Raras
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Doença do metabolismo da cobalamina
ORPHA:79171CID-11 · 5C63.0DOENÇA RARA

Doença metabólica hereditária que afeta a absorção intestinal da cobalamina (vitamina B12), o transporte no sangue, a captação pelas células periféricas ou o metabolismo celular.

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Introdução

O que você precisa saber de cara

📋

Doença metabólica hereditária que afeta a absorção intestinal da cobalamina (vitamina B12), o transporte no sangue, a captação pelas células periféricas ou o metabolismo celular.

🏥
SUS: Cobertura mínimaScore: 20%
Centros em: PA, PR, SC, RS, ES +8
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Sinais e sintomas

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

Partes do corpo afetadas

🧠
Neurológico
36 sintomas
🩸
Sangue
17 sintomas
👁️
Olhos
15 sintomas
❤️
Coração
14 sintomas
🦴
Ossos e articulações
14 sintomas
🫘
Rins
12 sintomas

+ 109 sintomas em outras categorias

Características mais comuns

Atrofia da medula espinhal
Nível diminuído de anticorpos circulantes
Linfopenia
Anormalidade da estabilidade cromossômica
Ambliopia
Insuficiência respiratória
262sintomas
Sem dados (262)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 262 características clínicas mais associadas, ordenadas por frequência.

Atrofia da medula espinhalAtrophy of the spinal cord
Nível diminuído de anticorpos circulantesDecreased circulating antibody level
LinfopeniaLymphopenia
Anormalidade da estabilidade cromossômicaAbnormality of chromosome stability
AmbliopiaAmblyopia

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa11
Últimos 10 anos136publicações
Pico202018 papers
Linha do tempo
20202015Hoje · 2026🧪 2010Primeiro ensaio clínico📈 2020Ano 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

16 genes identificados com associação a esta condição.

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
TCN2Transcobalamin-2Disease-causing germline mutation(s) inTolerante
FUNÇÃO

Primary vitamin B12-binding and transport protein. Delivers cobalamin to cells

LOCALIZAÇÃO

Secreted

VIAS BIOLÓGICAS (1)
Transport of RCbl within the body
MECANISMO DE DOENÇA

Transcobalamin II deficiency

An autosomal recessive disorder manifesting in early infancy and characterized by failure to thrive, megaloblastic anemia, pancytopenia, and agammaglobulinemia. Additional features include methylmalonic aciduria, recurrent infections, vomiting and diarrhea. TCN2D may be accompanied by neurological complications, including psychomotor and mental developmental delay, if untreated.

EXPRESSÃO TECIDUAL(Ubíquo)
Rim - Córtex
73.1 TPM
Adipose Visceral Omentum
64.7 TPM
Baço
63.8 TPM
Pulmão
61.2 TPM
Mama
53.8 TPM
OUTRAS DOENÇAS (1)
transcobalamin II deficiency
HGNC:11653UniProt:P20062
CD320CD320 antigenDisease-causing germline mutation(s) inTolerante
FUNÇÃO

Receptor for transcobalamin saturated with cobalamin (TCbl) (PubMed:18779389). Plays an important role in cobalamin uptake (PubMed:18779389, PubMed:20524213). Plasma membrane protein that is expressed on follicular dendritic cells (FDC) and mediates interaction with germinal center B cells (PubMed:10727470). Functions as costimulator to promote B cell responses to antigenic stimuli; promotes B cell differentiation and proliferation (PubMed:10727470, PubMed:11418631). Germinal center-B (GC-B) cel

LOCALIZAÇÃO

Cell membrane

VIAS BIOLÓGICAS (1)
Transport of RCbl within the body
MECANISMO DE DOENÇA

Methylmalonic aciduria, transient, due to transcobalamin receptor defect

An autosomal recessive metabolic condition characterized by moderate methymalonicaciduria, and normal plasma vitamin B12 levels. Serum homocysteine may be increased in some affected individuals. Most cases are clinically asymptomatic.

OUTRAS DOENÇAS (1)
methylmalonic acidemia due to transcobalamin receptor defect
HGNC:16692UniProt:Q9NPF0
CUBNCubilinDisease-causing germline mutation(s) inTolerante
FUNÇÃO

Endocytic receptor which plays a role in lipoprotein, vitamin and iron metabolism by facilitating their uptake (PubMed:10371504, PubMed:11606717, PubMed:11717447, PubMed:14576052, PubMed:9572993). Acts together with LRP2 to mediate endocytosis of high-density lipoproteins, GC, hemoglobin, ALB, TF and SCGB1A1. Acts together with AMN to mediate endocytosis of the CBLIF-cobalamin complex (PubMed:14576052, PubMed:9572993). Binds to ALB, MB, Kappa and lambda-light chains, TF, hemoglobin, GC, SCGB1A1,

LOCALIZAÇÃO

Apical cell membraneCell membraneMembrane, coated pitEndosomeLysosome membrane

VIAS BIOLÓGICAS (1)
Vitamin D (calciferol) metabolism
MECANISMO DE DOENÇA

Imerslund-Grasbeck syndrome 1

A form of Imerslund-Grasbeck syndrome, a rare autosomal recessive disorder characterized by vitamin B12 deficiency commonly resulting in megaloblastic anemia, which is responsive to parenteral vitamin B12 therapy and appears in infancy or early childhood. Clinical manifestations include failure to thrive, infections and neurological damage. Mild proteinuria, with no signs of kidney disease, is present in about half of the patients.

