DE DOENÇA

Sulfite oxidase deficiency, isolated

A life-threatening, autosomal recessive neurometabolic disorder characterized by severe neurological impairment. Classic ISOD manifests in the first few hours to days of life and is characterized by intractable seizures, feeding difficulties, rapidly progressive encephalopathy, microcephaly, and profound intellectual disability. Children usually die during the first few months of life. Mild ISOD manifests in infancy or early childhood and is characterized by ectopia lentis that is variably present, developmental delay and regression, movement disorder characterized by dystonia and choreoathetosis, ataxia, and rarely acute hemiplegia due to metabolic stroke.

EXPRESSÃO TECIDUAL(Ubíquo)
Glândula adrenal
29.7 TPM
Fígado
27.3 TPM
Ovário
25.5 TPM
Bladder
25.1 TPM
Tireoide
24.1 TPM
OUTRAS DOENÇAS (1)
isolated sulfite oxidase deficiency
HGNC:11460UniProt:P51687
MAT1AS-adenosylmethionine synthase isoform type-1Disease-causing germline mutation(s) inModerado
FUNÇÃO

Catalyzes the formation of S-adenosylmethionine from methionine and ATP. The reaction comprises two steps that are both catalyzed by the same enzyme: formation of S-adenosylmethionine (AdoMet) and triphosphate, and subsequent hydrolysis of the triphosphate

LOCALIZAÇÃO

VIAS BIOLÓGICAS (3)
MethylationSulfur amino acid metabolismMetabolism of ingested SeMet, Sec, MeSec into H2Se
MECANISMO DE DOENÇA

Methionine adenosyltransferase deficiency

An inborn error of metabolism resulting in isolated hypermethioninemia. Most patients have no clinical abnormalities, although some neurologic symptoms may be present in rare cases with severe loss of methionine adenosyltransferase activity.

EXPRESSÃO TECIDUAL(Tecido-específico)
Fígado
749.3 TPM
Pâncreas
17.2 TPM
Testículo
16.7 TPM
Skin Sun Exposed Lower leg
9.0 TPM
Skin Not Sun Exposed Suprapubic
6.5 TPM
OUTRAS DOENÇAS (1)
methionine adenosyltransferase deficiency
HGNC:6903UniProt:Q00266

Variantes genéticas (ClinVar)

82 variantes patogênicas registradas no ClinVar.

🧬 ADK: NM_006721.4(ADK):c.877G>C (p.Glu293Gln) ()
🧬 ADK: NM_006721.4(ADK):c.762+5G>C ()
🧬 ADK: NM_006721.4(ADK):c.647_651del (p.Ala216fs) ()
🧬 ADK: NM_006721.4(ADK):c.569_570del (p.Thr190fs) ()
🧬 ADK: NM_006721.4(ADK):c.2T>C (p.Met1Thr) ()
Ver todas no ClinVar

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Onde tratar no SUS

Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)

🇧🇷 Atendimento SUS — Doença do metabolismo dos aminoácidos sulfurados ou da transferência citosólica do grupo metila

Centros de Referência SUS

21 centros habilitados pelo SUS para Doença do metabolismo dos aminoácidos sulfurados ou da transferência citosólica do grupo metila

Centros para Doença do metabolismo dos aminoácidos sulfurados ou da transferência citosólica do grupo metila

Detalhes dos centros

Hospital Universitário Prof. Edgard Santos (HUPES)

R. Dr. Augusto Viana, s/n - Canela, Salvador - BA, 40110-060 · CNES 0003808

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do Metabolismo

Hospital de Apoio de Brasília (HAB)

AENW 3 Lote A Setor Noroeste - Plano Piloto, Brasília - DF, 70684-831 · CNES 0010456

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital Estadual Infantil e Maternidade Alzir Bernardino Alves (HIABA)

Av. Min. Salgado Filho, 918 - Soteco, Vila Velha - ES, 29106-010 · CNES 6631207

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital das Clínicas da UFG

Rua 235 QD. 68 Lote Área, Nº 285, s/nº - Setor Leste Universitário, Goiânia - GO, 74605-050 · CNES 2338424

Serviço de Referência

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Hospital das Clínicas da UFMG

Av. Prof. Alfredo Balena, 110 - Santa Efigênia, Belo Horizonte - MG, 30130-100 · CNES 2280167

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

NUPAD / Faculdade de Medicina UFMG

Av. Prof. Alfredo Balena, 189 - 5 andar - Centro, Belo Horizonte - MG, 30130-100 · CNES 2183226

Serviço de Referência

Rota
Erros Inatos do Metabolismo

Hospital Universitário João de Barros Barreto

R. dos Mundurucus, 4487 - Guamá, Belém - PA, 66073-000 · CNES 2337878

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital de Clínicas da Universidade Federal de Pernambuco

Av. Prof. Moraes Rego, 1235 - Cidade Universitária, Recife - PE, 50670-901 · CNES 2561492

Atenção Especializada

Rota
Erros Inatos do Metabolismo

Instituto de Medicina Integral Prof. Fernando Figueira (IMIP)

R. dos Coelhos, 300 - Boa Vista, Recife - PE, 50070-902 · CNES 0000647

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital de Clínicas da UFPR

R. Gen. Carneiro, 181 - Alto da Glória, Curitiba - PR, 80060-900 · CNES 2364980

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital Universitário Pedro Ernesto (HUPE-UERJ)

Blvd. 28 de Setembro, 77 - Vila Isabel, Rio de Janeiro - RJ, 20551-030 · CNES 2280221

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do Metabolismo

Instituto Nacional de Saúde da Mulher, da Criança e do Adolescente Fernandes Figueira (IFF/Fiocruz)

Av. Rui Barbosa, 716 - Flamengo, Rio de Janeiro - RJ, 22250-020 · CNES 2269988

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Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital Universitário Onofre Lopes (HUOL)

Av. Nilo Peçanha, 620 - Petrópolis, Natal - RN, 59012-300 · CNES 2408570

Atenção Especializada

Rota
Erros Inatos do Metabolismo

Hospital São Lucas da PUCRS

Av. Ipiranga, 6690 - Jardim Botânico, Porto Alegre - RS, 90610-000 · CNES 2232928

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Anomalias CongênitasErros Inatos do Metabolismo

