Raras
Buscar doenças, sintomas, genes...
Doença do metabolismo da fenilalanina ou tirosina
ORPHA:79190DOENÇA RARA

Um aminoácido essencial ou indispensável é um aminoácido que deve ser incluído na nossa alimentação para manter uma boa saúde. Considere os seguintes aminoácidos: fenilalanina, valina, treonina, triptofano, isoleucina, metionina, leucina, lisina e histidina.

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Introdução

O que você precisa saber de cara

📋

Doença rara do metabolismo da fenilalanina ou tirosina, caracterizada por um espectro de manifestações como extrofia da bexiga, raquitismo, aminoacidúria e comprometimento cognitivo. Afeta múltiplos genes, incluindo TH, TYR e HGD, resultando em fenótipos variados.

Medicamentos
3 registrados
NITISINONE, SAPROPTERIN DIHYDROCHLORIDE, SAPROPTERIN

Tem tratamento?

3 medicamentos registrados
Ver detalhes, fases e interações →
NITISINONESAPROPTERIN DIHYDROCHLORIDESAPROPTERIN
🏥
SUS: Cobertura mínimaScore: 20%
Centros em: PA, PR, SC, RS, ES +8
Você se identifica com essa condição?
O Raras está aqui pra te apoiar — com ou sem diagnóstico

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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
36 sintomas
👁️
Olhos
27 sintomas
🧬
Pele e cabelo
24 sintomas
🫘
Rins
21 sintomas
🦴
Ossos e articulações
19 sintomas
❤️
Coração
14 sintomas

+ 118 sintomas em outras categorias

Características mais comuns

Extrofia da bexiga
Raquitismo dos membros inferiores
Aminoacidúria generalizada
Ceratose actínica
Neoplasia da pele
Morfologia anormal da vasculatura coroidal
304sintomas
Sem dados (304)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 304 características clínicas mais associadas, ordenadas por frequência.

Extrofia da bexigaBladder exstrophy
Raquitismo dos membros inferioresRickets of the lower limbs
Aminoacidúria generalizadaGeneralized aminoaciduria
Ceratose actínicaActinic keratosis
Neoplasia da peleNeoplasm of the skin

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1
Últimos 10 anos200publicações
Pico2026195 papers
Linha do tempo
2025Hoje · 2026
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

11 genes identificados com associação a esta condição.

THTyrosine 3-monooxygenaseDisease-causing germline mutation(s) inTolerante
FUNÇÃO

Catalyzes the conversion of L-tyrosine to L-dihydroxyphenylalanine (L-Dopa), the rate-limiting step in the biosynthesis of catecholamines, dopamine, noradrenaline, and adrenaline. Uses tetrahydrobiopterin and molecular oxygen to convert tyrosine to L-Dopa (PubMed:15287903, PubMed:1680128, PubMed:17391063, PubMed:24753243, PubMed:34922205, PubMed:8528210, Ref.18). In addition to tyrosine, is able to catalyze the hydroxylation of phenylalanine and tryptophan with lower specificity (By similarity).

LOCALIZAÇÃO

Cytoplasm, perinuclear regionNucleusCell projection, axonCytoplasmCytoplasmic vesicle, secretory vesicle, synaptic vesicle

VIAS BIOLÓGICAS (1)
Catecholamine biosynthesis
MECANISMO DE DOENÇA

Segawa syndrome autosomal recessive

A form of DOPA-responsive dystonia presenting in infancy or early childhood. Dystonia is defined by the presence of sustained involuntary muscle contractions, often leading to abnormal postures. Some cases present with parkinsonian symptoms in infancy. Unlike all other forms of dystonia, it is an eminently treatable condition, due to a favorable response to L-DOPA.

EXPRESSÃO TECIDUAL(Tecido-específico)
Substância negra
45.8 TPM
Hipotálamo
14.1 TPM
Brain Caudate basal ganglia
5.4 TPM
Glândula adrenal
4.2 TPM
Brain Nucleus accumbens basal ganglia
3.6 TPM
OUTRAS DOENÇAS (1)
TH-deficient dopa-responsive dystonia
HGNC:11782UniProt:P07101
TSPOAP1Peripheral-type benzodiazepine receptor-associated protein 1Candidate gene tested inRestrito
FUNÇÃO

Required for synaptic transmission regulation (PubMed:33539324). It probably controls the recruitment of voltage-gated calcium channels to the presynaptic membrane, and modulates neurotransmitter release

LOCALIZAÇÃO

CytoplasmMitochondrion

VIAS BIOLÓGICAS (6)
Serotonin Neurotransmitter Release CycleGlutamate Neurotransmitter Release CycleNorepinephrine Neurotransmitter Release CycleAcetylcholine Neurotransmitter Release CycleDopamine Neurotransmitter Release Cycle
MECANISMO DE DOENÇA

Dystonia 22, adult-onset

A form of dystonia, a disorder defined by the presence of sustained involuntary muscle contraction, often leading to abnormal postures. DYT22AO is an autosomal recessive form characterized by focal dystonia or tremor and mild cognitive impairment.

EXPRESSÃO TECIDUAL(Ubíquo)
Córtex cerebral
88.0 TPM
Brain Anterior cingulate cortex BA24
77.8 TPM
Cerebelo
74.0 TPM
Brain Frontal Cortex BA9
72.3 TPM
Cérebro - Amígdala
59.8 TPM
OUTRAS DOENÇAS (3)
dystonia 22, juvenile-onsetdystonia 22, adult-onsetTH-deficient dopa-responsive dystonia
HGNC:16831UniProt:O95153
HGDHomogentisate 1,2-dioxygenaseDisease-causing germline mutation(s) inTolerante
FUNÇÃO

Catalyzes the conversion of homogentisate to maleylacetoacetate

LOCALIZAÇÃO

VIAS BIOLÓGICAS (1)
Tyrosine catabolism
MECANISMO DE DOENÇA

Alkaptonuria

An autosomal recessive error of metabolism characterized by an increase in the level of homogentisic acid. The clinical manifestations are urine that turns dark on standing and alkalinization, black ochronotic pigmentation of cartilage and collagenous tissues, and spine arthritis.

VIAS REACTOME (1)
EXPRESSÃO TECIDUAL(Tecido-específico)
Fígado
186.2 TPM
Tireoide
52.3 TPM
Rim - Córtex
44.3 TPM
Próstata
30.3 TPM
Rim - Medula
26.1 TPM
OUTRAS DOENÇAS (1)
alkaptonuria
HGNC:4892UniProt:Q93099
TYRTyrosinaseDisease-causing germline mutation(s) inTolerante
FUNÇÃO

This is a copper-containing oxidase that functions in the formation of pigments such as melanins and other polyphenolic compounds. Catalyzes the initial and rate limiting step in the cascade of reactions leading to melanin production from tyrosine (By similarity). In addition to hydroxylating tyrosine to DOPA (3,4-dihydroxyphenylalanine), also catalyzes the oxidation of DOPA to DOPA-quinone, and possibly the oxidation of DHI (5,6-dihydroxyindole) to indole-5,6 quinone (PubMed:28661582)

LOCALIZAÇÃO

Melanosome membraneMelanosome

VIAS BIOLÓGICAS (2)
Melanin biosynthesisRegulation of MITF-M-dependent genes involved in pigmentation
MECANISMO DE DOENÇA

Albinism, oculocutaneous, 1A

An autosomal recessive disorder in which the biosynthesis of melanin pigment is absent in skin, hair, and eyes. It is characterized by complete lack of tyrosinase activity due to production of an inactive enzyme. Patients present with a life-long absence of melanin pigment after birth, and manifest increased sensitivity to ultraviolet radiation with predisposition to skin cancer. Visual anomalies include decreased acuity, nystagmus, strabismus and photophobia.