EXPRESSÃO TECIDUAL(Tecido-específico)
Rim - Córtex
17.1 TPM
Nervo tibial
10.9 TPM
Tireoide
8.8 TPM
Ovário
5.3 TPM
Testículo
5.1 TPM
OUTRAS DOENÇAS (3)
proteinuria, chronic benignImerslund-Grasbeck syndrome type 1Imerslund-Grasbeck syndrome
HGNC:2548UniProt:O60494
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
CBLIFCobalamin binding intrinsic factorDisease-causing germline mutation(s) inTolerante
FUNÇÃO

Promotes absorption of the essential vitamin cobalamin (Cbl) in the ileum. After interaction with CUBN, the CBLIF-cobalamin complex is internalized via receptor-mediated endocytosis

LOCALIZAÇÃO

Secreted

VIAS BIOLÓGICAS (1)
Uptake of dietary cobalamins into enterocytes
MECANISMO DE DOENÇA

Hereditary intrinsic factor deficiency

Autosomal recessive disorder characterized by megaloblastic anemia.

OUTRAS DOENÇAS (1)
hereditary intrinsic factor deficiency
HGNC:4268UniProt:P27352
AMNProtein amnionlessDisease-causing germline mutation(s) inTolerante
FUNÇÃO

Membrane-bound component of the endocytic receptor formed by AMN and CUBN (PubMed:14576052, PubMed:29402915, PubMed:30523278). Required for normal CUBN glycosylation and trafficking to the cell surface (PubMed:14576052, PubMed:29402915). The complex formed by AMN and CUBN is required for efficient absorption of vitamin B12 (PubMed:12590260, PubMed:14576052, PubMed:26040326). Required for normal CUBN-mediated protein transport in the kidney (Probable)

LOCALIZAÇÃO

Apical cell membraneCell membraneEndosome membraneMembrane, coated pitSecreted

VIAS BIOLÓGICAS (3)
Uptake of dietary cobalamins into enterocytesHDL clearanceDefective CUBN causes MGA1
MECANISMO DE DOENÇA

Imerslund-Grasbeck syndrome 2

A form of Imerslund-Grasbeck syndrome, a rare autosomal recessive disorder characterized by vitamin B12 deficiency commonly resulting in megaloblastic anemia, which is responsive to parenteral vitamin B12 therapy and appears in infancy or early childhood. Clinical manifestations include failure to thrive, infections and neurological damage. Mild proteinuria, with no signs of kidney disease, is present in about half of the patients.

OUTRAS DOENÇAS (2)
Imerslund-Grasbeck syndrome type 2Imerslund-Grasbeck syndrome
HGNC:14604UniProt:Q9BXJ7
MMABCorrinoid adenosyltransferase MMABDisease-causing germline mutation(s) inTolerante
FUNÇÃO

Converts cob(I)alamin to adenosylcobalamin (adenosylcob(III)alamin), a coenzyme for methylmalonyl-CoA mutase, therefore participates in the final step of the vitamin B12 conversion (PubMed:12514191). Generates adenosylcobalamin (AdoCbl) and directly delivers the cofactor to MUT in a transfer that is stimulated by ATP-binding to MMAB and gated by MMAA (Probable)

LOCALIZAÇÃO

Mitochondrion

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

Methylmalonic aciduria, cblB type

An autosomal recessive disorder of methylmalonate and cobalamin metabolism due to defective synthesis of adenosylcobalamin.

EXPRESSÃO TECIDUAL(Ubíquo)
Glândula adrenal
23.8 TPM
Fígado
21.8 TPM
Tireoide
18.6 TPM
Rim - Medula
18.1 TPM
Ovário
16.9 TPM
OUTRAS DOENÇAS (1)
methylmalonic aciduria, cblB type
HGNC:19331UniProt:Q96EY8
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
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
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
MMAAPutative L-type amino acid transporter 1-like protein IMAADisease-causing germline mutation(s) inTolerante
LOCALIZAÇÃO

Membrane

VIAS BIOLÓGICAS (3)
Cobalamin (Cbl) metabolismPropionyl-CoA catabolismDefective MUT causes MMAM
EXPRESSÃO TECIDUAL(Ubíquo)
Fígado
5.2 TPM
Linfócitos
4.6 TPM
Testículo
3.8 TPM
Fibroblastos
3.6 TPM
Cérebro - Hemisfério cerebelar
3.5 TPM
OUTRAS DOENÇAS (1)
methylmalonic aciduria, cblA type
HGNC:18871UniProt:Q9GIP4
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

Variantes genéticas (ClinVar)

125 variantes patogênicas registradas no ClinVar.

🧬 PRDX1: GRCh37/hg19 1p34.1-22.2(chr1:44475302-89585894)x3 ()
🧬 PRDX1: NC_000001.10:g.(?_45973008)_(45977106_?)del ()
🧬 PRDX1: Single allele ()
🧬 PRDX1: GRCh37/hg19 1p34.1-32.3(chr1:45303358-52157856) ()
🧬 PRDX1: GRCh37/hg19 1p35.1-33(chr1:33285582-47891811) ()
Ver todas no ClinVar

Diagnóstico

Os sinais que médicos procuram e os exames que confirmam

Carregando...

