Raras
Buscar doenças, sintomas, genes...
Doença do metabolismo da tiamina
ORPHA:298644DOENÇA RARA

A riboflavina (lactoflavina ou vitamina B2; designada no passado também por vitamina G; nome sistemático 7,8 - dimetil-10-(D-1'-ribitil)-isoaloxazina) é um composto orgânico (flavina) da classe das vitaminas. No organismo humano, favorece o metabolismo das gorduras, açúcares e proteínas e é importante para a saúde dos olhos, pele, boca e cabelos.

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Introdução

O que você precisa saber de cara

📋

Doença rara do metabolismo e transporte da tiamina, com manifestações cardíacas (taquicardia, insuficiência), neurológicas (parestesia) e oculares (hipoplasia da fóvea, distrofia retiniana). Pode cursar com anemia megaloblástica, diarreia e anorexia. Herança autossômica dominante ou recessiva.

Escala de raridade

CLASSIFICAÇÃO ORPHANET · BRASIL 2024
Unknown
Ultra-rara
<1/50k
Muito rara
1/20k
Rara
1/10k
Pouco freq.
1/5k
Incomum
1/2k
Prevalência
0.0
Worldwide
Início
Infancy
+ neonatal
🏥
SUS: Cobertura mínimaScore: 20%
Centros em: PA, PR, SC, RS, ES +8
Você se identifica com essa condição?
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Sinais e sintomas

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

Partes do corpo afetadas

🧠
Neurológico
31 sintomas
❤️
Coração
9 sintomas
💪
Músculos
9 sintomas
👁️
Olhos
6 sintomas
🫃
Digestivo
5 sintomas
😀
Face
5 sintomas

+ 64 sintomas em outras categorias

Características mais comuns

Hipoplasia da fóvea
Taquicardia atrial paroxística
Insuficiência cardíaca congestiva
Palidez
Diarreia
Parada cardíaca
144sintomas
Sem dados (144)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 144 características clínicas mais associadas, ordenadas por frequência.

Hipoplasia da fóveaHypoplasia of the fovea
Taquicardia atrial paroxísticaParoxysmal atrial tachycardia
Insuficiência cardíaca congestivaCongestive heart failure
PalidezPallor
DiarreiaDiarrhea

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2026
Últimos 10 anos128publicações
Pico201617 papers
Linha do tempo
2026Hoje · 2026📈 2016Ano de pico🧪 2022Primeiro ensaio clínico
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

4 genes identificados com associação a esta condição. Padrão de herança: Autosomal dominant, Autosomal recessive.

SLC19A3Thiamine transporter 2Disease-causing germline mutation(s) inTolerante
FUNÇÃO

Mediates high affinity thiamine uptake, probably via a proton anti-port mechanism (PubMed:11731220, PubMed:33008889, PubMed:35512554, PubMed:35724964). Has no folate transport activity (PubMed:11731220). Mediates H(+)-dependent pyridoxine transport (PubMed:33008889, PubMed:35512554, PubMed:35724964, PubMed:36456177)

LOCALIZAÇÃO

Membrane

VIAS BIOLÓGICAS (1)
Vitamin B1 (thiamin) metabolism
MECANISMO DE DOENÇA

Basal ganglia disease, biotin-thiamine responsive

An autosomal recessive metabolic disorder characterized by episodic encephalopathy, often triggered by febrile illness, presenting as confusion, seizures, external ophthalmoplegia, dysphagia, and sometimes coma and death. If untreated, encephalopathies can result in permanent dystonia. Brain imaging may show characteristic bilateral lesions of the basal ganglia.

EXPRESSÃO TECIDUAL(Ubíquo)
Tecido adiposo
62.5 TPM
Adipose Visceral Omentum
43.5 TPM
Mama
25.4 TPM
Fígado
8.4 TPM
Pulmão
7.4 TPM
INTERAÇÕES PROTEICAS (4)
OUTRAS DOENÇAS (2)
biotin-responsive basal ganglia diseaseinfantile spams-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome
HGNC:16266UniProt:Q9BZV2
SLC19A2Thiamine transporter 1Disease-causing germline mutation(s) inTolerante
FUNÇÃO

High-affinity transporter for the intake of thiamine (PubMed:10391222, PubMed:10542220, PubMed:21836059, PubMed:33008889, PubMed:35512554, PubMed:35724964). Mediates H(+)-dependent pyridoxine transport (PubMed:33008889, PubMed:35512554, PubMed:35724964)

LOCALIZAÇÃO

Cell membrane

VIAS BIOLÓGICAS (1)
Vitamin B1 (thiamin) metabolism
MECANISMO DE DOENÇA

Thiamine-responsive megaloblastic anemia syndrome

An autosomal recessive disease characterized by megaloblastic anemia, diabetes mellitus, and sensorineural deafness. Onset is typically between infancy and adolescence, but all of the cardinal findings are often not present initially. The anemia, and sometimes the diabetes, improves with high doses of thiamine. Other more variable features include optic atrophy, congenital heart defects, short stature, and stroke.