EXPRESSÃO TECIDUAL(Tecido-específico)
Skin Sun Exposed Lower leg
7.7 TPM
Skin Not Sun Exposed Suprapubic
6.6 TPM
Aorta
0.1 TPM
Testículo
0.1 TPM
Glândula salivar
0.1 TPM
OUTRAS DOENÇAS (5)
oculocutaneous albinism type 1Boculocutaneous albinism type 1Aminimal pigment oculocutaneous albinism type 1Waardenburg syndrome type 2
HGNC:12442UniProt:P14679
GCH1GTP cyclohydrolase 1Disease-causing germline mutation(s) inAltamente restrito
FUNÇÃO

Positively regulates nitric oxide synthesis in umbilical vein endothelial cells (HUVECs). May be involved in dopamine synthesis. May modify pain sensitivity and persistence. Isoform GCH-1 is the functional enzyme, the potential function of the enzymatically inactive isoforms remains unknown

LOCALIZAÇÃO

CytoplasmNucleus

VIAS BIOLÓGICAS (1)
Tetrahydrobiopterin (BH4) synthesis, recycling, salvage and regulation
MECANISMO DE DOENÇA

Hyperphenylalaninemia, BH4-deficient, B

A disease characterized by malignant hyperphenylalaninemia due to tetrahydrobiopterin deficiency, and defective neurotransmission due to depletion of the neurotransmitters dopamine and serotonin. The principal symptoms include: psychomotor retardation, tonicity disorders, convulsions, drowsiness, irritability, abnormal movements, hyperthermia, hypersalivation, and difficulty swallowing. Some patients may present a phenotype of intermediate severity between severe hyperphenylalaninemia and mild dystonia. In this intermediate phenotype, there is marked motor delay, but no intellectual disability and only minimal, if any, hyperphenylalaninemia.

EXPRESSÃO TECIDUAL(Ubíquo)
Fígado
49.0 TPM
Linfócitos
35.0 TPM
Pulmão
24.3 TPM
Baço
16.3 TPM
Intestino delgado
15.3 TPM
OUTRAS DOENÇAS (3)
dystonia 5GTP cyclohydrolase I deficiency with hyperphenylalaninemiaautosomal dominant dopa-responsive dystonia
HGNC:4193UniProt:P30793
TATTyrosine aminotransferaseDisease-causing germline mutation(s) inTolerante
FUNÇÃO

Transaminase involved in tyrosine breakdown. Converts tyrosine to p-hydroxyphenylpyruvate. Can catalyze the reverse reaction, using glutamic acid, with 2-oxoglutarate as cosubstrate (in vitro). Has much lower affinity and transaminase activity towards phenylalanine

LOCALIZAÇÃO

VIAS BIOLÓGICAS (1)
Tyrosine catabolism
MECANISMO DE DOENÇA

Tyrosinemia 2

An inborn error of metabolism characterized by elevations of tyrosine in the blood and urine, and oculocutaneous manifestations. Typical features include palmoplantar keratosis, painful corneal ulcers, and intellectual disability.

VIAS REACTOME (1)
EXPRESSÃO TECIDUAL(Tecido-específico)
Fígado
474.0 TPM
Testículo
3.5 TPM
Mama
2.1 TPM
Intestino delgado
0.4 TPM
Cólon transverso
0.2 TPM
OUTRAS DOENÇAS (1)
tyrosinemia type II
HGNC:11573UniProt:P17735
FAHFumarylacetoacetaseDisease-causing germline mutation(s) inTolerante
LOCALIZAÇÃO

VIAS BIOLÓGICAS (1)
Tyrosine catabolism
MECANISMO DE DOENÇA

Tyrosinemia 1

An inborn error of metabolism characterized by elevations of tyrosine in the blood and urine, and hepatorenal manifestations. Typical features include hepatic necrosis, renal tubular injury, episodic weakness, self-mutilation, and seizures. Renal tubular dysfunction is associated with phosphate loss and hypophosphataemic rickets. Progressive liver disease can lead to the development of hepatocellular carcinoma. Dietary treatment with restriction of tyrosine and phenylalanine alleviates the rickets, but liver transplantation has so far been the only definite treatment.

VIAS REACTOME (1)
EXPRESSÃO TECIDUAL(Ubíquo)
Fígado
52.4 TPM
Tecido adiposo
35.8 TPM
Glândula adrenal
33.7 TPM
Adipose Visceral Omentum
32.9 TPM
Mama
25.4 TPM
OUTRAS DOENÇAS (1)
tyrosinemia type I
HGNC:3579UniProt:P16930
HPD4-hydroxyphenylpyruvate dioxygenaseDisease-causing germline mutation(s) inTolerante
FUNÇÃO

Catalyzes the conversion of 4-hydroxyphenylpyruvic acid to homogentisic acid, one of the steps in tyrosine catabolism

LOCALIZAÇÃO

CytoplasmEndoplasmic reticulum membraneGolgi apparatus membrane

VIAS BIOLÓGICAS (1)
Tyrosine catabolism
MECANISMO DE DOENÇA

Tyrosinemia 3

An autosomal recessive inborn error of metabolism characterized by high levels of tyrosine in the blood, massive excretion of its derivatives into urine, seizures and mild intellectual disability.

VIAS REACTOME (1)
EXPRESSÃO TECIDUAL(Ubíquo)
Fígado
1002.3 TPM
Rim - Córtex
168.7 TPM
Rim - Medula
23.0 TPM
Testículo
22.2 TPM
Aorta
16.3 TPM
OUTRAS DOENÇAS (2)
tyrosinemia type IIIhawkinsinuria
HGNC:5147UniProt:P32754
SPRSepiapterin reductaseDisease-causing germline mutation(s) inTolerante
FUNÇÃO

Catalyzes the final one or two reductions in tetra-hydrobiopterin biosynthesis to form 5,6,7,8-tetrahydrobiopterin

LOCALIZAÇÃO

Cytoplasm

VIAS BIOLÓGICAS (1)
Tetrahydrobiopterin (BH4) synthesis, recycling, salvage and regulation
MECANISMO DE DOENÇA

Dystonia, DOPA-responsive, due to sepiapterin reductase deficiency

A form of DOPA-responsive dystonia. In the majority of cases, patients manifest progressive psychomotor retardation, dystonia and spasticity. Cognitive anomalies are also often present. The disease is due to severe dopamine and serotonin deficiencies in the central nervous system caused by a defect in BH4 synthesis. Dystonia is defined by the presence of sustained involuntary muscle contractions, often leading to abnormal postures.