Hospital de Clínicas de Porto Alegre (HCPA)

Rua Ramiro Barcelos, 2350 Bloco A - Av. Protásio Alves, 211 - Bloco B e C - Santa Cecília, Porto Alegre - RS, 90035-903 · CNES 2237601

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Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital Universitário da UFSC (HU-UFSC)

R. Profa. Maria Flora Pausewang - Trindade, Florianópolis - SC, 88036-800 · CNES 2560356

Serviço de Referência

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Anomalias CongênitasErros Inatos do Metabolismo

Hospital das Clínicas da FMUSP

R. Dr. Ovídio Pires de Campos, 225 - Cerqueira César, São Paulo - SP, 05403-010 · CNES 2077485

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Hospital de Clínicas da UNICAMP

R. Vital Brasil, 251 - Cidade Universitária, Campinas - SP, 13083-888 · CNES 2748223

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Hospital de Clínicas de Ribeirão Preto (HCRP-USP)

R. Ten. Catão Roxo, 3900 - Vila Monte Alegre, Ribeirão Preto - SP, 14015-010 · CNES 2082187

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Rota
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Instituto da Criança e do Adolescente (ICr-HCFMUSP)

Av. Dr. Enéas Carvalho de Aguiar, 647 - Cerqueira César, São Paulo - SP, 05403-000 · CNES 2081695

Serviço de Referência

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UNIFESP / Hospital São Paulo

R. Napoleão de Barros, 715 - Vila Clementino, São Paulo - SP, 04024-002 · CNES 2688689

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Publicações mais relevantes

Timeline de publicações
0 papers (10 anos)
#1

Polyphenols, epigenetics, and methionine metabolism: unlocking therapeutic potential.

Critical reviews in food science and nutrition2026

Polyphenols, abundant in tea, fruits, vegetables, and other plant-derived foods, have emerged as key bioactive ingredients in the field of nutritional epigenetics. These polyphenols can modulate epigenetic modifications through endogenous metabolic pathways that are highly sensitive to food signals. Among these, the methionine cycle plays a central role in maintaining the homeostasis of DNA, histone, and RNA methylation by controlling the cellular supply of S-adenosylmethionine (SAM), the universal methyl donor. Dietary polyphenols influence this cycle through multiple mechanisms, including the regulation of methionine adenosyltransferase activity, modulation of SAM biosynthesis, and promotion of S-adenosylhomocysteine clearance. These actions help restore methylation balance and contribute to the dietary prevention of metabolic, inflammatory, and age-related diseases. Furthermore, polyphenols are biotransformed in the gut microbiota to produce metabolites that further influence methionine metabolism and its associated epigenetic modifications. This review provides an overview of dietary polyphenols as functional food supplements that play a role in methionine metabolic homeostasis and epigenetic modification. This review provides new perspectives for the development of precision nutrition strategies, functional foods, and chronic disease prevention approaches. Dietary polyphenols regulate methionine enzymes, restoring SAM/SAH methylation balance.Polyphenols modulate gut microbiota, producing metabolites that enhance epigenetic health.Methionine cycle governs DNA, RNA, and histone methylation via SAM as a methyl donor.Specific polyphenols (EGCG, curcumin, and resveratrol) mitigate diseases via methylation control.

#2

Mild hyperhomocysteinemia alters spatial and recognition memories in male, but not female rats. Are inflammation, blood-brain barrier damage and Tau expression sex-specific predictors?

Behavioural brain research2026 Mar 05

Homocysteine (Hcy) is a non-proteic amino acid that participates in the remethylation cycle of methionine. Hcy levels in plasma around 16-30 µmol/L are characteristics of mild hyperhomocysteinemia (HHcy), which is a know risk factor for neurodegeneration. Given this, Hcy may serve as an early biomarker of cognitive decline. In the present study, we evaluated behavior in different tasks in adult male and female rats submitted to mild HHcy and analyzed markers of blood-brain barrier (BBB) integrity (aquaporin, occludin, and β-catenin), the expression of p- TAU217, inflammatory mediators (IL-6 and IL-10), and key cellular markers (GFAP, AIF1, and RbFOX3) in the hippocampus and cortex of these animals. Results revealed that mild HHcy induced short-term and spatial memory impairment in adult male rats, accompanied by region-specific alterations in the cortex and hippocampus. In males, we also observed that HHcy reduced occludin content, IL-10 and RbFOX3; in the hippocampus, HHcy increased the expression of IL-10 and AIF1. The female rats did not exhibit memory deficits, o the other hand, the expression of p- TAU217, and GFAP were increased in the cortex of these animals. Together our finding drive that mild HHcy may represent a valuable translational model for studying early-stage cognitive decline and tauopathy, particularly in the context of sex-specific vulnerability.

#3

Activation of USP30 Disrupts Endothelial Cell Function and Aggravates Acute Lung Injury Through Regulating the S-Adenosylmethionine Cycle.

Advanced science (Weinheim, Baden-Wurttemberg, Germany)2026 Jan

Microvascular dysfunction is a key contributor to the development of acute inflammatory diseases, characterized by heightened vascular hyperpermeability and leukocyte infiltration into interstitial tissues. Despite substantial research efforts, the precise mechanisms remain partially elucidated. Here, it is identified that USP30 is a critical regulator of lung microvascular inflammation and endothelial cell (EC) barrier integrity. Lipopolysaccharide (LPS) induces deubiquitinase activity of USP30. It is demonstrated that USP30 activation exacerbates EC dysfunction. Inhibiting USP30 leads to a 50% attenuation of inflammatory responses in ECs. In vivo, EC-specific USP30-deficient mice exhibit reduced microvascular dysfunction in models of endotoxin-induced and ischemia-reperfusion lung injury. Inhibition of USP30 preserves EC function via a mitophagy-independent mechanism involving the S-adenosylmethionine (SAM) cycle, DNA methylation, and miR-30a-5p expression. Mechanistically, USP30 depletion destabilizes and reduces methionine adenosyltransferase 2A (MAT2A) by deubiquitination, which in turn lowers SAM levels by ≈40%, and decreases global DNA methylation by roughly 35%, thereby resulting in a fourfold upregulation of miR-30a-5p. Elevated miR-30a-5p suppresses MDM2 and NFAT5 expression, contributing to the maintenance of EC function. These findings highlight that targeting USP30 may represent a potential therapeutic strategy warranting further preclinical and clinical exploration in acute lung injury.