EXPRESSÃO TECIDUAL(Ubíquo)
Músculo esquelético
88.1 TPM
Adipose Visceral Omentum
47.8 TPM
Fallopian Tube
44.6 TPM
Ovário
34.2 TPM
Mama
33.0 TPM
INTERAÇÕES PROTEICAS (3)
OUTRAS DOENÇAS (1)
thiamine-responsive megaloblastic anemia syndrome
HGNC:10938UniProt:O60779
SLC25A19Mitochondrial thiamine pyrophosphate carrierDisease-causing germline mutation(s) inTolerante
FUNÇÃO

Mitochondrial transporter mediating uptake of thiamine diphosphate into mitochondria. It is not clear if the antiporter activity is affected by the membrane potential or by the proton electrochemical gradient

LOCALIZAÇÃO

Mitochondrion membrane

VIAS BIOLÓGICAS (1)
Vitamin B1 (thiamin) metabolism
MECANISMO DE DOENÇA

Microcephaly, Amish type

A disorder characterized by severe congenital microcephaly and severe 2-ketoglutaric aciduria leading to death within the first year.

EXPRESSÃO TECIDUAL(Ubíquo)
Testículo
26.8 TPM
Linfócitos
24.0 TPM
Glândula adrenal
9.3 TPM
Baço
9.1 TPM
Nervo tibial
8.8 TPM
OUTRAS DOENÇAS (2)
Amish lethal microcephalyprogressive demyelinating neuropathy with bilateral striatal necrosis
HGNC:14409UniProt:Q9HC21
TPK1Thiamine pyrophosphokinase 1Disease-causing germline mutation(s) inTolerante
FUNÇÃO

Catalyzes the phosphorylation of thiamine to thiamine pyrophosphate (TPP) utilizing UTP and therefore links the biosynthesis of TPP to pyrimidines metabolism (PubMed:38547260). By producing thiamine pyrophosphate, a cofactor of the mitochondrial pyruvate dehydrogenase indirectly regulates pyruvate oxidation and lipogenesis (PubMed:38547260). Although it can also catalyze thiamine phosphorylation using ATP and CTP in vitro, it does so with significantly lower efficiency and without physiological

LOCALIZAÇÃO

VIAS BIOLÓGICAS (1)
Vitamin B1 (thiamin) metabolism
MECANISMO DE DOENÇA

Thiamine metabolism dysfunction syndrome 5, episodic encephalopathy type

An autosomal recessive metabolic disorder due to an inborn error of thiamine metabolism. The phenotype is highly variable, but in general, affected individuals have onset in early childhood of acute encephalopathic episodes associated with increased serum and CSF lactate. These episodes result in progressive neurologic dysfunction manifest as gait disturbances, ataxia, dystonia, and spasticity, which in some cases may result in loss of ability to walk. Cognitive function is usually preserved, although mildly delayed development has been reported. These episodes are usually associated with infection and metabolic decompensation. Some patients may have recovery of some neurologic deficits.

EXPRESSÃO TECIDUAL(Ubíquo)
Testículo
8.6 TPM
Baço
6.8 TPM
Linfócitos
6.6 TPM
Nervo tibial
6.0 TPM
Aorta
5.8 TPM
OUTRAS DOENÇAS (1)
childhood encephalopathy due to thiamine pyrophosphokinase deficiency
HGNC:17358UniProt:Q9H3S4

Variantes genéticas (ClinVar)

340 variantes patogênicas registradas no ClinVar.

🧬 SLC19A3: NM_025243.4(SLC19A3):c.236_237delinsTT (p.Tyr79Phe) ()
🧬 SLC19A3: NM_025243.4(SLC19A3):c.149del (p.Glu50fs) ()
🧬 SLC19A3: NM_025243.4(SLC19A3):c.151-1G>A ()
🧬 SLC19A3: GRCh37/hg19 2q33.3-37.3(chr2:206965837-242783384)x3 ()
🧬 SLC19A3: NM_025243.4(SLC19A3):c.958G>T (p.Glu320Ter) ()
Ver todas no ClinVar

Vias biológicas (Reactome)

1 via biológica associada aos genes desta condição.