Tratamento e manejo

Remédios, cuidados de apoio e o que precisa acompanhar

Pipeline de tratamentos
Pipeline regulatório — de medicamentos já aprovados a drogas em pesquisa exploratória.
·Pré-clínico3
Medicamentos catalogadosEnsaios clínicos· 0 medicamentos · 3 ensaios
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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 da cobalamina

Centros de Referência SUS

21 centros habilitados pelo SUS para Doença do metabolismo da cobalamina

Centros para Doença do metabolismo da cobalamina

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

Rota
Anomalias CongênitasErros Inatos do Metabolismo

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

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Erros Inatos do Metabolismo

Instituto de Medicina Integral Prof. Fernando Figueira (IMIP)

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Hospital de Clínicas da UFPR

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Hospital Universitário Pedro Ernesto (HUPE-UERJ)

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

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Hospital Universitário Onofre Lopes (HUOL)

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Hospital São Lucas da PUCRS

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

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Hospital de Clínicas de Porto Alegre (HCPA)

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Instituto da Criança e do Adolescente (ICr-HCFMUSP)

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UNIFESP / Hospital São Paulo

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Publicações mais relevantes

Timeline de publicações
0 papers (10 anos)
#1

Stepwise phage resistance and collateral phage susceptibility in Klebsiella pneumoniae.

Emerging microbes & infections2026 Mar 19

Carbapenem-resistant Klebsiella pneumoniae (CRKP) is a difficult-to-treat pathogen. Phages recovered by a "stepwise" approach may constitute a cocktail able to prolong retardation of bacterial regrowth. We stepwise recovered three lytic phages (namely P04, P40, and P49) from different families against ST11-KL64 CRKP and created a cocktail that restrained CRKP growth for 15 h. Phage P04 recognized bacterial capsular polysaccharide (CPS). P04/P40-resistant mutants lost the large fragments containing CPS gene due to homologous recombination between two insertion sequences. Through gene cloning and complementation experiments, CPS and lipopolysaccharide (LPS) quantification, and untargeted lipid metabolism assays, deletion of the ugd/wbgU genes alters lipid A modification and outer membrane environment. This change affects the accessibility of an unidentified membrane protein or lipid A itself, which serves as the receptor for P40. P49 recognized bacterial transmembrane protein involved in vitamin B12 transportation. Synergistic antibacterial activity was observed because the three phages recognize different receptors. Notably, P49 also lysed Salmonella enterica, Escherichia coli, Enterobacter ludwigii, and Kluyvera tianfuensis, suggesting new receptors would be exposed when the synthesis of CPS was inhibited, thereby allowing efficient attack by phages originally targeting other species (the 'close-one-door-but-open-another' phenomenon). The conserved structure of BtuB provides a molecular basis for the rare cross-genus activity of P49. Insertion sequences provide a generalized anti-phage defense in encapsulated bacteria. Our findings provide critical insights into the versatile mechanisms underpinning bacteria-phages interactions. Specifically, the collateral susceptibility to phages targeting other bacterial species may provide a novel and highly promising approach for creating clinically viable phage cocktails.

#2

Signal-Level Determinants of Cognitive Decline With PPIs versus H2RAs: Transportome (CBLIF/TCN2) and CHRNA7 Nodes.

Molecular nutrition & food research2026 Feb

Emerging evidence suggests that chronic use of gastric acid-suppressing medications may contribute to neurocognitive decline, yet the underlying mechanisms remain poorly defined. Proton pump inhibitors like omeprazole and histamine-2 receptor antagonists such as ranitidine are widely prescribed for gastrointestinal disorders, but their long-term impact on brain function. Forty-eight male Wistar rats were assigned to six groups receiving either control diet, B12 alone, omeprazole, ranitidine, or co-treatment with B12 for 90 days. Behavioral and cognitive assessments revealed early deficits in the drug-only-treated groups (omeprazole and ranitidine). Notably, B12 ameliorated omeprazole-induced impairments but failed to reverse ranitidine-associated deficits, suggesting divergent neurotoxic pathways. Biochemical profiling included serum B12, homocysteine, cortisol, glucose, insulin, liver enzymes, and neurotransmitter. To complement these in vivo findings, an in silico approach was employed to explore molecular interactions of omeprazole and ranitidine with proteins critical for vitamin B12 transport (CBLIF and TCN2) and cholinergic neurotransmission (CHRNA7). Together, these in vivo and in silico results suggest that omeprazole-induced cognitive decline may involve B12 depletion and other mechanisms, whereas ranitidine likely acts via alternative pathways. This study provides novel mechanistic insights into differential cognitive risks associated with chronic acid-suppressing therapy, with implications for long-term management in populations vulnerable to neurodegeneration.

#3

Modelling CubAm function and regulation in proximal tubular cells using iPSC-derived kidney organoids.