#4

Methionine adenosyl-transferase 2A promotes placental angiogenesis by regulating VEGF-A translation via the mTORC1 signalling pathway.

The Journal of physiology2026 Mar

Abnormal placental angiogenesis contributes significantly to fetal growth restriction (FGR) and related complications. Methionine adenosyl-transferase 2A (MAT2A) can regulate the process of embryonic development; however, the role of MAT2A in placental angiogenesis during fetal development remains poorly understood. In this study, placentas from paired normal birth weight (NBW) and FGR piglets were used to quantify placental vascular density and biochemical indexes, while porcine trophoblast cells (pTrs) and porcine vascular endothelial cells (PVECs) were used to investigate the regulatory mechanism of MAT2A on placental angiogenesis. Here, we found that FGR placentas exhibited reduced vascular density and increased glycogen levels. Moreover, FGR placentas showed reduced S-adenosylmethionine (SAM) levels and downregulated protein expression of MAT2A and CD31. Placental SAM levels were positively correlated with vascular density, while MAT2A expression was positively correlated with CD31 expression. Further study showed that MAT2A knockdown disrupted the metabolism of methionine, glycolysis, the tricarboxylic acid cycle and oxidative phosphorylation, and hindered protein synthesis, thereby impairing cell proliferation and migration in pTrs and/or PVECs, and inhibited angiogenesis in a co-culture system. In contrast, SAM supplementation promoted phosphorylation of ribosomal protein S6 kinase 1 (S6K1), downstream of the mammalian target of rapamycin complex 1 signalling pathway, and upregulated vascular endothelial growth factor-A protein expression, thereby increasing endothelial cell tube formation. In conclusion, our study demonstrates the potential of MAT2A in interventional therapy for placental development of FGR. KEY POINTS: Placental vascular density is correlated with decreased S-adenosylmethionine (SAM) levels caused by downregulated adenosyl-transferase 2A (MAT2A) expression. MAT2A regulates the placental mTORC1 signalling pathway and protein synthesis. MAT2A knockdown disrupts methionine metabolism, glycolysis, the tricarboxylic acid cycle and oxidative phosphorylation. MAT2A regulates the proliferation and migration capacity of placental trophoblast and endothelial cells. MAT2A regulates placental angiogenesis via the SAM-mTORC1-S6K1-VEGF-A signalling pathway.

#5

MTHFR allele and one-carbon metabolic profile predict severity of COVID-19.

Proceedings of the National Academy of Sciences of the United States of America2025 Dec 23

While the public health burden of SARS-CoV-2 infection has lessened due to natural and vaccine-acquired immunity, emergence of less virulent variants, and antiviral medications, COVID-19 continues to take a significant toll. There are thousands of new hospitalizations and hundreds of deaths per week in the United States, many of whom develop long COVID. Early identification of individuals at high risk of severe COVID-19 is key for monitoring and supporting respiratory status and improving outcomes. Therefore, precision tools for early detection of patients at high risk of severe disease can reduce morbidity and mortality. Here, we report an untargeted, longitudinal plasma metabolomics study of COVID-19 patients. One-carbon metabolism, a pathway previously shown as critical for viral propagation and disease progression, and a potential target for COVID-19 treatment, scored strongly as differentially abundant in patients with severe COVID-19. Targeted metabolite profiling revealed that one arm of the one-carbon metabolism pathway, the methionine cycle, is a major driver of the metabolic profile associated with disease severity. Further, genomic data from the profiled patients revealed a genetic contributor to methionine metabolism and identified the C677T allele of the MTHFR gene as a preexisting contributor to disease trajectory-patients that show aberrant one-carbon metabolite levels and that are homozygous for the MTHFR C677T, have higher incidence of severe COVID. Our results raise the possibility that MTHFR variant status may inform precision COVID-19 treatment strategies.

Publicações recentes

Ver todas no PubMed

📚 EuropePMCmostrando 190

2026

Polyphenols, epigenetics, and methionine metabolism: unlocking therapeutic potential.

Critical reviews in food science and nutrition
2026

Methionine adenosyl-transferase 2A promotes placental angiogenesis by regulating VEGF-A translation via the mTORC1 signalling pathway.

The Journal of physiology
2025

Dietary methionine deprivation enhances renal resilience against ischemia-reperfusion injury in mice through modulation of glucose oxidation.

Communications biology
2025

MTHFR allele and one-carbon metabolic profile predict severity of COVID-19.

Proceedings of the National Academy of Sciences of the United States of America
2025

An Alternative Metabolic Pathway of Glucose Oxidation Induced by Mitochondrial Complex I Inhibition: Serinogenesis and Folate Cycling.

International journal of molecular sciences
2025

Differential effects of synthetic estrogen on serum homocysteine levels before and after menopause.

PloS one
2026

Mild hyperhomocysteinemia alters spatial and recognition memories in male, but not female rats. Are inflammation, blood-brain barrier damage and Tau expression sex-specific predictors?

Behavioural brain research
2025

Lycium barbarum L. polyphenols improve HFD-induced NAFLD through liver and colon metabolism and intestinal microbiota:potential role of methionine cycle.

Phytomedicine : international journal of phytotherapy and phytopharmacology
2026

Activation of USP30 Disrupts Endothelial Cell Function and Aggravates Acute Lung Injury Through Regulating the S-Adenosylmethionine Cycle.

Advanced science (Weinheim, Baden-Wurttemberg, Germany)
2025

Methionine restriction inhibits the TGF-β1/CCN2/NF-κB pathway to attenuate astrocyte inflammation and cognitive impairment in the APP/PS1 mice.

International immunopharmacology
2025

Gut microbiota-derived metabolite trimethylamine N-oxide alters the host epigenome through inhibition of S-adenosylhomocysteine hydrolase.

The Journal of biological chemistry
2025

Cystathionine γ-lyase downregulation promotes liver injury and necroptosis through reprogramming of methionine cycle.

Redox report : communications in free radical research
2025

An insulin-sensitive Drosophila insulin-like receptor mutant remodels methionine metabolism to extend lifespan.