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-clínico1
Medicamentos catalogadosEnsaios clínicos· 0 medicamentos · 1 ensaio
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 tiamina

Centros de Referência SUS

21 centros habilitados pelo SUS para Doença do metabolismo da tiamina

Centros para Doença do metabolismo da tiamina

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.

Pesquisa ativa

Ensaios clínicos abertos e novidades científicas recentes

Pesquisa e ensaios clínicos

0 ensaios clínicos encontrados.

Distribuição por fase
Ver todos no ClinicalTrials.gov
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Publicações mais relevantes

🥉Melhor nível de evidência: Relato de caso
Timeline de publicações
0 papers (10 anos)
#1

Genetic dissection of stool frequency implicates vitamin B1 metabolism and other actionable pathways in the modulation of gut motility.

Gut2026 Jan 20

Genetic studies of stool frequency (SF), an indirect proxy for gastrointestinal transit, may reveal therapeutically tractable pathways relevant to IBS and other dysmotility disorders. To identify genes and mechanisms involved in gut motility, providing a foundation for clinical translation. We performed a multiancestry genome-wide association study (GWAS) meta-analysis of SF in 268 606 European and East Asian individuals. Heritability and genetic correlations with other traits were estimated, and Mendelian randomisation was used to test causal relationships. GWAS signals were fine-mapped and functionally annotated to prioritise candidate genes and pathways. Findings implicating thiamine metabolism were followed-up with dietary interaction analyses in UK Biobank (UKB). SF heritability was comparable in Europeans (7.0%) and East Asians (5.6%). We observed strong genetic correlations with gastrointestinal and psychiatric disorders (rg=0.18-0.47), and causal effects on IBS. Novel correlations with cardiovascular traits (rg=0.12-0.14) were supported by drug signature enrichment analyses. We identified 21 independent loci, including 10 novel signals implicating bile acid synthesis (KLB) and cholinergic signalling (COLQ). Fine-mapping converged on vitamin B1 metabolism, highlighting single-variant causal effects at SLC35F3 (a thiamine transporter) and XPR1 (phosphate exporter essential for thiamine activation). In 98 449 UKB participants, thiamine intake was positively associated with SF (p<0.0001), and a combined SLC35F3/XPR1 genotype score significantly modulated this effect (p<0.0001). We identify therapeutically tractable mechanisms involved in the control of gut motility, including a previously unrecognised role for vitamin B1. These findings warrant mechanistic and clinical studies to evaluate their translational potential in IBS and other dysmotility syndromes.

#2

Adverse events associated with drug-related thiamine deficiency: A pharmacovigilance study.

JPEN. Journal of parenteral and enteral nutrition2026 Mar 21

Thiamine deficiency can cause severe complications, including beriberi, Wernicke's encephalopathy, and Korsakoff syndrome, potentially leading to irreversible neurological damage or death. While causes such as chronic alcohol use disorder are established, drug-induced thiamine deficiency represents a potential risk that is often overlooked. However, systematic data on this association remain limited. We utilized relevant preferred terms from the Medical Dictionary for Regulatory Activities to identify adverse events in the United States Food and Drug Administration Adverse Event Reporting System from 2004 through 2024. Signal detection was performed using four algorithms: the reporting odds ratio, the proportional reporting ratio, the information component, and the empirical Bayes geometric mean. We identified 1,046 cases of thiamine deficiency, showing an increasing trend. Hospitalization was reported in 46.0% of cases. The median patient age was 55.0 years (interquartile range: 41.0-68.0), and 42.5% were female. Healthcare professionals submitted 81.5% of reports, and the United States contributed the largest share (27.8%). The five agents most frequently reported were furosemide, metformin, fedratinib, metronidazole, and fluorouracil. Overall, 38 drugs demonstrated consistently positive safety signals across all four methods. Additional drugs exhibiting notable signals included arsenic trioxide, torasemide, rabeprazole, and hydrochlorothiazide. This pharmacovigilance analysis identifies safety signals linking specific medications with thiamine deficiency, potentially mediated by mechanisms such as transport inhibition and metabolic interference. These findings highlight the importance of clinical vigilance and the consideration of thiamine monitoring in high-risk patients to mitigate the risk of neurological complications.

#3

Thiamine (Vitamin B1) metabolism in schistosomes.