Experimental cell research2025 Dec 01

Idiopathic nephrotic syndrome (INS) associated to focal segmental glomeruloesclerosis or minimal change disease is characterized by the presence of heavy levels of proteinuria. Filtrated proteins are normally actively reabsorbed in the proximal tubule by the megalin-cubilin-amnionless complex, located at the apical membrane of the proximal tubule epithelial cells. Megalin has a transmembrane domain but cubilin needs to interact with amnionless to reach the cell membrane in a complex known as CubAm. While megalin has a wide variety of ligands only a few proteins are exclusively transported by binding CubAm; one of those is Apolipoprotein A-I (ApoA-I). The reabsorption of Apolipoprotein A-I (ApoA-I) seems to be impaired in INS but this aspect of INS is difficult to study due to the low expression of CubAm in cultured proximal tubular cells as well as in other in vitro tubular modelling approaches. Here we show that RPTEC/TERT-1 cells cultured in monolayer barely express cubilin and amnionless proteins. In contrast, proximal tubular cells of induced Pluripotent Stem Cells (iPSCs)-derived kidney organoids showed robust expression of CubAm. In addition, protein overload induced an increase of the number of proximal tubular cells expressing cubilin that is reversed when the stimuli is removed. Finally, exogenously added ApoA-I targets cubilin suggesting that the CubAm complex is functional in our iPSCs-derived kidney organoids. Thus, kidney organoids provide a valuable system for modelling specific aspects of INS, including the impact of protein overload on tubular cells and the CubAm-mediated endocytosis of ApoA-I, which is thought to be impaired in these conditions.

#4

Intramuscular Vitamin B12 Treatment in Transcobalamin II Deficiency: Case Series Clinical Outcomes.

The application of clinical genetics2025

Transcobalamin II (TC II) deficiency is a rare autosomal recessive disorder that typically manifests in early infancy. Symptoms include failure to thrive, vomiting, weakness, and pancytopenia. If left undiagnosed and untreated, it can be life-threatening. TC II is crucial for transporting cobalamin (vitamin B12), which plays a vital role in homocysteine and methylmalonic acid metabolism. It serves as a cofactor in neurotransmitter synthesis and protein methylation processes. In this study, we reviewed the clinical presentation, treatment approaches, and long-term outcomes of four patients with confirmed TC II deficiency. All subjects were born to consanguineous parents and exhibited symptoms between birth and four months of age. All patients presented with hematological abnormalities, elevated methylmalonic acid (MMA), and increased total homocysteine (tHcy) levels. Whole Exome Sequencing (WES) confirmed TC II deficiency in all cases, revealing diverse mutation spectra, primarily frameshift mutations (leu320Valfs*51, and IIe330Hisfs*9). No clear genotype-phenotype correlations were observed. The majority of patients were treated with intramuscular hydroxocobalamin (OH-Cbl), resulting in clinical and biochemical improvements. This study underscores the importance of early detection and appropriate management of TC II deficiency to prevent permanent morbidity and potentially fatal outcomes. Regular monitoring of clinical and neurological status, as well as MMA and tHcy levels, is essential to ensure adequate therapy. Intramuscular treatment is the preferred route to prevent neurological deficits and optimal markers normalization.

#5

Analysis of the Association Between the SLC19A1 Genetic Variant (rs1051266) and Autism Spectrum Disorders, Cerebral Folate Deficiency, and Clinical and Laboratory Parameters.

Journal of molecular neuroscience : MN2025 Mar 29

Autism spectrum disorders (ASD) are characterized by clinical heterogeneity and may be associated with cerebral folate deficiency (CFD). Among the causes, folate receptor alpha autoantibodies (FRAA) and variants of the SLC19A1 gene are commonly highlighted. The aim of this study was to analyze the rs1051266 variant of the SLC19A1 gene in patients with ASD and CFD and to determine its relationship with clinical and laboratory parameters. The study included 227 children with ASD, 156 of whom had CFD. FRAA detection, genotyping of the rs1051266 variant, and folate metabolism marker measurement (homocysteine, vitamins B9, B12, B6) were performed. FRAA binding was detected in 39.2% of ASD patients, blocking FRAA in 3.5%, and a specific soluble folate receptor in 13.2%. The 80GA genotype was the most common (46.3%), and homocysteine levels tended to be moderately elevated (upper quartile - 7.0). Significant correlations were found between homocysteine levels and vitamins B9, B12, and B6 (p < 0.05) and between verbal impairments and vitamin B12 (p = 0.043). In ASD and CFD patients, the 80GG genotype was more frequent (p = 0.03) and vitamin B12 levels were elevated (p = 0.021). In the ASD group, correlations were found between the 80AA genotype and demyelination (p = 0.020) and between homocysteine levels and demyelination (p = 0.042). In conclusion, the rs1051266 variant of the SLC19A1 gene modifies the clinical course of ASD. Patients with ASD and CFD exhibited high variability in folate metabolism markers. These findings underline the need for further research on folate transport genetics for personalized prevention and treatment strategies for ASD and CFD.

Publicações recentes

Ver todas no PubMed

📚 EuropePMCmostrando 134

2026

Stepwise phage resistance and collateral phage susceptibility in Klebsiella pneumoniae.

Emerging microbes &amp; infections
2026

Signal-Level Determinants of Cognitive Decline With PPIs versus H2RAs: Transportome (CBLIF/TCN2) and CHRNA7 Nodes.

Molecular nutrition &amp; food research
2025

Airway microbial and metabolic features associated with ICS therapy in COPD.

Frontiers in pharmacology
2025

Patient-reported characteristics of pernicious anaemia: a first step to initiate James Lind Alliance Priority Setting Partnership driven research.

BMC primary care
2025

Modelling CubAm function and regulation in proximal tubular cells using iPSC-derived kidney organoids.

Experimental cell research
2025

Exploring neuropsychiatric manifestations of vitamin B complex deficiencies.