EXPRESSÃO TECIDUAL(Ubíquo)
Glândula adrenal
70.4 TPM
Fígado
65.9 TPM
Cólon transverso
50.9 TPM
Estômago
50.8 TPM
Próstata
49.3 TPM
OUTRAS DOENÇAS (1)
dopa-responsive dystonia due to sepiapterin reductase deficiency
HGNC:11257UniProt:P35270
PAHPhenylalanine-4-hydroxylaseDisease-causing germline mutation(s) inTolerante
FUNÇÃO

Catalyzes the hydroxylation of L-phenylalanine to L-tyrosine

LOCALIZAÇÃO

VIAS BIOLÓGICAS (1)
Phenylalanine metabolism
MECANISMO DE DOENÇA

Phenylalanine hydroxylase deficiency

An autosomal recessive inborn error of phenylalanine metabolism characterized by intolerance to dietary intake of the essential amino acid phenylalanine. The disease spectrum depends on the degree of PAH deficiency and the phenylalanine levels in plasma. Severe deficiency causes classic phenylketonuria (PKU) that is characterized by plasma concentrations of phenylalanine persistently above 1200 umol/L. PKU patients develop profound and irreversible intellectual disability, unless low phenylalanine diet is introduced early in life. They tend to have light pigmentation, rashes similar to eczema, epilepsy, extreme hyperactivity, psychotic states and an unpleasant 'mousy' odor. Less severe forms of PAH deficiency are characterized by phenylalanine levels above normal (120 umol/L) but below 1200 umol/L and include moderate PKU, mild PKU, non-PKU hyperphenylalaninemia (non-PKU HPA) and mild hyperphenylalaninemia. Individuals with PAH deficiency who have plasma phenylalanine concentrations consistently below 600 umol/L on an unrestricted diet are not at higher risk of developing intellectual, neurologic, and neuropsychological impairment than are individuals without PAH deficiency.

EXPRESSÃO TECIDUAL(Tecido-específico)
Fígado
252.5 TPM
Rim - Córtex
28.6 TPM
Rim - Medula
6.4 TPM
Testículo
4.4 TPM
Pâncreas
3.0 TPM
OUTRAS DOENÇAS (3)
phenylketonuriamaternal phenylketonuriatetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria
HGNC:8582UniProt:P00439
QDPRDihydropteridine reductaseDisease-causing germline mutation(s) inTolerante
FUNÇÃO

Catalyzes the conversion of quinonoid dihydrobiopterin into tetrahydrobiopterin

LOCALIZAÇÃO

VIAS BIOLÓGICAS (1)
Phenylalanine metabolism
MECANISMO DE DOENÇA

Hyperphenylalaninemia, BH4-deficient, C

Rare autosomal recessive disorder characterized by hyperphenylalaninemia and severe neurologic symptoms (malignant hyperphenylalaninemia) including axial hypotonia and truncal hypertonia, abnormal thermogenesis, and microcephaly. These signs are attributable to depletion of the neurotransmitters dopamine and serotonin, whose syntheses are controlled by tryptophan and tyrosine hydroxylases that use BH-4 as cofactor. Patients do not respond to phenylalanine-restricted diet. HPABH4C is lethal if untreated.

VIAS REACTOME (1)
EXPRESSÃO TECIDUAL(Ubíquo)
Brain Spinal cord cervical c-1
456.6 TPM
Substância negra
389.8 TPM
Brain Putamen basal ganglia
264.7 TPM
Hipocampo
233.0 TPM
Hipotálamo
210.5 TPM
OUTRAS DOENÇAS (1)
dihydropteridine reductase deficiency
HGNC:9752UniProt:P09417

Medicamentos e terapias

NITISINONEPhase 4

Mecanismo: 4-hydroxyphenylpyruvate dioxygenase inhibitor

SAPROPTERIN DIHYDROCHLORIDEPhase 4

Mecanismo: Phenylalanine-4-hydroxylase activator

SAPROPTERINPhase 3

Mecanismo: Phenylalanine-4-hydroxylase activator

Ver mais no OpenTargets

Variantes genéticas (ClinVar)

1,540 variantes patogênicas registradas no ClinVar.

🧬 TH: NM_000360.4(TH):c.645-15T>G ()
🧬 TH: NM_000360.4(TH):c.696-19T>C ()
🧬 TH: NM_000360.4(TH):c.197A>C (p.Asp66Ala) ()
🧬 TH: NM_000360.4(TH):c.1002G>A (p.Gly334=) ()
🧬 TH: NM_000360.4(TH):c.91-834C>T ()
Ver todas no ClinVar

Diagnóstico

Os sinais que médicos procuram e os exames que confirmam

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Tratamento e manejo

Remédios, cuidados de apoio e o que precisa acompanhar

Pipeline de tratamentos
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Aprovado2
3Fase 31
Medicamentos catalogadosEnsaios clínicos· 3 medicamentos · 0 ensaios
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NITISINONESAPROPTERIN DIHYDROCHLORIDE
Carregando informações de tratamento...

Onde tratar no SUS

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

🇧🇷 Atendimento SUS — Doença do metabolismo da fenilalanina ou tirosina

Centros de Referência SUS

21 centros habilitados pelo SUS para Doença do metabolismo da fenilalanina ou tirosina

Centros para Doença do metabolismo da fenilalanina ou tirosina

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

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

Serviço de Referência

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

Serviço de Referência

Rota
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

Serviço de Referência

Rota
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

Rota
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

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital de Clínicas da UNICAMP

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

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital de Clínicas de Ribeirão Preto (HCRP-USP)

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

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

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

Rota
Erros Inatos do Metabolismo

UNIFESP / Hospital São Paulo

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

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do Metabolismo
Sobre os centros SUS: Estes centros são habilitados pelo Ministério da Saúde como Serviços de Referência em Doenças Raras ou Serviços de Atenção Especializada. O atendimento é pelo SUS, com encaminhamento da rede de atenção básica.

Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.

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Publicações mais relevantes

Timeline de publicações
0 papers (10 anos)
#1

Tyrosine Hydroxylase Deficiency Impairs TH Axonal Transport, Brain Function, and Neuronal Plasticity.

Journal of inherited metabolic disease2026 Mar

A deficiência de Tirosina Hidroxilase (THD) é uma doença genética rara que causa a diminuição da produção de dopamina, resultando em sintomas como distonia e parkinsonismo infantil, com resposta variável à L-Dopa. Este estudo revela que a redução da enzima TH no cérebro não se deve à degeneração neuronal, mas sim a um transporte defeituoso da proteína TH dentro dos neurônios. Essa falha de transporte desorganiza circuitos cerebrais importantes, mas o cérebro desenvolve plasticidade compensatória sem que haja morte de neurônios, o que é crucial para o prognóstico e futuras estratégias terapêuticas.

🇧🇷 traduzido
#2

Oseltamivir aziridines are potent influenza neuraminidase inhibitors and imaging agents.

Proceedings of the National Academy of Sciences of the United States of America2026 Mar 31

Este artigo descreve uma nova classe de compostos, as oseltamivir aziridinas, que visam superar as limitações dos tratamentos atuais para a gripe, como a resistência. Estes novos inibidores atuam de forma mais potente e permanente, ligando-se covalentemente à neuraminidase do vírus da influenza, tornando-os eficazes contra diversas estirpes, incluindo a H5N1. Para pacientes e médicos, representam uma promissora ferramenta com duplo potencial: tanto como tratamento mais eficaz para a gripe quanto como agentes de imagem para diagnóstico e monitoramento da infecção. *(Nota: O artigo fornecido trata sobre o metabolismo do vírus da influenza, não sobre distúrbios do metabolismo da fenilalanina ou tirosina, apesar da menção no prompt inicial. O resumo foi focado no conteúdo do artigo sobre influenza.)*

🇧🇷 traduzido
#3

Exploring SIK2-CXCL5 interactions in neutrophils: A novel mechanism for modulating IL-23 and psoriasis progression.

Immunology and cell biology2026 Mar 23

Este estudo científico identificou a proteína SIK2 como um modulador crucial da inflamação na psoríase. Foi demonstrado que o aumento da SIK2 reduz a gravidade da doença e a secreção de citocinas inflamatórias (como IL-23) em neutrófilos, através de sua interação com a proteína CXCL5. Esses achados posicionam a SIK2 como um alvo terapêutico promissor para futuras abordagens no tratamento da psoríase.