Biochimie2026 Mar 11

Schistosomes are intravascular parasitic flatworms that acquire all nutrients necessary for their survival from blood. Here we focus on how the parasites acquire and metabolize an essential nutrient - vitamin B1 (thiamine). Live adult male and female Schistosoma mansoni parasites cleave exogenous thiamine monophosphate (ThMP) and thiamine pyrophosphate (ThPP) to generate free thiamine. Of the three characterized nucleotide-metabolizing ectoenzymes expressed at the schistosome surface (SmAP, SmNPP5, and SmATPDase1), only SmAP hydrolyzes these metabolites. Parasites whose SmAP gene is suppressed by RNAi are significantly impaired in their ability to cleave ThMP, but not ThPP, compared to controls. We conclude therefore that while SmAP can cleave ThMP alone, additional (uncharacterized) ectoenzyme(s) also cleave ThPP. When schistosomes are incubated in murine plasma, levels of both thiamine and phosphate increase over time, a finding consistent with these data. Generating a pool of free thiamine around the worms should permit the convenient uptake of this vital metabolite. However, we were unable to identify homologs in schistosomes of thiamine transporter proteins described in other systems. Instead, a ThPP transporter homolog was identified in silico (SmThPPT). Additionally, a schistosome mitochondrial ThPP transporter homolog is described that likely moves some imported ThPP from the cytoplasm into worm mitochondria. Finally, we report on a thiamine pyrophosphokinase homolog (SmTPK) that could pyrophosphorylate thiamine to make ThPP. Free thiamine generated outside the worms, if not imported (and since it is anti-inflammatory), could act in an immunomodulatory capacity to help generate a more benign external environment for the worms in the bloodstream.

#4

Thiamine Metabolism in Microbes and Strategies for Biomanufacturing.

Journal of agricultural and food chemistry2026 Feb 18

Thiamine (Vitamin B1), an essential water-soluble vitamin, is composed of a pyrimidine and a thiazole ring. Owing to its functional roles as a coenzyme and its anti-inflammatory and antioxidant properties, it plays a critical role in disease prevention and therapeutic interventions. Currently, industrial production of thiamine relies primarily on chemical synthesis-a process that generates significant amounts of hazardous waste and byproducts. In contrast, microbial biosynthesis represents a more sustainable and environmentally friendly alternative. This review first outlines thiamine metabolism in microorganisms, highlighting ThiC as the key rate-limiting enzyme in its biosynthesis. It then summarizes potential strategies for improving thiamine biomanufacturing, and proposes that optimizing metabolic flux together with energy and cofactor balance at critical nodal points is essential for overcoming current yield limitations. Finally, to overcome specific bottlenecks in thiamine biosynthesis, such as precursor transport and pathway optimization, we propose that transport engineering and gene mining represent promising strategies complementary to recent advances in enzyme-directed evolution and metabolic engineering.

#5

Vitamin A acts as a potent suppressor of selenoprotein P with potential relevance for multivitamin supplementation.

The Journal of nutritional biochemistry2026 Feb

Multivitamin supplementation is a widely used strategy to prevent disease, slow the ageing process, improve quality of life and extend life span, although recent clinical findings do not support these claims. Since selenium (Se) deficiency is associated with morbidity and mortality risk, we tested the hypothesis that certain vitamins interfere with the regular biosynthesis of the Se transporter selenoprotein P (SELENOP). Human liver cancer cells (HepG2) were treated with different concentrations of folic acid, nicotinamide, nicotinic acid, pyridoxal phosphate, thiamine, vitamin A, vitamin C, vitamin D2, vitamin D3, vitamin E, vitamin K and vitamin B12. Secreted SELENOP was quantified by ELISA and characterized by Western blot analysis. SELENOP transcript levels and promoter activity were determined, and resveratrol as a negative and thyroid hormone as a positive modulator were included for comparison. The concentration of extracellular SELENOP decreased twofold in response to micromolar concentrations of vitamin A. The SELENOP transcript concentration decreased to 70% after incubation with 1 µM vitamin A, and a moderate concomitant decrease in SELENOP core promoter activity was observed. Co-incubation experiments of vitamin A with the active thyroid hormone T3 revealed dose-dependent effects and suggested competitive activities of these two modifiers of SELENOP expression in opposite directions. We conclude that vitamin A is able to suppress hepatic SELENOP biosynthesis and secretion, which may confer health risks in self-administered or clinically indicated supplementation with retinoids, especially in individuals with marginal Se intake and status.