Frontiers in psychiatry
2025

Fatty acids and albumin are transported by distinct mechanisms in the proximal tubule.

American journal of physiology. Renal physiology
2025

Engineering biology and chemical approaches to the construction of vitamin B12 analogues and antivitamins B12 as probes and therapeutic agents.

Advances in microbial physiology
2025

Dapagliflozin combined with methylcobalamin in the treatment of type 2 diabetes mellitus with peripheral neuropathy: a systematic review and meta-analysis.

Frontiers in endocrinology
2025

Intramuscular Vitamin B12 Treatment in Transcobalamin II Deficiency: Case Series Clinical Outcomes.

The application of clinical genetics
2025

Choline in Pediatric Nutrition: Assessing Formula, Fortifiers and Supplements Across Age Groups and Clinical Indications.

Nutrients
2025

Longitudinal host-microbiome dynamics of metatranscription identify hallmarks of progression in periodontitis.

Microbiome
2025

Tubular proteinuria due to hereditary endocytic receptor disorder of the proximal tubule: Dent disease and chronic benign proteinuria.

Pediatric nephrology (Berlin, Germany)
2025

Analysis of the Association Between the SLC19A1 Genetic Variant (rs1051266) and Autism Spectrum Disorders, Cerebral Folate Deficiency, and Clinical and Laboratory Parameters.

Journal of molecular neuroscience : MN
2025

Designing biocompatible xanthan gum hydrogels for pH-responsive vitamin B12 delivery.

International journal of biological macromolecules
2025

Chronic Enteropathy and Vitamins in Dogs.

Animals : an open access journal from MDPI
2025

Methylcobalamin protects against liver failure via engaging gasdermin E.

Nature communications
2025

Dissecting the role of vitamin B12 metabolism in craniofacial development through analysis of clinical phenotypes and model organism discoveries.

Differentiation; research in biological diversity
2024

Vitamin B12 Metabolism: A Network of Multi-Protein Mediated Processes.

International journal of molecular sciences
2024

Vitamin B12 Status and Supplementation in Plant-Based Diets.

Food and nutrition bulletin
2024

Transcobalamin deficiency - a rare genetic defect in transportation of cobalamin; case report.

Annals of hematology
2024

Transcobalamin receptor antibodies in autoimmune vitamin B12 central deficiency.

Science translational medicine
2024

Vitamin B12 uptake across the mycobacterial outer membrane is influenced by membrane permeability in Mycobacterium marinum.

Microbiology spectrum
2024

SNP-based and haplotype-based genome-wide association on drug dependence in Han Chinese.

BMC genomics
2024

Expression of the cobalamin transporters cubam and MRP1 in the canine ileum-Upregulation in chronic inflammatory enteropathy.

PloS one
2024

Transmembrane helix 6 of ABCD4 is indispensable for cobalamin transport.

Journal of inherited metabolic disease
2024

Maternal folic acid and vitamin B12 supplementation during medium to late gestation promotes fetal development via improving placental antioxidant capacity, angiogenesis and amino acid transport.

Journal of the science of food and agriculture
2023

Metabolomic biomarkers of habitual B vitamin intakes unveil novel differentially methylated positions in the human epigenome.

Clinical epigenetics
2023

Bacteroides ovatus accelerates metformin-induced vitamin B12 deficiency in type 2 diabetes patients by accumulating cobalamin.

NPJ biofilms and microbiomes
2022

Mechanisms Involved in the Neurotoxicity and Abuse Liability of Nitrous Oxide: A Narrative Review.

International journal of molecular sciences
2022

Versatile enzymology and heterogeneous phenotypes in cobalamin complementation type C disease.

iScience
2022

Transferrin-functionalized liposomes loaded with vitamin VB12 for Alzheimer's disease therapy.

International journal of pharmaceutics
2022

Substrate Specificity and the Direction of Transport in the ABC Transporters ABCD1-3 and ABCD4.

Chemical &amp; pharmaceutical bulletin
2022

Ischemic Stroke and Dietary Vitamin B12 Deficiency in Old-Aged Females: Impaired Motor Function, Increased Ischemic Damage Size, and Changed Metabolite Profiles in Brain and Cecum Tissue.

Nutrients
2022

Clinical, phenotypic and genetic landscape of case reports with genetically proven inherited disorders of vitamin B12 metabolism: A meta-analysis.

Cell reports. Medicine
2022

A female case of 5,10-methenyltetrahydrofolate synthetase deficiency with novel neuro-imaging abnormalities.

Brain &amp; development
2022

Investigation on a MMACHC mutant from cblC disease: The c.394C>T variant.

Biochimica et biophysica acta. Proteins and proteomics
2022

Vitamin B12 as a cholinergic system modulator and blood brain barrier integrity restorer in Alzheimer's disease.

European journal of pharmaceutical sciences : official journal of the European Federation for Pharmaceutical Sciences
2022

Cubilin, the intrinsic factor-vitamin B12 receptor.

Vitamins and hormones
2022

Vitamin B12 absorption and malabsorption.

Vitamins and hormones
2022

Renal Expression of CLC-5 and Megalin/Cubilin in Dent-1 Disease With Nonsense Mutations of CLCN5 Gene.

Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society
2021

Knock-Out of Retrovirus Receptor Gene Tva in the Chicken Confers Resistance to Avian Leukosis Virus Subgroups A and K and Affects Cobalamin (Vitamin B12)-Dependent Level of Methylmalonic Acid.