PLoS genetics
2025

Norcantharidin inhibits the METTL16/MAT2A pathway to induce apoptosis and suppress tumor progression in ovarian cancer.

Archives of biochemistry and biophysics
2025

Dietary sulfur amino acid restriction improves metabolic health by reducing fat mass.

Life metabolism
2025

Methionine cycle in C. elegans serotonergic neurons regulates diet-dependent behaviour and longevity through neuron-gut signaling.

Nature communications
2025

The involvement of the synaptic vesicle cycle in homocysteine induced neurotoxicity in vitro and in vivo.

Scientific reports
2025

Effects of alcohol on the transcriptome, methylome and metabolome of in vitro gastrulating human embryonic cells.

Disease models & mechanisms
2025

The Amelioration of Methionine Restriction on the Celiac Toxic Effects of p31-43 Gliadin Peptide Is Disrupted by S-Adenosyl-Methionine.

Journal of food science
2025

Folic Acid Promotes Peripheral Nerve Injury Repair via Regulating DNM3-AKT Pathway Through Mediating Methionine Cycle Metabolism.

Neuromolecular medicine
2025

Associations of maternal serum folate, vitamin B12 and their imbalance with gestational diabetes mellitus: The mediation effects of the methionine cycle related metabolites.

Clinical nutrition (Edinburgh, Scotland)
2025

Metabolism Meets Translation: Dietary and Metabolic Influences on tRNA Modifications and Codon Biased Translation.

Wiley interdisciplinary reviews. RNA
2025

[The role of genetic polymorphisms in folate metabolism genes in the manifestation of migraine in children].

Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova
2025

The Inhibitory Effects of NCT503 and Exogenous Serine on High-Selenium Induced Insulin Resistance in Mice.

Nutrients
2025

Methionine Sulfoximine as a Tool for Studying Temporal Lobe Epilepsy: Initiator, Developer, Attenuator.

Neurochemical research
2025

MAT2A inhibitor AG-270/S095033 in patients with advanced malignancies: a phase I trial.

Nature communications
2025

Metabolomic profiling of saliva from cystic fibrosis patients.

Scientific reports
2025

RNA sequencing combined with whole-exome sequencing revealed familial homocystinemia due to MTHFR deficiency and its complex splicing events.

Gene
2024

Higher Incidence of Common Polymorphisms in the Genes of Folate and Methionine Cycles in Children With Orofacial Clefs and Congenital Heart Defects Compared to their Unaffected Siblings.

Birth defects research
2024

Metabolites and metabolism in vascular calcification: links between adenosine signaling and the methionine cycle.

American journal of physiology. Heart and circulatory physiology
2025

The Protective Effects of Methionine on Nickel-Induced Oxidative Stress via NF-κB Pathway in the Kidneys of Mice.

Biological trace element research
2024

S-Adenosylmethionine Inhibits the Proliferation of Retinoblastoma Cell Y79, Induces Apoptosis and Cell Cycle Arrest of Y79 Cells by Inhibiting the Wnt2/β-Catenin Pathway.

Archivum immunologiae et therapiae experimentalis
2024

Congenital Heart Disease and Genetic Changes in Folate/Methionine Cycles.

Genes
2024

Regulation of Betaine Homocysteine Methyltransferase by Liver Receptor Homolog-1 in the Methionine Cycle.

Molecular and cellular biology
2024

Dietary sulfur amino acid restriction in humans with overweight and obesity: Evidence of an altered plasma and urine sulfurome, and a novel metabolic signature that correlates with loss of fat mass and adipose tissue gene expression.

Redox biology
2024

Association of Increased Homocysteine Levels with Impaired Folate Metabolism and Vitamin B Deficiency in Early-Onset Multiple Sclerosis.

Biochemistry. Biokhimiia
2024

Unveiling the methionine cycle: a key metabolic signature and NR4A2 as a methionine-responsive oncogene in esophageal squamous cell carcinoma.

Cell death and differentiation
2024

The luxS deletion reduces the spoilage ability of Shewanella putrefaciens: An analysis focusing on quorum sensing and activated methyl cycle.

Food microbiology
2024

Moderate Elevation of Homocysteine Induces Endothelial Dysfunction through Adaptive UPR Activation and Metabolic Rewiring.

Cells
2024

Exogenous methionine contributes to reversing the resistance of Streptococcus suis to macrolides.

Microbiology spectrum
2023

The Implication of a Polymorphism in the Methylenetetrahydrofolate Reductase Gene in Homocysteine Metabolism and Related Civilisation Diseases.

International journal of molecular sciences
2024

Vitamin B12 produced by gut bacteria modulates cholinergic signalling.

Nature cell biology
2023

N-Acetylglutamate and N-acetylmethionine compromise mitochondrial bioenergetics homeostasis and glutamate oxidation in brain of developing rats: Potential implications for the pathogenesis of ACY1 deficiency.

Biochemical and biophysical research communications
2023

Folate and retinal vascular diseases.

BMC ophthalmology
2023

A transgenic mice model of retinopathy of cblG-type inherited disorder of one-carbon metabolism highlights epigenome-wide alterations related to cone photoreceptor cells development and retinal metabolism.

Clinical epigenetics
2023

Selenomethionine alleviates environmental heat stress induced hepatic lipid accumulation and glycogen infiltration of broilers via maintaining mitochondrial and endoplasmic reticulum homeostasis.

Redox biology
2023

Differential regulation of hippocampal transcriptome by circulating estrogen.

Functional & integrative genomics
2023

Endothelial autophagy is not required for liver regeneration after partial hepatectomy in mice with fatty liver.

Liver international : official journal of the International Association for the Study of the Liver
2024

Aberrant MNX1 expression associated with t(7;12)(q36;p13) pediatric acute myeloid leukemia induces the disease through altering histone methylation.

Haematologica
2023

Methionine restriction constrains lipoylation and activates mitochondria for nitrogenic synthesis of amino acids.

Nature communications
2023

Potential mechanism for hyperhomocysteinemia in Greyhound dogs.

Journal of veterinary internal medicine
2023

Folate-Methionine Cycle Disruptions in ASD Patients and Possible Interventions: A Systematic Review.

Genes
2023

The Lysophospholipase PNPLA7 Controls Hepatic Choline and Methionine Metabolism.