🇧🇷 traduzido
#4

Python metabolomics uncovers a conserved postprandial metabolite and gut-brain feeding pathway.

Nature metabolism2026 Mar 19

Este estudo revelou que o metabólito pTOS (para-tiramina-O-sulfato), produzido por bactérias intestinais a partir da tirosina da dieta, aumenta dramaticamente após uma refeição em pitons e em humanos. O pTOS demonstrou suprimir o apetite e reduzir o peso corporal em camundongos obesos ao ativar centros de saciedade no cérebro. Para pacientes e médicos, o pTOS representa um potencial novo alvo terapêutico para o tratamento da obesidade e para o controle do equilíbrio energético, ao ligar a ingestão de nutrientes à sensação de saciedade.

🇧🇷 traduzido
#5

Molecular and cellular consequences of tumour-autonomous IL-6 signalling in intrahepatic cholangiocarcinoma.

Gut2026 Mar 19

O título fornecido ("Disorder of phenylalanine or tyrosine metabolism") não corresponde ao conteúdo do resumo, que trata de colangiocarcinoma intra-hepático (iCCA) e sinalização de IL-6. O resumo abaixo é baseado exclusivamente no conteúdo do texto fornecido sobre iCCA. Neste estudo sobre colangiocarcinoma intra-hepático (iCCA), onde altos níveis de IL-6 predizem mau prognóstico, descobriu-se que as próprias células tumorais produzem autonomamente IL-6. Essa sinalização crônica de IL-6 impulsiona programas genéticos e metabólicos distintos, tornando as células tumorais sensíveis à inibição de NAMPT, uma nova vulnerabilidade terapêutica que também reduz a IL-6. Além disso, a IL-6 altera o microambiente tumoral, suprimindo funções imunes essenciais e promovendo a comunicação com células que favorecem o câncer, revelando múltiplos mecanismos para a progressão da doença e potenciais alvos para tratamento.

🇧🇷 traduzido

Publicações recentes

📚 EuropePMCmostrando 199

2026

Arenarine D Promotes Pancreatic β Cell Proliferation Via DYRK1A Inhibition for T1DM Therapy.

Chemistry & biodiversity
2026

Seed metabolomic profiling of contrasting mung bean (Vigna radiata) genotypes under heat stress.

Scientific reports
2026

Cerebrospinal fluid and plasma metabolites in Parkinson's disease: a Mendelian randomization study.

Scientific reports
2026

Tyrosine Hydroxylase Deficiency Impairs TH Axonal Transport, Brain Function, and Neuronal Plasticity.

Journal of inherited metabolic disease
2026

Perturbation of azurophilic granule integrity drives NLRP3-independent IL-1β processing and release in neutrophils.

Journal of immunology (Baltimore, Md. : 1950)
2026

Peptide-Based ROR1-Targeting PET Ligands for Melanoma Tumor Imaging: Design and Preclinical Evaluation.

Journal of medicinal chemistry
2026

Oseltamivir aziridines are potent influenza neuraminidase inhibitors and imaging agents.

Proceedings of the National Academy of Sciences of the United States of America
2026

In silico designing of palbociclib loaded PLGA long-acting intramuscular injection for palliative therapy of HR+/HER2- metastatic breast cancer.

The Journal of pharmacy and pharmacology
2026

Blocking SHP2 benefits FGFR2 inhibitor and overcomes its resistance in FGFR2-amplified gastric cancer.

eLife
2026

Development of a C5-Azidoacetamide-Modified 4-Amino-2,3-Difluorosialic Acid Activity-Based Probe for Labeling of Influenza A Neuraminidases.

Chembiochem : a European journal of chemical biology
2026

Lipid-Engineered Small-Sized Metal-Organic Frameworks for Targeted Delivery of Anlotinib in Lung Cancer Treatment.

International journal of nanomedicine
2026

Exploring SIK2-CXCL5 interactions in neutrophils: A novel mechanism for modulating IL-23 and psoriasis progression.

Immunology and cell biology
2026

Risk of CNS relapse following pathological complete response to neoadjuvant chemotherapy in early breast cancer.

Breast cancer research and treatment
2026

Changes of intracellular and extracellular organic matter in Microcystis colonies after ultrasonic stress and during recovery cultivation.

Journal of environmental management
2026

The ammonia transporter gene family and its immune regulatory role in the Pacific oyster (Crassostrea gigas).

Fish & shellfish immunology
2026

Micro-nanoplastics induce the physiological toxicity and metabolic disorder of Bacillus cereus DFH-1.

Aquatic toxicology (Amsterdam, Netherlands)
2026

Lactylation Converts ABHD6 into a Mitochondrial Regulator that Drives Lenvatinib Resistance in Hepatocellular Carcinoma.

Cancer research
2026

Klebsiella Enrichment Is Associated with Disease Severity in Ulcerative Colitis.

Journal of applied microbiology
2026

Dual Inhibition of COX-2/5-LOX Through Novel Hybrids of NSAIDs and Peptides: Insights from Molecular Dynamics Simulation and Per-Residue Decomposition.

ChemistryOpen
2026

Molecular mechanism of silver nanoparticles inhibiting primary root growth of Oryza sativa L.

RSC advances
2026

AXL and c-Met Dual-Targeting in Non-Small Cell Lung Cancer: A Review of Small-Molecule Inhibitors and Their Structure-Activity Relationships.

Archiv der Pharmazie
2026

Python metabolomics uncovers a conserved postprandial metabolite and gut-brain feeding pathway.

Nature metabolism
2026

Tyrosine hydroxylase as a therapeutic target: insights from adrenergic nerve and TNBC cell interactions.

Journal of molecular medicine (Berlin, Germany)
2026

Innovative Nanocarriers of Sorafenib in the Optimisation of Therapeutic Outcome: Challenges and Applications in Breast Cancer.

AAPS PharmSciTech
2026

Microglia cause HIV-induced transcriptional and metabolic changes in human neural organoids.

Communications biology
2026

Overcoming vascular niche-mediated TKI resistance in acute myeloid leukemia through miR-126 inhibition.

NPJ systems biology and applications
2026

Molecular and cellular consequences of tumour-autonomous IL-6 signalling in intrahepatic cholangiocarcinoma.

Gut
2026

Deubiquitination-driven adaptive programs in hepatocellular carcinoma: The emerging role of USP22 in hypoxia, metabolic rewiring, and drug resistance.

Gene
2026

A CHKA-PML autophagy checkpoint enables tumors to evade glutamine starvation.

Proceedings of the National Academy of Sciences of the United States of America
2026

Influence of Peptide-Based Chelator Sequences on HER2-Targeting Radiopeptide.

Journal of peptide science : an official publication of the European Peptide Society
2026

A Biologically Informed Machine Learning Pipeline Uncovers Metabolic Features of Intestinal Barrier Dysfunction.

Analytical chemistry
2026

Enhanced Whitening Effect of the Formulations via Inhibition of Tyrosinase Activity by Combination of 4-n-Butylresorcinol, Licochalcone A and Glabridin at an Optimal Ratio.

Skin research and technology : official journal of International Society for Bioengineering and the Skin (ISBS) [and] International Society for Digital Imaging of Skin (ISDIS) [and] International Society for Skin Imaging (ISSI)
2026

Uncontrolled hypertension in siblings: an unsuspected diagnosis.

AJOG global reports
2026

Outcomes of CDK4/6 Inhibitor-Based Therapy in Premenopausal HR+/HER2- Metastatic Breast Cancer: Real World Data From A Multicenter Study.

Pharmacotherapy
2026

Orthogonal quorum sensing circuits enable dynamic regulation in Escherichia coli.