Viruses
2022

Cobalamin F deficiency in a girl with severe skin hyperpigmentation and a homozygous LMBRD1 variant.

Clinical and experimental dermatology
2021

The Cerebrospinal Fluid Concentration of Methyltetrahydrofolate and Serum Folate in Children with Developmental Delay, Regression, and/or Refractory Epilepsy.

Neurology India
2022

Cubilin-, megalin-, and Dab2-dependent transcription revealed by CRISPR/Cas9 knockout in kidney proximal tubule cells.

American journal of physiology. Renal physiology
2022

Analysis of Six tonB Gene Homologs in Bacteroides fragilis Revealed That tonB3 is Essential for Survival in Experimental Intestinal Colonization and Intra-Abdominal Infection.

Infection and immunity
2021

Prenatal diagnosis of combined methylmalonic acidemia and homocystinuria cobalamin C type using clinical exome sequencing and targeted gene analysis.

Molecular genetics &amp; genomic medicine
2022

Subclinical maculopathy and retinopathy in transcobalamin deficiency: a 10-year follow-up.

Documenta ophthalmologica. Advances in ophthalmology
2021

Structural intermediates observed only in intact Escherichia coli indicate a mechanism for TonB-dependent transport.

eLife
2021

Vitamin B12 status in health and disease: a critical review. Diagnosis of deficiency and insufficiency - clinical and laboratory pitfalls.

Critical reviews in clinical laboratory sciences
2021

Cobalamin J disease detected on newborn screening: Novel variant and normal neurodevelopmental course.

American journal of medical genetics. Part A
2021

Long-term outcome of a patient with Transcobalamin deficiency caused by the homozygous c.1115_1116delCA mutation in TCN2 gene: a case report.

Italian journal of pediatrics
2021

Limited effects of long-term daily cranberry consumption on the gut microbiome in a placebo-controlled study of women with recurrent urinary tract infections.

BMC microbiology
2021

De Novo Cobalamin Biosynthesis, Transport, and Assimilation and Cobalamin-Mediated Regulation of Methionine Biosynthesis in Mycobacterium smegmatis.

Journal of bacteriology
2021

Clinical and molecular findings in 37 Turkish patients with isolated methylmalonic acidemia.

Turkish journal of medical sciences
2021

Mechanism of how carbamylation reduces albumin binding to FcRn contributing to increased vascular clearance.

American journal of physiology. Renal physiology
2020

[Remethylation disorders: about two cases].

Annales de biologie clinique
2020

Clinical Features and Molecular Genetics of Autosomal Recessive Ataxia in the Turkish Population.

Journal of pediatric neurosciences
2021

Novel CUBN Mutation in a Young Child With Megaloblastic Anemia.

Journal of pediatric hematology/oncology
2020

Lessons Learned from Inherited Metabolic Disorders of Sulfur-Containing Amino Acids Metabolism.

The Journal of nutrition
2020

Metabolic Serendipities of Expanded Newborn Screening.

Genes
2021

Downregulation of megalin, cubilin, ClC-5 and podocin in Fabry nephropathy: potential implications in the decreased effectiveness of enzyme replacement therapy.

Journal of nephrology
2020

Cu-catalyzed click conjugation of cobalamin to a BODIPY-based fluorophore: A versatile tool to explore the cellular biology of vitamin B12.

Journal of inorganic biochemistry
2021

Delineating the clinical spectrum of isolated methylmalonic acidurias: cblA and mut.

Journal of inherited metabolic disease
2020

Long Term Culture of Human Kidney Proximal Tubule Epithelial Cells Maintains Lineage Functions and Serves as an Ex vivo Model for Coronavirus Associated Kidney Injury.

Virologica Sinica
2020

The Genetic Epidemiology of Pediatric Pulmonary Arterial Hypertension.

The Journal of pediatrics
2020

3'-UTR Polymorphisms of Vitamin B-Related Genes Are Associated with Osteoporosis and Osteoporotic Vertebral Compression Fractures (OVCFs) in Postmenopausal Women.

Genes
2020

The human B12 trafficking protein CblC processes nitrocobalamin.

The Journal of biological chemistry
2021

An altered fecal microbial profiling in rosacea patients compared to matched controls.

Journal of the Formosan Medical Association = Taiwan yi zhi
2020

Immunodeficiency and inborn disorders of vitamin B12 and folate metabolism.

Current opinion in clinical nutrition and metabolic care
2020

Efficacy of Intravenous Hydroxocobalamin for Treatment of Sodium Methanethiolate Exposure in a Swine Model (Sus scrofa) of Severe Methanethiol Toxicity.

Journal of medical toxicology : official journal of the American College of Medical Toxicology
2020

An unusually high plasma concentration of homocysteine resulting from a combination of so-called "secondary" etiologies.

Clinical biochemistry
2020

Dysregulated Gut Homeostasis Observed Prior to the Accumulation of the Brain Amyloid-β in Tg2576 Mice.

International journal of molecular sciences
2020

Assessment of cellular cobalamin metabolism in Gaucher disease.

BMC medical genetics
2019

Vitamin B2 and Folate Concentrations are Associated with ARA, EPA and DHA Fatty Acids in Red Blood Cells of Brazilian Children and Adolescents.

Nutrients
2020

Mucin adsorbed by E. coli can affect neutrophil activation in vitro.