Publicações recentes

Ver todas no PubMed

📚 EuropePMCmostrando 128

2026

Adverse events associated with drug-related thiamine deficiency: A pharmacovigilance study.

JPEN. Journal of parenteral and enteral nutrition
2026

Thiamine (Vitamin B1) metabolism in schistosomes.

Biochimie
2026

Thiamine Metabolism in Microbes and Strategies for Biomanufacturing.

Journal of agricultural and food chemistry
2026

Genetic dissection of stool frequency implicates vitamin B1 metabolism and other actionable pathways in the modulation of gut motility.

Gut
2025

A Rare Familial Case of Pseudohypoparathyroidism Type 1b in Two Brothers Presenting With Recurrent Leg Cramps and Learning Difficulties.

Cureus
2025

Ameliorative Effects of Vitamin E and Lutein on Hydrogen Peroxide-Triggered Oxidative Cytotoxicity via Combined Transcriptome and Metabolome Analysis.

Cells
2026

Vitamin A acts as a potent suppressor of selenoprotein P with potential relevance for multivitamin supplementation.

The Journal of nutritional biochemistry
2025

Targeting mitochondrial transporters and metabolic reprogramming for disease treatment.

Journal of translational medicine
2025

Effect of henagliflozin on aging biomarkers in patients with type 2 diabetes: A multicenter, randomized, double-blind, placebo-controlled study.

Cell reports. Medicine
2025

Exploring neuropsychiatric manifestations of vitamin B complex deficiencies.

Frontiers in psychiatry
2025

Structure-based discovery of thiamine uptake inhibitors.

British journal of pharmacology
2025

Structures of Listeria monocytogenes MenD in ThDP-bound and in-crystallo captured intermediate I-bound forms.

Acta crystallographica. Section F, Structural biology communications
2025

Investigating prolactin-induced protein and its role in modulating the metabolic state of the keratoconus microenvironment.

Experimental eye research
2025

The role of SLC19A2 variants in the wide spectrum of non-autoimmune abnormalities of glucose homeostasis.

Diabetologia
2025

A Systems Hypothesis of Lipopolysaccharide-Induced Vitamin Transport Suppression and Metabolic Reprogramming in Autism Spectrum Disorders: An Open Call for Validation and Therapeutic Translation.

Metabolites
2026

Thiamin deficiency in children with chronic kidney disease on peritoneal dialysis and its association with dialysis duration and transport peritoneal membrane status.

Pediatric nephrology (Berlin, Germany)
2025

Metabolomic Profiling of Aqueous Humor From Glaucoma Patients Identifies Metabolites With Anti-Inflammatory and Neuroprotective Potential in Mice.

Investigative ophthalmology &amp; visual science
2025

Elevated thiamine level is associated with activating interaction between HIF-1α and SLC19A3 in experimental myopic guinea pigs.

Frontiers in medicine
2025

Thiamine, gastrointestinal beriberi and acetylcholine signaling.

Frontiers in nutrition
2025

Genetic Variants of the Human Thiamine Transporter (SLC19A3, THTR2)-Potential Relevance in Metabolic Diseases.

International journal of molecular sciences
2024

Combined Administration of Metformin and Amprolium to Rats Affects Metabolism of Free Amino Acids in the Brain, Altering Behavior, and Heart Rate.

Biochemistry. Biokhimiia
2025

Research on the Therapeutic Effect of Qizhu Anti Cancer Recipe on Colorectal Cancer Based on RNA Sequencing Analysis.

Combinatorial chemistry &amp; high throughput screening
2025

Thiamine-Responsive Megaloblastic Anemia Syndrome Mimicking Myelodysplastic Neoplasm.

Acta haematologica
2024

IQGAP-2: a novel interacting partner with the human colonic thiamin pyrophosphate transporter.

American journal of physiology. Cell physiology
2024

Structural basis of thiamine transport and drug recognition by SLC19A3.

Nature communications
2024

Bacterial lipopolysaccharide inhibits free thiamin uptake along the intestinal tract via interference with membrane expression of thiamin transporters 1 and 2.

American journal of physiology. Cell physiology
2024

Rare Diseases Linked to Mutations in Vitamin Transporters Expressed in the Human Blood-Brain Barrier.

Clinical pharmacology and therapeutics
2024

Phospholipid scrambling induced by an ion channel/metabolite transporter complex.

Nature communications
2025

Integration of network pharmacology, UHPLC-Q exactive orbitrap HRMS technique and metabolomics to elucidate the active ingredients and mechanisms of compound danshen pills in treating hypercholesterolemic rats.