Metabolic engineering
2026

FBXO3-mediated DUSP9 ubiquitination promotes leukemia stem cell maintenance and tyrosine kinase inhibitor resistance in chronic myeloid leukemia.

Cell reports. Medicine
2026

Antagonistic potential of Trichoderma koningiopsis and its effect on plant defense response.

Brazilian journal of biology = Revista brasleira de biologia
2026

Lactate Metabolism-Immune Regulation-Related Gene Signature in Lower-Grade Gliomas: Prognostic Model Development and Immune Characterization.

FASEB journal : official publication of the Federation of American Societies for Experimental Biology
2026

A Chirality-Guided Molecular Recognition Strategy for Targeting Intrinsically Disordered Proteins.

Chemistry (Weinheim an der Bergstrasse, Germany)
2026

A PTPN23-dependent ESCRT pathway is essential for constitutive secretion in mammalian cells.

The Journal of cell biology
2026

Targeted Ferroptosis Improves RPE Phagocytosis via MERTK/NFE2L2/HMOX1 Axis to Alleviate Retinitis Pigmentosa.

Investigative ophthalmology & visual science
2026

Skin Melanin Content and the Foveal Avascular Zone Correlation in a Healthy White Population.

Investigative ophthalmology & visual science
2026

The critical role of Atpif1 in Her2-targeted CAR-T cell therapy for solid tumor via modulation of metabolism and mtDNA-STING signal pathway.

Frontiers in immunology
2026

Tribolium castaneum with longer duration of tonic immobility have more variations corresponding to the human Parkinson's disease genomic region.

Scientific reports
2026

USP20 governs tyrosine kinase inhibitors resistance through ferroptosis evasion by targeting GPX4 in cancers.

Redox biology
2026

Canonical and Non-Canonical Mechanisms of Insulin-Dependent Signaling Regulating Adipogenic Differentiation in Adipose Tissue Renewal.

Biochemistry. Biokhimiia
2026

Inhibition of MAFB and PI3K/AKT Signaling for Hereditary FSGS with Multicentric Carpotarsal Osteolysis.

Journal of the American Society of Nephrology : JASN
2026

Simultaneous inhibition of mTOR and STING as an approach to reduce alpha-synuclein and lysosphingolipid levels in peripheral blood monocytederived macrophages and the SH-SY5Y cell line: implications for therapy of Parkinson's disease.

Biomeditsinskaia khimiia
2026

What's next in psoriatic arthritis therapy? A look at the pipeline.

Current opinion in rheumatology
2026

Mistranslation from an endogenous tRNA variant in human pan-genome cell lines.

Nucleic acids research
2026

Polymer-Surfactant Stabilized Amorphous Nanosuspension of Pazopanib: Box-Behnken Optimization and In-vivo Evaluation.

AAPS PharmSciTech
2026

Multi-omic analysis of the liver-breast axis reveals key hepatic mediators of breast cancer progression.

Science China. Life sciences
2026

Impact of NPAS2 on mPFC dopamine synthesis and nap behavior.

Nature communications
2026

[Effect of ZHU Lian's acupuncture stimulation method on neurological function in rats with ischemic stroke based on the miR-34a-5p/YWHAG pathway].

Zhongguo zhen jiu = Chinese acupuncture & moxibustion
2025

[Effects of electroacupuncture on the SIRT3/NF-κB /MAPK signaling pathway in the substantia nigra of mice with Parkinson's disease].

Zhen ci yan jiu = Acupuncture research
2025

[Wheat-grain moxibustion improves sleep in perimenopausal insomnia rats by regulating the SIRT1/Nrf2 signaling pathway].

Zhen ci yan jiu = Acupuncture research
2026

Pyrotinib or placebo in combination with trastuzumab and docetaxel for HER2 positive metastatic breast cancer: long term survival results from randomised phase 3 PHILA trial.

BMJ (Clinical research ed.)
2026

Pharmaco-behavioral profiling identifies suppressors of autism gene-associated phenotypes in zebrafish.

Proceedings of the National Academy of Sciences of the United States of America
2026

A Density Functional Theory Study on Trimethylamine N-Oxide Interactions with Amino Acid Side Chain Models: Probing the Driving Force of Lysozyme Aggregation.

Chemphyschem : a European journal of chemical physics and physical chemistry
2026

Befotertinib restored chemosensitivity to multidrug-resistant cancer cells by inhibiting the drug efflux activity of ABCB1.

The Journal of pharmacy and pharmacology
2026

Progression from Stage 1 to Stage 3 Type 1 Diabetes Characterized by Hypoglycemia.

JCEM case reports
2026

DNA Aptamer-Functionalized Fluorescent Silica Nanoparticles: A Robust Strategy for Specific Detection and Bioimaging of HER2-Overexpressing Breast Cancer.

International journal of nanomedicine
2026

Untargeted serum metabolomics and air pollution in Parkinson's disease.

Research square
2025

Histopathological and Clinical Features of HER2-Positive Breast Cancers across Hormone Receptor Subgroups: A Cross-Sectional Analysis.

F1000Research
2026

Regulation of Dormancy-Associated Genes dosR by TetR Family Regulator MRA_0776 in Mycobacterium Tuberculosis H37Ra.

ACS omega
2025

Machine learning-assisted analysis of serum metabolomics for identifying biomarkers in intrinsic and idiosyncratic drug-induced liver injury.

Frontiers in pharmacology
2026

In Silico, In Vitro, and In Vivo Antidiabetic Activity of an Alkaloid, 1, 2-Dimethoxy-12-Methyl-7-(3-Methylbut-2-en-1-yl)-12, 13-Dihydro [1,3] Benzodioxolo [5,6-c] Phenanthridin-13-ol, Isolated From a Zimbabwean Herbal Antidiabetic Medicine.

BioMed research international
2026

Final Efficacy and Safety Results of Pyrotinib Combined With Trastuzumab and Chemotherapy in Pre-Treated Human Epidermal Growth Factor Receptor 2-Positive Metastatic Breast Cancer.

Cancer medicine
2026

Repositioning of nonsedating antihistamine Ebastine for anti-lung adenocarcinoma based on EGFR/ERBB2 dual-targeting strategy.

European journal of pharmacology
2026

Inflammation-Related alterations in tyrosine metabolism are associated with anhedonia and reduced motivation in Obesity: Influence of Early-Life adversity.

Brain, behavior, and immunity
2026

Metabolomics reveals early pregnancy serum metabolic changes and predictive biomarkers in gestational diabetes mellitus.

Nutrition & metabolism
2026

Unbiased characterization of COVID-19 endotypes leads to prognostication of high-risk individuals using routine blood tests.

Communications medicine
2026

Switching cell wall-bound polysaccharides to secreted polysaccharides in lactobacilli.

Carbohydrate polymers
2026

SYK-dependent lipid handling in monocyte-derived macrophages governs functional recovery after spinal cord injury.

Brain research bulletin
2026

Design of potent, proteolytically stable stapled lipopeptide analogues of BimBH3 as PTP1B inhibitors for diabetes therapy.

European journal of medicinal chemistry
2026

Cannabisin A and B from hemp seed hulls improve glucose homeostasis by re-engaging insulin, leptin, and AMPK pathways via selective PTP1B inhibition.

Phytomedicine : international journal of phytotherapy and phytopharmacology
2026

Research progress of PTP1B inhibitors and degraders.

European journal of medicinal chemistry
2026

Real-world effectiveness of palbociclib in combination with an aromatase inhibitor in HR+/HER2- bone-only metastatic breast cancer.