FEBS open bio
2020

Association between CUBN gene variants, type 2 diabetes and vitamin D concentrations in an elderly Greek population.

The Journal of steroid biochemistry and molecular biology
2020

Flexible Cobamide Metabolism in Clostridioides (Clostridium) difficile 630 Δerm.

Journal of bacteriology
2019

Terminal complement complex C5b-9 reduced megalin and cubilin-mediated tubule proteins uptake in a mouse model of trichloroethylene hypersensitivity syndrome.

Toxicology letters
2019

Lysosome-Rich Enterocytes Mediate Protein Absorption in the Vertebrate Gut.

Developmental cell
2019

Treatable cause of hereditary spastic paraplegia: eight cases of combined homocysteinaemia with methylmalonic aciduria.

Journal of neurology
2019

Genetic polymorphisms of the cobalamin transport system are associated with idiopathic recurrent implantation failure.

Journal of assisted reproduction and genetics
2019

Loss of abcd4 in zebrafish leads to vitamin B12-deficiency anemia.

Biochemical and biophysical research communications
2019

Allosteric Regulation of Oligomerization by a B12 Trafficking G-Protein Is Corrupted in Methylmalonic Aciduria.

Cell chemical biology
2019

Double-sidedness of "laughing gas" on the N-methyl-d-aspartate receptor: A case report of acute psychosis associated with nitrous oxide-induced hyperhomocysteinemia.

Schizophrenia research
2019

Patients with cobalamin G or J defect missed by the current newborn screening program: diagnosis and novel mutations.

Journal of human genetics
2019

Role of pregnancy and obesity on vitamin D status, transport, and metabolism in baboons.

American journal of physiology. Endocrinology and metabolism
2018

Renal miR-148b is associated with megalin down-regulation in IgA nephropathy.

Bioscience reports
2018

A Novel Two-Nucleotide Deletion of MMADHC Gene Causing cblD Disease in a Chinese Family.

Chinese medical journal
2018

Orchestrated regulation of iron trafficking proteins in the kidney during iron overload facilitates systemic iron retention.

PloS one
2020

Cubilin, the Intrinsic Factor-Vitamin B12 Receptor in Development and Disease.

Current medicinal chemistry
2018

Intestinal microbiota profiling and predicted metabolic dysregulation in psoriasis patients.

Experimental dermatology
2018

Human gut Bacteroides capture vitamin B12 via cell surface-exposed lipoproteins.

eLife
2018

Mice lacking the transcobalamin-vitamin B12 receptor, CD320, suffer from anemia and reproductive deficits when fed vitamin B12-deficient diet.

Human molecular genetics
2018

Improving the diagnosis of cobalamin and related defects by genomic analysis, plus functional and structural assessment of novel variants.

Orphanet journal of rare diseases
2018

Inherited disorders of cobalamin metabolism disrupt nucleocytoplasmic transport of mRNA through impaired methylation/phosphorylation of ELAVL1/HuR.

Nucleic acids research
2018

Mild clinical features of isolated methylmalonic acidemia associated with a novel variant in the MMAA gene in two Chinese siblings.

BMC medical genetics
2019

Neutropenia and Increased Mean Corpuscular Volume (MCV) With Abnormal Neurologic Findings: A Case of Cobalamin D Deficiency.

Journal of pediatric hematology/oncology
2018

Amnionless-mediated glycosylation is crucial for cell surface targeting of cubilin in renal and intestinal cells.

Scientific reports
2018

Wilson disease and related copper disorders.

Handbook of clinical neurology
2017

Meat Consumption During Pregnancy and Substance Misuse Among Adolescent Offspring: Stratification of TCN2 Genetic Variants.

Alcoholism, clinical and experimental research
2017

Biochemical characteristics of newborns with carnitine transporter defect identified by newborn screening in California.

Molecular genetics and metabolism
2017

Genetic polymorphisms and folate status.

Congenital anomalies
2017

Clinical or ATPase domain mutations in ABCD4 disrupt the interaction between the vitamin B12-trafficking proteins ABCD4 and LMBD1.

The Journal of biological chemistry
2018

Single allele Lmbrd1 knockout results in cardiac hypertrophy.

Journal of the Formosan Medical Association = Taiwan yi zhi
2017

Behavioral alterations are associated with vitamin B12 deficiency in the transcobalamin receptor/CD320 KO mouse.

PloS one
2017

Protein destabilization and loss of protein-protein interaction are fundamental mechanisms in cblA-type methylmalonic aciduria.

Human mutation
2017

Maternofetal transport of vitamin B12: role of TCblR/CD320 and megalin.

FASEB journal : official publication of the Federation of American Societies for Experimental Biology
2017

Megaloblastic Anemias: Nutritional and Other Causes.

The Medical clinics of North America
2016

Vitamin B12 among Vegetarians: Status, Assessment and Supplementation.

Nutrients
2017

Methionine synthase and methionine synthase reductase interact with MMACHC and with MMADHC.

Biochimica et biophysica acta. Molecular basis of disease
2016

ABC Transporter Subfamily D: Distinct Differences in Behavior between ABCD1-3 and ABCD4 in Subcellular Localization, Function, and Human Disease.

BioMed research international
2016

Homocysteine, Infections, Polyamines, Oxidative Metabolism, and the Pathogenesis of Dementia and Atherosclerosis.