Biomolecules
2023

Mapping the metabolic reprogramming induced by sodium-glucose cotransporter 2 inhibition.

JCI insight
2023

Hepatic oleate regulates one-carbon metabolism during high carbohydrate feeding.

Biochemical and biophysical research communications
2023

Methyl Donors, Epigenetic Alterations, and Brain Health: Understanding the Connection.

International journal of molecular sciences
2023

Integration of transcriptomics and metabonomics revealed the protective effects of hemp seed oil against methionine-choline-deficient diet-induced non-alcoholic steatohepatitis in mice.

Food & function
2023

Hepatic phosphatidylcholine catabolism driven by PNPLA7 and PNPLA8 supplies endogenous choline to replenish the methionine cycle with methyl groups.

Cell reports
2022

Characterization of Choline Nutriture among Adults and Children with Phenylketonuria.

Nutrients
2023

JAZF1: A Metabolic Regulator of Sensitivity to a Polyamine-Targeted Therapy.

Molecular cancer research : MCR
2022

Early-life vitamin B12 orchestrates lipid peroxidation to ensure reproductive success via SBP-1/SREBP1 in Caenorhabditis elegans.

Cell reports
2022

Glycogen Storage Disease Phenotypes Accompanying the Perturbation of the Methionine Cycle in NDRG3-Deficient Mouse Livers.

Cells
2022

Epigenetic Modifications and Their Potential Contribution to Traumatic Brain Injury Pathobiology and Outcome.

Journal of neurotrauma
2022

Methionine cycle in nonalcoholic fatty liver disease and its potential applications.

Biochemical pharmacology
2022

L-methionine enhances neuroinflammation and impairs neurogenesis: Implication for Alzheimer's disease.

Journal of neuroimmunology
2022

S-Adenosylmethionine: From the Discovery of Its Inhibition of Tumorigenesis to Its Use as a Therapeutic Agent.

Cells
2022

Disrupted liver oxidative metabolism in glycine N-methyltransferase-deficient mice is mitigated by dietary methionine restriction.

Molecular metabolism
2021

Methylenetetrahydrofolate (MTHFR), the One-Carbon Cycle, and Cardiovascular Risks.

Nutrients
2022

Causes and consequences of impaired methionine synthase activity in acquired and inherited disorders of vitamin B12 metabolism.

Critical reviews in biochemistry and molecular biology
2021

Vitamin B12 impacts amyloid beta-induced proteotoxicity by regulating the methionine/S-adenosylmethionine cycle.

Cell reports
2021

The glycine betaine role in neurodegenerative, cardiovascular, hepatic, and renal diseases: Insights into disease and dysfunction networks.

Life sciences
2021

Discrimination of Methionine Sulfoxide and Sulfone by Human Neutrophil Elastase.

Molecules (Basel, Switzerland)
2021

The Light-Inducible Genes Per2, Cry1a, and Cry2a Regulate Oxidative Status in Zebrafish.

Biological & pharmaceutical bulletin
2021

Regulation of the one carbon folate cycle as a shared metabolic signature of longevity.

Nature communications
2021

The Resistance Responses of Potato Plants to Potato Virus Y Are Associated with an Increased Cellular Methionine Content and an Altered SAM:SAH Methylation Index.

Viruses
2021

eVITTA: a web-based visualization and inference toolbox for transcriptome analysis.

Nucleic acids research
2021

Increasing mTORC1 Pathway Activity or Methionine Supplementation during Pregnancy Reverses the Negative Effect of Maternal Malnutrition on the Developing Kidney.

Journal of the American Society of Nephrology : JASN
2021

A study to enhance the oral bioavailability of s-adenosyl-l-methionine (SAMe): SLN and SLN nanocomposite particles.

Chemistry and physics of lipids
2021

Selenomethionine protects hematopoietic stem/progenitor cells against cobalt nanoparticles by stimulating antioxidant actions and DNA repair functions.

Aging
2021

Serine metabolism antagonizes antiviral innate immunity by preventing ATP6V0d2-mediated YAP lysosomal degradation.

Cell metabolism
2021

Duodenal-jejunal bypass maintains hepatic S-adenosylmethionine/S-homocysteine ratio in diet-induced obese rats.

Surgery for obesity and related diseases : official journal of the American Society for Bariatric Surgery
2021

Combination Methionine-methylation-axis Blockade: A Novel Approach to Target the Methionine Addiction of Cancer.

Cancer genomics & proteomics
2021

Therapeutic potential of puerarin against methionine-choline-deficient diet-induced non-alcoholic steatohepatitis determined by combination of 1H NMR spectroscopy-based metabonomics and 16S rRNA gene sequencing.

Journal of pharmaceutical and biomedical analysis
2021

A distinct metabolic response characterizes sensitivity to EZH2 inhibition in multiple myeloma.

Cell death & disease
2021

Derangement of hepatic polyamine, folate, and methionine cycle metabolism in cystathionine beta-synthase-deficient homocystinuria in the presence and absence of treatment: Possible implications for pathogenesis.

Molecular genetics and metabolism
2021

Identification of small molecule allosteric modulators of 5,10-methylenetetrahydrofolate reductase (MTHFR) by targeting its unique regulatory domain.

Biochimie
2021

Reduction of fatty liver in rats by nicotinamide via the regeneration of the methionine cycle and the inhibition of aldehyde oxidase.

The Journal of toxicological sciences
2021

Simultaneous determination of methionine cycle metabolites, urea cycle intermediates and polyamines in serum, urine and intestinal tissue by using UHPLC-MS/MS.

Talanta
2020

Alterations in One-Carbon Metabolism in Celiac Disease.

Nutrients
2020

Methionine metabolism in chronic liver diseases: an update on molecular mechanism and therapeutic implication.

Signal transduction and targeted therapy
2020

[Remethylation disorders: about two cases].

Annales de biologie clinique
2020

When to measure plasma homocysteine and how to place it in context: The homocystinurias.

Journal of mother and child
2021

Role of the methionine cycle in the temperature-sensitive responses of potato plants to potato virus Y.

Molecular plant pathology
2021

The Effects of Graded Levels of Calorie Restriction: XVI. Metabolomic Changes in the Cerebellum Indicate Activation of Hypothalamocerebellar Connections Driven by Hunger Responses.