Breast (Edinburgh, Scotland)
2026

Harpin Ea protein confers top rot resistance in Rosa roxburghii Tratt. through synergistic activation of structural defenses and the phenylpropanoid-flavonoid pathway.

Pest management science
2026

Genotype-Dependent Effects of Silicon on Cell Wall Composition and Antioxidant Responses in Oats Under Nitrogen Deficiency.

Plants (Basel, Switzerland)
2026

Angiogenic Imbalance in Preeclampsia: Profiling VEGF A, sFlt1, PlGF, and sFlt1/PlGF Ratios.

International journal of molecular sciences
2026

Heterogeneity of Hormone Receptors and HER2 in Breast Cancer Cutaneous Metastases: An Institutional Experience.

International journal of molecular sciences
2026

Zebrafish PRL-3 Regulates Yolk Syncytial Layer Integrity and Actomyosin Contractility During Epiboly.

International journal of molecular sciences
2026

HER2 Alterations in Non-Small Cell Lung Cancer: Emerging Perspectives on the Therapeutic Landscape.

International journal of molecular sciences
2026

Out of Nucleus: Serine 727 Phosphorylation Orchestrates Non-Canonical STAT3 Functions-Relevance to Triple-Negative Breast Cancer.

International journal of molecular sciences
2026

Deletion of TRPA1 Ion Channel Modulates the Central Stress Responses in a Mouse Model of Posttraumatic Stress Disorder.

Cells
2026

Redox-primed biocontrol application reshapes Fusarium wilt resistance and metal homeostasis in tomato under arid conditions.

BMC plant biology
2026

Beyond numbers: rethinking human milk fortification in preterm nutrition.

Pediatric research
2026

Nintedanib Lacks Efficacy in a Spirometry-Confirmed and Bleomycin-Induced Mouse Model of Idiopathic Pulmonary Fibrosis.

Basic & clinical pharmacology & toxicology
2026

Blood Based Biomarkers for Predicting Treatment Response to Immune Checkpoint Inhibitors After EGFR-TKI Resistance in Non-Small Cell Lung Cancer.

Thoracic cancer
2026

Multidisciplinary therapy managements in endometrial and renal cancer patients treated with pembrolizumab and lenvatinib: a virtuous circle between oncologists and organ specialists.

Critical reviews in oncology/hematology
2026

Rosa roxburghii Tratt. enhances fracture healing through multitarget regulation of osteogenesis and angiogenesis: Integrated network pharmacology and molecular docking analysis.

Medicine
2026

Molecular imaging of tucatinib-induced cellular and TME changes in preclinical models of HER2 + breast cancer.

Breast cancer research and treatment
2026

[New ways in interdisciplinarity: internal medicine meets human genetics : When frequent conditions become rare and rare conditions become frequent].

Innere Medizin (Heidelberg, Germany)
2026

Evaluation of RC48-ADC in Combination with PRaG Regimen: An Open-Label, Prospective, Multicentre Study Assessing Efficacy and Safety for Advanced Refractory HER2-Expressing Solid Tumors (PRaG3.0 Study Protocol).

Technology in cancer research & treatment
2026

Novel Deiodinase 2-Selective Inhibitors-Possible Reference Substances for Regulatory In Vitro Tests for Endocrine Disruptors and Drugs Targeting T3-Dependent Processes.

Thyroid : official journal of the American Thyroid Association
2026

Perioperative EGFR-Targeted Therapy in Resectable EGFR-Mutated NSCLC: A Narrative Review from Drug Design to Pain-Informed MRD-Guided Care.

Drug design, development and therapy
2026

Natural products as kinase inhibitors in lung cancer: molecular mechanisms, therapeutic potential, and clinical trials.

Frontiers in pharmacology
2026

Melanin pigments protect nucleic acid integrity.

Journal of the Royal Society, Interface
2026

Effects of L-Tyrosine Ingestion on Endurance Performance in Mentally Fatigued Cyclists.

European journal of sport science
2026

Targeting the Hippo pathway in pulmonary arterial hypertension: emerging pharmacological strategies.

Journal of hypertension
2026

Clinicopathological Spectrum and Biomarker Profile of Male Breast Cancer: A Retrospective Study from a Tertiary Care Center in South India.

The Journal of the Association of Physicians of India
2026

Dopaminergic Modulation of Striatal Somatostatin Interneurons Shapes Motor Learning and L-DOPA-Induced Dyskinesia.

Molecular neurobiology
2026

Overexpression of S100 Calcium-Binding Protein A2 is Associated With Poor Prognosis in Hepatocellular Carcinoma.

Cancer control : journal of the Moffitt Cancer Center
2026

Serum Metabolomic Signature of Gliomas in an Indian Cohort: Identification of Grade-Specific Alterations and Potential Biomarkers.

Neurology India
2026

NIPAL1 Drives a Metabolic-Epigenetic Feedback Loop to Promote Lactate-Mediated Immune Evasion in Esophageal Cancer.

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

Advancing Targeted Protein Degradation Through Immunoproteasome-Caged N-Degrons.

Chembiochem : a European journal of chemical biology
2026

Integrated transcriptome and metabolome analysis reveals the molecular mechanism underlying differences in Psa resistance between Actinidia valvata and Actinidia chinensis.

Frontiers in plant science
2026

Transcriptomic Analysis and Biocontrol Potential of Bacillus velezensis T25 against Fusarium Wilt of Banana.

Plant disease
2026

[Analgesic mechanism of Entadae Semen based on its in vivo material basis and regulation of SRC-mediated microglial polarization in a rat model of chronic compression of dorsal root ganglion].

Zhongguo Zhong yao za zhi = Zhongguo zhongyao zazhi = China journal of Chinese materia medica
2026

[Efficacy comparison of Atractylodis Macrocephalae Rhizoma with different growth years in treatment of slow transit constipation and its mechanism].

Zhongguo Zhong yao za zhi = Zhongguo zhongyao zazhi = China journal of Chinese materia medica
2026

[Two new acyclic terpenoids from Croci Stigma].

Zhongguo Zhong yao za zhi = Zhongguo zhongyao zazhi = China journal of Chinese materia medica
2026

[Panax notoginseng saponins mediated inhibition of human aortic valve interstitial cell calcification via SYK/NF-κB pathway].

Zhongguo Zhong yao za zhi = Zhongguo zhongyao zazhi = China journal of Chinese materia medica
2026

[Baihe Dihuang Decoction attenuates hippocampal neuronal injury in anxious depression by inhibiting SHP2].

Zhongguo Zhong yao za zhi = Zhongguo zhongyao zazhi = China journal of Chinese materia medica
2026

Tumour specific HORMAD1 expression perturbs mitotic arrest and drives sensitivity to mitotic kinase inhibitors.

Nature communications
2026

Predictors of Pathologically Negative Sentinel Lymph Nodes and Recurrence-Free Survival in Women with Invasive Breast Cancer Treated with Neoadjuvant Chemotherapy.

Journal of Nippon Medical School = Nippon Ika Daigaku zasshi
2026

Brain lipidomics identifies mitochondrial redox dysfunction and metabolic trade-offs associated with Parkinson's disease-like pathology induced by Nanoplastics exposure.

Free radical biology & medicine
2026

Revealing the transcriptional profile of fish muscle cells in vitro and in vivo: Insights to improve fish muscle culture.

Comparative biochemistry and physiology. Part D, Genomics & proteomics
2026

NFIC suppressed the development of Glioma via modulating the balance of SHP2/PI3K and NF-κB/PTEN Signaling.

PloS one
2026

The Traditional Chinese Medicine Compound Hezi Qingyou Formula Controls the MAPK Signaling Pathway for Alleviating Gastric Ulcer Induced by Acetic Acid in Rats.