Journal of ethnopharmacology
2024

Role of gut/liver metabolites and gut microbiota in liver fibrosis caused by cholestasis.

International immunopharmacology
2024

Exploring the Therapeutic Potential of Benfotiamine in a Sporadic Alzheimer's-Like Disease Rat Model: Insights into Insulin Signaling and Cognitive function.

ACS chemical neuroscience
2024

SLC25A19 is required for NADH homeostasis and mitochondrial respiration.

Free radical biology &amp; medicine
2024

Biotin Homeostasis and Human Disorders: Recent Findings and Perspectives.

International journal of molecular sciences
2024

Pan-Genome Analysis of Wolbachia, Endosymbiont of Diaphorina citri, Reveals Independent Origin in Asia and North America.

International journal of molecular sciences
2023

Vitamin B1 deficiency leads to high oxidative stress and mtDNA depletion caused by SLC19A3 mutation in consanguineous family with Leigh syndrome.

Metabolic brain disease
2023

Goldenseal-Mediated Inhibition of Intestinal Uptake Transporters Decreases Metformin Systemic Exposure in Mice.

Drug metabolism and disposition: the biological fate of chemicals
2023

Improvement effect of biochar on soil microbial community structure and metabolites of decline disease bayberry.

Frontiers in microbiology
2023

Acute Encephalopathy Caused by Inherited Metabolic Diseases.

Journal of clinical medicine
2023

The Influence of Alcohol Consumption on Intestinal Nutrient Absorption: A Comprehensive Review.

Nutrients
2023

Integrated analysis of metabolomic and transcriptomic profiling reveals the effect of Buyang Huanwu decoction on Parkinson's disease in mice.

Phytomedicine : international journal of phytotherapy and phytopharmacology
2022

Beyond the caudate nucleus: Early atypical neuroimaging findings in biotin-thiamine- responsive basal ganglia disease.

Brain &amp; development
2024

Case report: biotin-thiamine-responsive basal ganglia disease with severe subdural hematoma on magnetic resonance imaging.

The International journal of neuroscience
2022

Alzheimer's disease is associated with disruption in thiamin transport physiology: A potential role for neuroinflammation.

Neurobiology of disease
2022

Biotin-Responsive Basal Ganglia Disease: Treatable Metabolic Disorder with SLC19A3 Mutation Presenting as Rapidly Progressive Dementia.

Neurology India
2022

Genes Differentially Expressed by Haemophilus ducreyi during Anaerobic Growth Significantly Overlap Those Differentially Expressed during Experimental Infection of Human Volunteers.

Journal of bacteriology
2022

Mitochondrial transport and metabolism of the vitamin B-derived cofactors thiamine pyrophosphate, coenzyme A, FAD and NAD+ , and related diseases: A review.

IUBMB life
2022

Clinical and genetic studies of thiamine metabolism dysfunction syndrome-4: case series and review of the literature.

Clinical dysmorphology
2022

Biotin-thiamine-responsive basal ganglia disease: A case report.

Radiology case reports
2022

Biotin-thiamine responsive basal ganglia disease in the era of COVID-19 outbreak diagnosis not to be missed: A case report.

Brain &amp; development
2022

SLC gene mutations and pediatric neurological disorders: diverse clinical phenotypes in a Saudi Arabian population.

Human genetics
2021

Early treatment of biotin-thiamine-responsive basal ganglia disease improves the prognosis.

Molecular genetics and metabolism reports
2021

Identification and functional analysis of novel SLC25A19 variants causing thiamine metabolism dysfunction syndrome 4.

Orphanet journal of rare diseases
2021

CPEB alteration and aberrant transcriptome-polyadenylation lead to a treatable SLC19A3 deficiency in Huntington's disease.

Science translational medicine
2021

The Effects of Genetic Mutations and Drugs on the Activity of the Thiamine Transporter, SLC19A2.

The AAPS journal
2020

Magnetic resonance imaging pattern recognition in childhood bilateral basal ganglia disorders.

Brain communications
2021

SLC25A19 deficiency and bilateral striatal necrosis with polyneuropathy: a new case and review of the literature.

Journal of pediatric endocrinology &amp; metabolism : JPEM
2021

Region-selective permeability of the blood-brain barrier to α-aminoisobutyric acid during thiamine deficiency and following its reversal.

Metabolic brain disease
2020

Fursultiamine Alleviates Choroidal Neovascularization by Suppressing Inflammation and Metabolic Reprogramming.

Investigative ophthalmology &amp; visual science
2021

Unusual case of biotin-thiamine responsive encephalopathy without basal ganglia involvement.