The journals of gerontology. Series A, Biological sciences and medical sciences
2020

Arachidyl amido cholanoic acid improves liver glucose and lipid homeostasis in nonalcoholic steatohepatitis via AMPK and mTOR regulation.

World journal of gastroenterology
2020

High-dose folic acid supplementation results in significant accumulation of unmetabolized homocysteine, leading to severe oxidative stress in Caenorhabditis elegans.

Redox biology
2021

Metabolism as a central regulator of β-cell chromatin state.

The FEBS journal
2020

S-Adenosylmethionine Rescues Cognitive Deficits in the rTg4510 Animal Model by Stabilizing Protein Phosphatase 2A and Reducing Phosphorylated Tau.

Journal of Alzheimer's disease : JAD
2020

Sulfur Metabolism Under Stress.

Antioxidants & redox signaling
2020

Accelerated transsulfuration metabolically defines a discrete subclass of amyotrophic lateral sclerosis patients.

Neurobiology of disease
2021

Hyperhomocysteinemia: an instigating factor for periodontal disease.

Canadian journal of physiology and pharmacology
2020

Homocysteine: A novel prognostic biomarker in liver transplantation for alpha-fetoprotein- negative hepatocellular carcinoma.

Cancer biomarkers : section A of Disease markers
2020

S-Adenosylmethionine Alleviates Amyloid-β-Induced Neural Injury by Enhancing Trans-Sulfuration Pathway Activity in Astrocytes.

Journal of Alzheimer's disease : JAD
2020

Disruption of hepatic one-carbon metabolism impairs mitochondrial function and enhances macrophage activity in methionine-choline-deficient mice.

The Journal of nutritional biochemistry
2020

The Effects of Maternal and Postnatal Dietary Methyl Nutrients on Epigenetic Changes that Lead to Non-Communicable Diseases in Adulthood.

International journal of molecular sciences
2020

The impact of B vitamins on the functioning of methylation cycle in the liver and the kidneys of hyper- and hypothyroid rats.

Polski merkuriusz lekarski : organ Polskiego Towarzystwa Lekarskiego
2020

Targeting Hepatic Glutaminase 1 Ameliorates Non-alcoholic Steatohepatitis by Restoring Very-Low-Density Lipoprotein Triglyceride Assembly.

Cell metabolism
2020

The effect of different dietary ratios of arginine, methionine, and lysine on the performance, carcass traits, and immune status of turkeys.

Poultry science
2020

Alterations in methionine to homocysteine ratio in individuals with first-episode psychosis and those with at-risk mental state.

Clinical biochemistry
2019

Dysregulated Choline, Methionine, and Aromatic Amino Acid Metabolism in Patients with Wilson Disease: Exploratory Metabolomic Profiling and Implications for Hepatic and Neurologic Phenotypes.

International journal of molecular sciences
2019

Autism spectrum disorder (ASD) - biomarkers of oxidative stress and methylation and transsulfuration cycle.

Psychiatria polska
2020

Methyl Donor Deficiency Blocks Colorectal Cancer Development by Affecting Key Metabolic Pathways.

Cancer prevention research (Philadelphia, Pa.)
2020

Metabolic impact of partial hepatectomy in the non-alcoholic steatohepatitis animal model of methionine-choline deficient diet.

Journal of pharmaceutical and biomedical analysis
2020

Homocysteine-methionine cycle is a metabolic sensor system controlling methylation-regulated pathological signaling.

Redox biology
2020

Blockade of the trans-sulfuration pathway in acute pancreatitis due to nitration of cystathionine β-synthase.

Redox biology
2020

Genes and genetics in hyperhomocysteinemia and the "1-carbon metabolism": implications for retinal structure and eye functions.

Canadian journal of physiology and pharmacology
2019

Circulating Plasma Metabolomic Profiles Differentiate Rodent Models of Pulmonary Hypertension and Idiopathic Pulmonary Arterial Hypertension Patients.

American journal of hypertension
2019

Alterations of Methionine Metabolism as Potential Targets for the Prevention and Therapy of Hepatocellular Carcinoma.

Medicina (Kaunas, Lithuania)
2019

Methionine restriction delays senescence and suppresses the senescence-associated secretory phenotype in the kidney through endogenous hydrogen sulfide.

Cell cycle (Georgetown, Tex.)
2019

Serum levels of single-carbon metabolism vitamins and homocysteine in head-and-neck squamous cell carcinoma: Preliminary report.

Annals of African medicine
2019

Implications of the mitochondrial interactome of mammalian thioredoxin 2 for normal cellular function and disease.

Free radical biology & medicine
2019

Metabolic footprint and intestinal microbial changes in response to dietary proteins in a pig model.

The Journal of nutritional biochemistry
2019

Antigen receptor control of methionine metabolism in T cells.

eLife
2019

Chemokine (C-C motif) ligand 2 gene ablation protects low-density lipoprotein and paraoxonase-1 double deficient mice from liver injury, oxidative stress and inflammation.

Biochimica et biophysica acta. Molecular basis of disease
2019

Both Val158Met Polymorphism of Catechol-O-Methyltransferase Gene and Menstrual Cycle Affect Prepulse Inhibition but Not Attentional Modulation of Prepulse Inhibition in Younger-Adult Females.

Neuroscience
2019

Clinical Studies of Methionine-Restricted Diets for Cancer Patients.

Methods in molecular biology (Clifton, N.J.)
2019

Betaine modulates oxidative stress, inflammation, apoptosis, autophagy, and Akt/mTOR signaling in methionine-choline deficiency-induced fatty liver disease.

European journal of pharmacology
2018

Tunicamycin-Induced ER Stress is Accompanied with Oxidative Stress via Abrogation of Sulfur Amino Acids Metabolism in the Liver.

International journal of molecular sciences
2018

MICAL2 Mediates p53 Ubiquitin Degradation through Oxidating p53 Methionine 40 and 160 and Promotes Colorectal Cancer Malignance.

Theranostics
2019

Dietary methionine restriction reduces hepatic steatosis and oxidative stress in high-fat-fed mice by promoting H2S production.

Food & function
2019

Resistance against Ralstonia solanacearum in tomato depends on the methionine cycle and the γ-aminobutyric acid metabolic pathway.