Journal of immunology research
2026

Lnc-CHRM4-2:1 Inhibits M2 Polarization and Efferocytosis of Macrophages by Downregulating MerTK and SLC2A1 in Rheumatoid Arthritis.

Journal of immunology research
2025

[Linking tetrahydrobiopterin depletion to ferroptosis: A novel mechanism of neurological injury in Hyperphenylalaninemia].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
2026

Tissue-level Consequences of Segmental Abnormalities in Hirudo verbana: A Morphological and Histological Approach.

Turkiye parazitolojii dergisi
2026

Current evidence on non-surgical therapies for Dupuytren's disease: A clinical review.

Journal of hand and microsurgery
2026

Slipping Through the Chasm of Multicenter Hand-offs-Rare Incidence of Nintedanib Induced Renal Failure: Case Report.

Journal of community hospital internal medicine perspectives
2026

PKC-iota drives EGFR-TKI resistance in EGFR-mutated NSCLC by phosphorylating FASN to reprogram lipid metabolism.

Translational lung cancer research
2026

Patient-reported outcomes in NRG Oncology RTOG 1010: Phase 3 trial evaluating the addition of trastuzumab to trimodality treatment of HER2 overexpressing esophageal adenocarcinoma.

Cancer
2026

Strain-specific effects of lactic acid bacteria on rambutan juice fermentation: Insights from physicochemical, volatile, and non-volatile profiles.

Food chemistry
2026

ALK-positive, EBV-positive Large B-cell lymphoma in an HIV patient: a diagnostic pitfall mimicking plasmablastic lymphoma.

Journal of hematopathology
2026

Targeted Profiling of Tryptophan- and Tyrosine-Derived Metabolites in Traditionally Fermented Foods.

Plant foods for human nutrition (Dordrecht, Netherlands)
2026

Nup107 is a crucial regulator of torso-mediated metamorphic transition in Drosophila melanogaster.

eLife
2026

Ceritinib Induces Mitochondrial Fragmentation in Thyroid Cancer Cells by Targeting Drp-1.

Drug development research
2026

Engineering glyphosate tolerance in sugarcane through overexpression of a mutated version of its native EPSPS gene.

GM crops & food
2026

Human IDO2 exhibits unique binding affinities distinct to those of human IDO1.

The FEBS journal
2026

Immunosuppressive Tumor Microenvironment and Therapeutic Landscape of Diffuse Intrinsic Pontine Glioma.

Medicinal research reviews
2026

Targeted therapy for ALK-positive histiocytosis masquerading as optic nerve tumor: a case report.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
2026

The Innovative Multi-Marker Selection System Based on Tyrosine Synthesis Pathway for Monoclonal Antibody Expression in CHO Cells.

Biotechnology and bioengineering
2026

Identification and characterization of a wet adhesive protein extracted from Dreissena bugensis, the freshwater quagga mussel.

Proceedings of the National Academy of Sciences of the United States of America
2026

Cardiotoxic Effects of Osimertinib Compared to Other EGFR Inhibitors: A Systematic Review and Meta-Analysis.

Cardiovascular toxicology
2026

Effects of Music Therapy Combined with Hospital-Community Integrated Care on the Psychological Status of Patients with Parkinson's Disease Treated with Pramipexole and Levodopa.

Noise & health
2026

PTPN1 Regulation via YBX1-PTBP1 Interaction Promotes Fibroblast Activation and Fibrotic Remodeling in the Lung.

International journal of biological sciences
2026

Small metabolites vary in sow milk across the course of lactation, while moringa supplementation and cooling sows exposed to heat stress conditions have limited effects.

Translational animal science
2026

Amenability of the Gatekeeper Enzyme HphA to Engineering in the Homologation Pathway of l‑Phenylalanine and l‑Tyrosine through Homology-Based Site-Directed Mutagenesis.

ACS omega
2026

Critique of phase II agents for non-small cell lung cancer: what is our clinical need and which agents have potential?

Expert opinion on investigational drugs
2026

High-throughput screened kaempferitrin potentiates trastuzumab efficacy in HER2-positive gastric cancer by targeting Cyclooxygenase-2 to inhibit ERK signaling.

Phytomedicine : international journal of phytotherapy and phytopharmacology
2026

The H2S donor sulforaphane inhibits NLRP3 inflammasome activation by inducing mitochondrial autophagy and mitigating CBS-H2S axis damage in in-vitro and in-vivo models of Parkinson's disease.

Bioorganic chemistry
2026

[Correlation of STAT6 and HER2-low expression with clinicopathological features and prognosis in triple negative breast cancer].

Zhonghua bing li xue za zhi = Chinese journal of pathology
2026

[FGFR1 mRNA expression in different molecular subtypes of breast cancer].

Zhonghua bing li xue za zhi = Chinese journal of pathology
2026

S(-II) enhances Cd adsorption to release 2,3-dihydroxybenzoylserine and alleviate Fe(III)-induced ROS in high-siderophore-yielding bacteria.

Journal of hazardous materials
2026

A bis-phosphorylated peptide wrangles the SHP2 tandem SH2 domains into shape.

Structure (London, England : 1993)
2026

High-density branched α-amylase hydrolyzates from α-glucans exhibit distinct glucose and appetite-regulatory functions in vivo.

Food research international (Ottawa, Ont.)
2026

Functional evaluation of a Staphylococcus vitulinus protease: Biochemical properties, structural adaptation, and application in myofibrillar proteins.

Food research international (Ottawa, Ont.)
2026

Effect of solid-state fermentation on protein content, amino acid digestibility and anti-nutritional components of common beans, lentils and chickpeas.

Food research international (Ottawa, Ont.)
2026

Hepatoprotective potential of anthocyanins from purple highland barley bran against non-alcoholic fatty liver disease through gut-liver axis.

Food research international (Ottawa, Ont.)
2026

Dose- and sex-related effects of the MAGL inhibitor MCH11 on binge-like ethanol consumption in mice.

Neuropharmacology
2026

Bupleurum chinense DC. ameliorates depression through hepatic lipopolysaccharide-binding protein-associated inflammation and monoamine biosynthesis.

Journal of ethnopharmacology
2026

QM/MM study of the catalytic reaction of potato epoxide hydrolase.

International journal of biological macromolecules
2026

Dual Stress Postischemia Deprivation Depression via Metabolic Disturbance in Rodents.

The Journal of surgical research
2026

Differential Clinical Outcomes of Palliative Radiotherapy among Different Molecular Subtypes of Metastatic Breast Cancer: A Prospective Study.

Asian Pacific journal of cancer prevention : APJCP
2026

Pertuzumab and Pathological Complete Response in Early HER2+ Breast Cancer: A Systematic Review and Meta-analysis of Real-World Studies.

Asian Pacific journal of cancer prevention : APJCP
2026

Integrative metabolomics and network pharmacology reveal the antifibrotic mechanisms of Gurigumu-13 in a rat model of hepatic fibrosis.

Clinical & translational oncology : official publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico
2026

Impact of sulfamethoxazole, trimethoprim, diclofenac, carbamazepine, and their mixture on the metabolism of Lemna minor: a targeted metabonomic study.

Metabolomics : Official journal of the Metabolomic Society
2026

Metabolomic profiling in phenylketonuria: a systematic review of human studies.

Metabolomics : Official journal of the Metabolomic Society
2026

A novel triaptosis-related prognostic signature to assess the clinical value in HER2-low breast cancer: evidence from clinical cohorts and experimental validation.