Pediatric radiology
2020

Eleven novel mutations and clinical characteristics in seven Chinese patients with thiamine metabolism dysfunction syndrome.

European journal of medical genetics
2020

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

Genes
2020

G6036A substitution in mitochondrial COX I gene compromises cytochrome c oxidase activity in thiamine responsive Leigh syndrome patients.

Journal of the neurological sciences
2020

Novel p.P298L SURF1 mutation in thiamine deficient Leigh syndrome patients compromises cytochrome c oxidase activity.

Mitochondrion
2019

Neonatal form of biotin-thiamine-responsive basal ganglia disease. Clues to diagnosis.

The Turkish journal of pediatrics
2020

Organic Cation Transporters in Health and Disease.

Pharmacological reviews
2020

Serum Metabolomics Reveals Personalized Metabolic Patterns for Macular Neovascular Disease Patient Stratification.

Journal of proteome research
2020

News and views in myalgic encephalomyelitis/chronic fatigue syndrome (ME/CFS): The role of co-morbidity and novel treatments.

Medical hypotheses
2019

Functional analysis of the third identified SLC25A19 mutation causative for the thiamine metabolism dysfunction syndrome 4.

Journal of human genetics
2019

Citreoviridin induces myocardial apoptosis through PPAR-γ-mTORC2-mediated autophagic pathway and the protective effect of thiamine and selenium.

Chemico-biological interactions
2021

Aggravated effects of coexisting marginal thiamine deficits and zinc excess on SN56 neuronal cells.

Nutritional neuroscience
2019

TRMA syndrome with a severe phenotype, cerebral infarction, and novel compound heterozygous SLC19A2 mutation: a case report.

BMC pediatrics
2019

Bilateral Striatal Necrosis with Polyneuropathy with a Novel SLC25A19 (Mitochondrial Thiamine Pyrophosphate Carrier OMIMI*606521) Mutation: Treatable Thiamine Metabolic Disorder-A Report of Two Indian Cases.

Neuropediatrics
2019

Thiamine deficiency affects glucose transport and β-oxidation in rats.

Journal of animal physiology and animal nutrition
2019

Whole exome sequencing identifies a new mutation in the SLC19A2 gene leading to thiamine-responsive megaloblastic anemia in an Egyptian family.

Molecular genetics &amp; genomic medicine
2019

Genetic defects of thiamine transport and metabolism: A review of clinical phenotypes, genetics, and functional studies.

Journal of inherited metabolic disease
2019

Neurological, Psychiatric, and Biochemical Aspects of Thiamine Deficiency in Children and Adults.

Frontiers in psychiatry
2019

Reduced Folate Carrier: an Entry Receptor for a Novel Feline Leukemia Virus Variant.

Journal of virology
2019

Effects of Chronic Voluntary Alcohol Drinking on Thiamine Concentrations, Endoplasmic Reticulum Stress, and Oxidative Stress in the Brain of Crossed High Alcohol Preferring Mice.

Neurotoxicity research
2019

Comprehensive proteomic and metabolomic profiling of mcr-1-mediated colistin resistance in Escherichia coli.

International journal of antimicrobial agents
2019

Symposium review: The importance of the ruminal epithelial barrier for a healthy and productive cow.

Journal of dairy science
2018

New molecular aspects in the mechanism of oromaxillofacial cleft prevention by B-vitamins.

Journal of cranio-maxillo-facial surgery : official publication of the European Association for Cranio-Maxillo-Facial Surgery
2018

Thiamine Responsive Megaloblastic Anaemia, Diabetes Mellitus and Sensorineural Hearing Loss in a Child.

Journal of the College of Physicians and Surgeons--Pakistan : JCPSP
2018

A Novel Mutation of SLC19A2 in a Chinese Zhuang Ethnic Family with Thiamine-Responsive Megaloblastic Anemia.

Cellular physiology and biochemistry : international journal of experimental cellular physiology, biochemistry, and pharmacology
2018

Organic cation transporter 1 (OCT1) modulates multiple cardiometabolic traits through effects on hepatic thiamine content.

PLoS biology
2018

PET Imaging Analysis of Vitamin B1 Kinetics with [11C]Thiamine and its Derivative [11C]Thiamine Tetrahydrofurfuryl Disulfide in Rats.

Molecular imaging and biology
2018

[Defect of thiamine transport and activation and related disease].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
2018

SLC19A3 related disorder: Treatment implication and clinical outcome of 2 new patients.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society
2017

Case 38-2017. A 20-Year-Old Woman with Seizures and Progressive Dystonia.