The Plant journal : for cell and molecular biology
2019

Targeting MTHFR for the treatment of migraines.

Expert opinion on therapeutic targets
2019

One-Carbon Metabolism: Linking Nutritional Biochemistry to Epigenetic Programming of Long-Term Development.

Annual review of animal biosciences
2019

Homocysteine and age-associated disorders.

Ageing research reviews
2018

1,25-Dihydroxyvitamin D3 increases the methionine cycle, CD4+ T cell DNA methylation and Helios+Foxp3+ T regulatory cells to reverse autoimmune neurodegenerative disease.

Journal of neuroimmunology
2018

Adjunctive S-adenosylmethionine (SAMe) in treating non-remittent major depressive disorder: An 8-week double-blind, randomized, controlled trial<sup/>.

European neuropsychopharmacology : the journal of the European College of Neuropsychopharmacology
2018

Dietary methionine restriction regulated energy and protein homeostasis by improving thyroid function in high fat diet mice.

Food &amp; function
2018

Analytic Approaches for the Treatment of Hyperhomocysteinemia and Its Impact on Vascular Disease.

Cardiovascular drugs and therapy
2018

Metabolomic studies identify changes in transmethylation and polyamine metabolism in a brain-specific mouse model of tuberous sclerosis complex.

Human molecular genetics
2018

Targeting altered cancer methionine metabolism with recombinant methioninase (rMETase) overcomes partial gemcitabine-resistance and regresses a patient-derived orthotopic xenograft (PDOX) nude mouse model of pancreatic cancer.

Cell cycle (Georgetown, Tex.)
2018

Increasing the availability of threonine, isoleucine, valine, and leucine relative to lysine while maintaining an ideal ratio of lysine:methionine alters mammary cellular metabolites, mammalian target of rapamycin signaling, and gene transcription.

Journal of dairy science
2018

AhR and SHP regulate phosphatidylcholine and S-adenosylmethionine levels in the one-carbon cycle.

Nature communications
2019

Methionine in Proteins: It's Not Just for Protein Initiation Anymore.

Neurochemical research
2019

Hepatic accumulation of S-adenosylmethionine in hamsters with non-alcoholic fatty liver disease associated with metabolic syndrome under selenium and vitamin E deficiency.

Clinical science (London, England : 1979)
2018

Glutathione reductase mediates drug resistance in glioblastoma cells by regulating redox homeostasis.

Journal of neurochemistry
2018

Plasma biomarker discovery for early chronic kidney disease diagnosis based on chemometric approaches using LC-QTOF targeted metabolomics data.

Journal of pharmaceutical and biomedical analysis
2017

SULPHUR-CONTAINING AMINO ACIDS METABOLISM IN EXPERIMENTAL HYPER- AND HYPOTHYROIDISM IN RATS.

Georgian medical news
2017

Homocysteine inhibits angiogenesis through cytoskeleton remodeling.

Bioscience reports
2017

Growth arrest and DNA damage-inducible 45α protects against nonalcoholic steatohepatitis induced by methionine- and choline-deficient diet.

Biochimica et biophysica acta. Molecular basis of disease
2018

Prenatal one-carbon metabolism dysregulation programs schizophrenia-like deficits.

Molecular psychiatry
2017

Correlations Between Methionine Cycle Metabolism, COMT Genotype, and Polyneuropathy in L-Dopa Treated Parkinson's Disease: A Preliminary Cross-Sectional Study.

Journal of Parkinson's disease
2017

One-carbon metabolism, cognitive impairment and CSF measures of Alzheimer pathology: homocysteine and beyond.

Alzheimer's research &amp; therapy
2017

Intrinsically Disordered Proteins as Important Players during Desiccation Stress of Soybean Radicles.

Journal of proteome research
2017

An integrative analysis of tissue-specific transcriptomic and metabolomic responses to short-term dietary methionine restriction in mice.

PloS one
2017

Folic Acid Supplementation Delays Atherosclerotic Lesion Development by Modulating MCP1 and VEGF DNA Methylation Levels In Vivo and In Vitro.

International journal of molecular sciences
2017

Metabolic perturbation of epigenome by inhibiting S-adenosylhomocysteine hydrolase elicits senescence through DNA damage response in hepatoma cells.

Tumour biology : the journal of the International Society for Oncodevelopmental Biology and Medicine
2017

S-Adenosylmethionine Attenuates Oxidative Stress and Neuroinflammation Induced by Amyloid-β Through Modulation of Glutathione Metabolism.

Journal of Alzheimer's disease : JAD
2018

Brain-derived neurotrophic factor Val66Met genotype and ovarian steroids interactively modulate working memory-related hippocampal function in women: a multimodal neuroimaging study.

Molecular psychiatry
2017

D-penicillamine combined with inhibitors of hydroperoxide metabolism enhances lung and breast cancer cell responses to radiation and carboplatin via H2O2-mediated oxidative stress.

Free radical biology &amp; medicine
2016

Polymorphisms in MTHFR, MS and CBS genes and premature acute myocardial infarction in a Pakistani population.

Pakistan journal of pharmaceutical sciences
2017

[The interrelationship of indices of hemocysteine and genetic polymorphisms conditioning disorders of folates metabolism in healthy population].

Klinicheskaia laboratornaia diagnostika
2017

Mathematical modeling of the methionine cycle and transsulfuration pathway in individuals with autism spectrum disorder.

Journal of theoretical biology
2017

iTRAQ analysis of the tobacco leaf proteome reveals that RNA-directed DNA methylation (RdDM) has important roles in defense against geminivirus-betasatellite infection.

Journal of proteomics
2016

Epigenetics in type 1 diabetes: TNFa gene promoter methylation status in Chilean patients with type 1 diabetes mellitus.

The British journal of nutrition
2017

An Aminotransferase Is Responsible for the Deamination of the N-Terminal Leucine and Required for Formation of Oxazolone Ring A in Methanobactin of Methylosinus trichosporium OB3b.

Applied and environmental microbiology
2017

1-Carbon Cycle Metabolites Methylate Their Way to Fatty Liver.

Trends in endocrinology and metabolism: TEM
2017

High-throughput and simultaneous quantitative analysis of homocysteine-methionine cycle metabolites and co-factors in blood plasma and cerebrospinal fluid by isotope dilution LC-MS/MS.