Apoptosis : an international journal on programmed cell death
2026

The clinical value of [18F]-fluoro-ethyl-L-tyrosine PET ([18F]FET-PET) correlated with MRI in patients with functioning pituitary adenomas: an observational cohort study.

Pituitary
2026

DDR2 ameliorates nonalcoholic hepatic steatosis by activating the AMPK/ACC pathway.

Scientific reports
2026

Targeting tRNA-dependent tyrosine usage unveils a metabolic vulnerability in hepatocellular carcinoma.

Nature communications
2026

Molecular and Epidemiological Insights into Oral Squamous Cell Carcinoma: Biomarker Profiling for Prognostic and Therapeutic Advancements.

Journal of the College of Physicians and Surgeons--Pakistan : JCPSP
2026

ET-1-induced CTGF expression is mediated by STAT3 activation through casein kinase 2α' and p300 but not casein kinase 2α in human lung fibroblasts.

European journal of pharmacology
2026

Interactions and communications in hepatocellular carcinoma: Potential targets for chemo/radiosensitization.

Pathology, research and practice
2026

Analysis of Large Language Model Decision Making in Hormone Receptor-Positive/Human Epidermal Growth Factor Receptor 2-Negative Early Breast Cancer.

JCO clinical cancer informatics
2026

The causal relationship and metabolic mediation between telomere length and intervertebral disc degeneration: A two-stage network Mendelian randomization study.

Medicine
2026

The expression of tyrosine kinase and threonine promotes the progression of lung adenocarcinoma and is linked to a negative prognosis.

Medicine
2026

Simultaneous quantification of lifitegrast and Rebamipide in hydrogel-based contact lenses using spectroscopic method.

International ophthalmology
2026

IL‑6: A key player in the EGFR‑TKI‑resistant tumor microenvironment and its therapeutic implications (Review).

International journal of oncology
2026

Framework-mediated binding of foreign and self-glycans by IGHV4-34 antibodies.

Frontiers in immunology
2026

Tailoring low-dose aspirin to prevent preeclampsia: translational and biomarker insights.

Frontiers in medicine
2026

Sex and Diet Biased Effect of L-DOPA on Iron Accumulation in the Ventral Midbrain.

Journal of neurochemistry
2026

Structure-Activity Studies of a Novel Opioid Cyclic Hexapeptide Modified at Gly3: Identification of Highly Potent Agonists or Antagonists of Opioid Receptors.

Journal of medicinal chemistry
2026

Matrix micro/nano-topography drives oncogenic signaling and drug response in a 3D osteosarcoma model.

Journal of nanobiotechnology
2026

A gut microbiome-kidney-heart axis predictive of future cardiovascular diseases.

Nature communications
2026

[Exploring the therapeutic targets and molecular mechanisms of pimecrolimus in the treatment of oral lichen planus based on network pharmacology, machine learning, and molecular docking].

Zhonghua kou qiang yi xue za zhi = Zhonghua kouqiang yixue zazhi = Chinese journal of stomatology
2026

Aptamer-Mediated Proximity Labeling (ApMPL) for Spatially Resolved Deciphering of Cell Membrane Protein Interactomes.

Analytical chemistry
2026

Src-family kinase control of CAR signaling: the paradoxical and multifaceted role of LCK.

Immunology letters
2026

Percutaneous hepatic perfusion combined with ipilimumab and nivolumab for metastatic uveal melanoma (CHOPIN): a single-centre, open-label, randomised, phase 2 trial.

The Lancet. Oncology
2026

Antigen-induced IL-12 potentiates piggyBac-engineered HER2-CAR-T cells against gastric cancer.

International immunopharmacology
2026

Biocontrol potential and mechanism of endophytic Bacillus velezensis WSR1 against rubber tree anthracnose.

Plant disease
2026

Conformation-Sensitive Active-Site Residue Tyrosine 260 in Paenibacillus macerans Cyclodextrin Glycosyltransferase Governs C13-Regioselective Glycosylation of Rebaudioside A.

Journal of agricultural and food chemistry
2026

Characterization of the TREM-1 signaling landscape in human neutrophils.

PloS one
2026

Metabolic and behavioral effects of neurofibromin result from differential recruitment of MAPK and mTOR signaling.

PLoS genetics
2026

Nivolumab plus ipilimumab for hepatocellular carcinoma: a game-changer?

Expert opinion on biological therapy
2026

Nintedanib enhances the antitumor efficacy of pd-1 blockade, potentially through inhibition of myeloid-derived suppressor cells and cancer-associated fibroblasts.

Cancer immunology, immunotherapy : CII
2026

Histidine and tyrosine residues are targets for SIRT6 ADP-ribosylation activity.

Open biology
2026

Mislocalisation of FLT3-ITD receptor contributes to MV4-11 leukaemia cell resistance to antibody-drug conjugate.

Journal of enzyme inhibition and medicinal chemistry
2026

Early-life adversity induces metabolic alterations in a rodent model of depression: a differential stress response perspective.

Acta neuropsychiatrica
2026

Case Report: Glofitamab in the treatment of a patient with central nervous system-involved Burkitt lymphoma.

Frontiers in oncology
2026

Stratified signaling network remodeling of kinase-transcription factors' interactions in Parkinson's disease.

Bioinformatics advances
2026

Advanced Parkinson's disease treatment patterns in Italy: results from a multicenter observational study.

Annals of medicine
2026

A Phase I Study to Evaluate the Safety, Tolerability, and Pharmacokinetics of Fenebrutinib and Effect on the QT/QTc Interval in Healthy Participants.

Clinical and translational science

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Doenças relacionadas

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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. Tyrosine Hydroxylase Deficiency Impairs TH Axonal Transport, Brain Function, and Neuronal Plasticity.
    Journal of inherited metabolic disease· 2026· PMID 41872043mais citado
  2. Oseltamivir aziridines are potent influenza neuraminidase inhibitors and imaging agents.
    Proceedings of the National Academy of Sciences of the United States of America· 2026· PMID 41871250mais citado
  3. Exploring SIK2-CXCL5 interactions in neutrophils: A novel mechanism for modulating IL-23 and psoriasis progression.
    Immunology and cell biology· 2026· PMID 41867147mais citado
  4. Python metabolomics uncovers a conserved postprandial metabolite and gut-brain feeding pathway.
    Nature metabolism· 2026· PMID 41857429mais citado
  5. Molecular and cellular consequences of tumour-autonomous IL-6 signalling in intrahepatic cholangiocarcinoma.
    Gut· 2026· PMID 41856523mais citado
  6. In silico designing of palbociclib loaded PLGA long-acting intramuscular injection for palliative therapy of HR+/HER2- metastatic breast cancer.
    J Pharm Pharmacol· 2026· PMID 41871123recente
  7. Lipid-Engineered Small-Sized Metal-Organic Frameworks for Targeted Delivery of Anlotinib in Lung Cancer Treatment.
    Int J Nanomedicine· 2026· PMID 41869413recente
  8. The ammonia transporter gene family and its immune regulatory role in the Pacific oyster (Crassostrea gigas).
    Fish Shellfish Immunol· 2026· PMID 41861978recente
  9. Micro-nanoplastics induce the physiological toxicity and metabolic disorder of Bacillus cereus DFH-1.
    Aquat Toxicol· 2026· PMID 41861664recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:79190(Orphanet)
  2. MONDO:0019235(MONDO)
  3. GARD:18964(GARD (NIH))
  4. Variantes catalogadas(ClinVar)
  5. Q55788556(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 fenilalanina ou tirosina

ORPHA:79190 · MONDO:0019235
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C0268482
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