Journal of Alzheimer's disease : JAD
2016

Association of KCTD10, MVK, and MMAB polymorphisms with dyslipidemia and coronary heart disease in Han Chinese population.

Lipids in health and disease
2016

Genetic animal models to decipher the pathogenic effects of vitamin B12 and folate deficiency.

Biochimie
2016

Lessons in biology from patients with inherited disorders of vitamin B12 and folate metabolism.

Biochimie
2016

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

Oxidative medicine and cellular longevity
2016

Early life stress is a risk factor for excessive alcohol drinking and impulsivity in adults and is mediated via a CRF/GABA(A) mechanism.

Stress (Amsterdam, Netherlands)
2016

Hydrogen Sulfide--Mechanisms of Toxicity and Development of an Antidote.

Scientific reports
2016

Impact of age at onset and newborn screening on outcome in organic acidurias.

Journal of inherited metabolic disease
2015

Structural Insights into the MMACHC-MMADHC Protein Complex Involved in Vitamin B12 Trafficking.

The Journal of biological chemistry
2016

Vitamin B₁₂ deficiency-induced increase of osteoclastic bone resorption caused by abnormal renal resorption of inorganic phosphorus via Napi2a.

Bioscience, biotechnology, and biochemistry
2015

Structure of Human B12 Trafficking Protein CblD Reveals Molecular Mimicry and Identifies a New Subfamily of Nitro-FMN Reductases.

The Journal of biological chemistry
2015

Genetic modifiers of folate, vitamin B-12, and homocysteine status in a cross-sectional study of the Canadian population.

The American journal of clinical nutrition
2015

Functional signatures of oral dysbiosis during periodontitis progression revealed by microbial metatranscriptome analysis.

Genome medicine
2015

Transcobalamin II Deficiency in Four Cases with Novel Mutations.

Turkish journal of haematology : official journal of Turkish Society of Haematology
2015

In-depth phenotyping of a Donnai-Barrow patient helps clarify proximal tubule dysfunction.

Pediatric nephrology (Berlin, Germany)
2015

Diagnostic yield of genetic testing in epileptic encephalopathy in childhood.

Epilepsia
2015

HCFC1 loss-of-function mutations disrupt neuronal and neural progenitor cells of the developing brain.

Human molecular genetics
2015

Association of reduced folate carrier-1 (RFC-1) polymorphisms with ischemic stroke and silent brain infarction.

PloS one
2015

Association of Transcobalamin II (TCN2) and Transcobalamin II-Receptor (TCblR) Genetic Variations With Cobalamin Deficiency Parameters in Elderly Women.

Biological research for nursing
2015

Homocysteine and the pathogenesis of atherosclerosis.

Expert review of clinical pharmacology
2015

Immunohistochemical quantification of the cobalamin transport protein, cell surface receptor and Ki-67 in naturally occurring canine and feline malignant tumors and in adjacent normal tissues.

Oncotarget
2016

Interactions of vitamin D and the proximal tubule.

Pediatric nephrology (Berlin, Germany)

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Doenças relacionadas

Doenças com sintomas parecidos — ajudam quem ainda está buscando diagnóstico

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. Stepwise phage resistance and collateral phage susceptibility in Klebsiella pneumoniae.
    Emerging microbes &amp; infections· 2026· PMID 41852278mais citado
  2. Signal-Level Determinants of Cognitive Decline With PPIs versus H2RAs: Transportome (CBLIF/TCN2) and CHRNA7 Nodes.
    Molecular nutrition &amp; food research· 2026· PMID 41663888mais citado
  3. Modelling CubAm function and regulation in proximal tubular cells using iPSC-derived kidney organoids.
    Experimental cell research· 2025· PMID 41192745mais citado
  4. Intramuscular Vitamin B12 Treatment in Transcobalamin II Deficiency: Case Series Clinical Outcomes.
    The application of clinical genetics· 2025· PMID 40496011mais citado
  5. Analysis of the Association Between the SLC19A1 Genetic Variant (rs1051266) and Autism Spectrum Disorders, Cerebral Folate Deficiency, and Clinical and Laboratory Parameters.
    Journal of molecular neuroscience : MN· 2025· PMID 40156756mais citado
  6. Fatty acids and albumin are transported by distinct mechanisms in the proximal tubule.
    Am J Physiol Renal Physiol· 2025· PMID 40875392recente
  7. Vitamin B(12) uptake across the mycobacterial outer membrane is influenced by membrane permeability in Mycobacterium marinum.
    Microbiol Spectr· 2024· PMID 38722177recente
  8. Transmembrane helix 6 of ABCD4 is indispensable for cobalamin transport.
    J Inherit Metab Dis· 2024· PMID 38069516recente
  9. Vitamin B12 deficiency.
    Vitam Horm· 2022· PMID 35337628recente
  10. Structural intermediates observed only in intact Escherichia coli indicate a mechanism for TonB-dependent transport.
    Elife· 2021· PMID 34251336recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:79171(Orphanet)
  2. MONDO:0019220(MONDO)
  3. GARD:18951(GARD (NIH))
  4. Variantes catalogadas(ClinVar)
  5. Busca completa no PubMed(PubMed)
  6. Q55788542(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

Compêndio · Raras BR

Doença do metabolismo da cobalamina

ORPHA:79171 · MONDO:0019220
CID-11
MedGen
UMLS
C5681844
Wikidata
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