Analytical and bioanalytical chemistry
2016

Convallatoxin-Induced Reduction of Methionine Import Effectively Inhibits Human Cytomegalovirus Infection and Replication.

Journal of virology
2016

Metabolomic signatures of drug response phenotypes for ketamine and esketamine in subjects with refractory major depressive disorder: new mechanistic insights for rapid acting antidepressants.

Translational psychiatry
2017

Targeting metabolism in cellular senescence, a role for intervention.

Molecular and cellular endocrinology
2016

High-throughput method for the quantitation of metabolites and co-factors from homocysteine-methionine cycle for nutritional status assessment.

Bioanalysis
2016

A Robust and Efficient Production and Purification Procedure of Recombinant Alzheimers Disease Methionine-Modified Amyloid-β Peptides.

PloS one
2016

Additive reductions in zebrafish PRPS1 activity result in a spectrum of deficiencies modeling several human PRPS1-associated diseases.

Scientific reports
2016

Components of One-carbon Metabolism Other than Folate and Colorectal Cancer Risk.

Epidemiology (Cambridge, Mass.)
2016

L-DOPA treatment in MPTP-mouse model of Parkinson's disease potentiates homocysteine accumulation in substantia nigra.

Neuroscience letters
2016

Pseudomonas syringae type III effector HopAF1 suppresses plant immunity by targeting methionine recycling to block ethylene induction.

Proceedings of the National Academy of Sciences of the United States of America
2016

The dynamics of methionine supply and demand during early development.

Applied physiology, nutrition, and metabolism = Physiologie appliquee, nutrition et metabolisme
2016

Neuregulin 1 Promotes Glutathione-Dependent Neuronal Cobalamin Metabolism by Stimulating Cysteine Uptake.

Oxidative medicine and cellular longevity
2016

S-adenosylmethionine Administration Attenuates Low Brain-Derived Neurotrophic Factor Expression Induced by Chronic Cerebrovascular Hypoperfusion or Beta Amyloid Treatment.

Neuroscience bulletin
2016

Methionine restriction beyond life-span extension.

Annals of the New York Academy of Sciences
2016

Quantitation of S-Adenosylmethionine and S-Adenosylhomocysteine in Plasma Using Liquid Chromatography-Electrospray Tandem Mass Spectrometry.

Methods in molecular biology (Clifton, N.J.)
2015

Creatine biosynthesis and transport in health and disease.

Biochimie
2015

Top Down Proteomics Reveals Mature Proteoforms Expressed in Subcellular Fractions of the Echinococcus granulosus Preadult Stage.

Journal of proteome research
2015

Dysregulated Hepatic Methionine Metabolism Drives Homocysteine Elevation in Diet-Induced Nonalcoholic Fatty Liver Disease.

PloS one
2016

Protective effect of ursodeoxycholic acid, resveratrol, and N-acetylcysteine on nonalcoholic fatty liver disease in rats.

Pharmaceutical biology
2015

Methylation reactions, the redox balance and atherothrombosis: the search for a link with hydrogen sulfide.

Seminars in thrombosis and hemostasis
2015

Nonalcoholic fatty liver disease: update on pathogenesis, diagnosis, treatment and the role of S-adenosylmethionine.

Experimental biology and medicine (Maywood, N.J.)
2015

Reversed phase and cation exchange liquid chromatography with spectrophotometric and elemental/molecular mass spectrometric detection for S-adenosyl methionine/S-adenosyl homocysteine ratios as methylation index in cell cultures of ovarian cancer.

Journal of chromatography. A
2015

Association of folate metabolism gene polymorphisms and pulmonary embolism: A case-control study of West-Siberian population.

Thrombosis research
2014

Folate and homocysteine metabolisms and their roles in the biochemical basis of neuropsychiatry.

Turkish journal of medical sciences

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Referências e fontes

Bases de dados externas citadas neste artigo

Publicações científicas

Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.

  1. Polyphenols, epigenetics, and methionine metabolism: unlocking therapeutic potential.
    Critical reviews in food science and nutrition· 2026· PMID 41622927mais citado
  2. Mild hyperhomocysteinemia alters spatial and recognition memories in male, but not female rats. Are inflammation, blood-brain barrier damage and Tau expression sex-specific predictors?
    Behavioural brain research· 2026· PMID 41338531mais citado
  3. Activation of USP30 Disrupts Endothelial Cell Function and Aggravates Acute Lung Injury Through Regulating the S-Adenosylmethionine Cycle.
    Advanced science (Weinheim, Baden-Wurttemberg, Germany)· 2026· PMID 41104980mais citado
  4. Methionine adenosyl-transferase 2A promotes placental angiogenesis by regulating VEGF-A translation via the mTORC1 signalling pathway.
    The Journal of physiology· 2026· PMID 41579147mais citado
  5. MTHFR allele and one-carbon metabolic profile predict severity of COVID-19.
    Proceedings of the National Academy of Sciences of the United States of America· 2025· PMID 41410771mais citado
  6. Dietary methionine deprivation enhances renal resilience against ischemia-reperfusion injury in mice through modulation of glucose oxidation.
    Commun Biol· 2025· PMID 41476132recente
  7. An Alternative Metabolic Pathway of Glucose Oxidation Induced by Mitochondrial Complex I Inhibition: Serinogenesis and Folate Cycling.
    Int J Mol Sci· 2025· PMID 41373508recente
  8. Effects of alcohol on the transcriptome, methylome and metabolome of in vitro gastrulating human embryonic cells.
    Dis Model Mech· 2025· PMID 40401629recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:79173(Orphanet)
  2. MONDO:0019222(MONDO)
  3. GARD:18953(GARD (NIH))
  4. Variantes catalogadas(ClinVar)
  5. Busca completa no PubMed(PubMed)
  6. Q19001322(Wikidata)

Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.

Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar

Doença do metabolismo dos aminoácidos sulfurados ou da transferência citosólica do grupo metila
Compêndio · Raras BR

Doença do metabolismo dos aminoácidos sulfurados ou da transferência citosólica do grupo metila

ORPHA:79173 · MONDO:0019222
CID-10
E72.1 · Distúrbios do metabolismo dos aminoácidos que contêm enxofre
CID-11
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C0268613
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