The New England journal of medicine
2018

Impairment of Thiamine Transport at the GUT-BBB-AXIS Contributes to Wernicke's Encephalopathy.

Molecular neurobiology
2018

Biotin Thiamin Responsive Basal Ganglia Disease in Siblings.

Indian journal of pediatrics
2017

Reduced activities of thiamine-dependent and cytochrome c oxidase enzymes in cerebral cortex of cattle affected by sulfur-induced polioencephalomalacia.

Canadian journal of veterinary research = Revue canadienne de recherche veterinaire
2017

Role of thiamine in Huntington's disease pathogenesis: In vitro studies.

Advances in clinical and experimental medicine : official organ Wroclaw Medical University
2018

SLC19A3 Gene Defects Sorting the Phenotype and Acronyms: Review.

Neuropediatrics
2017

Thiamine Acquisition Strategies Impact Metabolism and Competition in the Gut Microbe Bacteroides thetaiotaomicron.

mSystems
2018

Transketolase Activity but not Thiamine Membrane Transport Change in Response to Hyperglycaemia and Kidney Dysfunction.

Experimental and clinical endocrinology &amp; diabetes : official journal, German Society of Endocrinology [and] German Diabetes Association
2017

Therapies for mitochondrial diseases and current clinical trials.

Molecular genetics and metabolism
2017

Thiamine metabolism is critical for regulating correlated growth of dendrite arbors and neuronal somata.

Scientific reports
2017

Compound heterozygous SLC19A3 mutations further refine the critical promoter region for biotin-thiamine-responsive basal ganglia disease.

Cold Spring Harbor molecular case studies
2017

High-dose thiamine prevents brain lesions and prolongs survival of Slc19a3-deficient mice.

PloS one
2017

Alcohol and thiamine deficiency trigger differential mitochondrial transition pore opening mediating cellular death.

Apoptosis : an international journal on programmed cell death
2017

Biotin-thiamine responsive basal ganglia disease: Identification of a pyruvate peak on brain spectroscopy, novel mutation in SLC19A3, and calculation of prevalence based on allele frequencies from aggregated next-generation sequencing data.

American journal of medical genetics. Part A
2016

Treatable Inborn Errors of Metabolism Due to Membrane Vitamin Transporters Deficiency.

Seminars in pediatric neurology
2016

Biochemical Analyses of Cerebrospinal Fluid for the Diagnosis of Neurometabolic Conditions. What Can We Expect?

Seminars in pediatric neurology
2017

Treatment of rats with the JAK-2 inhibitor fedratinib does not lead to experimental Wernicke's encephalopathy.

Neuroscience letters
2016

Brain endothelial dysfunction following pyrithiamine induced thiamine deficiency in the rat.

Neurotoxicology
2016

Lyme disease spirochaete Borrelia burgdorferi does not require thiamin.

Nature microbiology
2016

Distinct metabolic network states manifest in the gene expression profiles of pediatric inflammatory bowel disease patients and controls.

Scientific reports
2016

Treatment of genetic defects of thiamine transport and metabolism.

Expert review of neurotherapeutics
2017

Thiamine Deficiency Increases Ca2+ Current and CaV1.2 L-type Ca2+ Channel Levels in Cerebellum Granular Neurons.

Cellular and molecular neurobiology
2016

VdThit, a Thiamine Transport Protein, Is Required for Pathogenicity of the Vascular Pathogen Verticillium dahliae.

Molecular plant-microbe interactions : MPMI
2016

Neurological Disorders Associated with Striatal Lesions: Classification and Diagnostic Approach.

Current neurology and neuroscience reports
2016

Inhibition of Intestinal Thiamin Transport in Rat Model of Sepsis.

Critical care medicine
2016

The compact genome of the plant pathogen Plasmodiophora brassicae is adapted to intracellular interactions with host Brassica spp.

BMC genomics
2016

Evaluation of Th1/Th2-Related Immune Response against Recombinant Proteins of Brucella abortus Infection in Mice.

Journal of microbiology and biotechnology
2016

Biotin and Thiamine Responsive Basal Ganglia Disease--A vital differential diagnosis in infants with severe encephalopathy.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society
2016

Novel SLC19A3 Promoter Deletion and Allelic Silencing in Biotin-Thiamine-Responsive Basal Ganglia Encephalopathy.

PloS one
2016

Identification of critical variants within SLC44A4, an ulcerative colitis susceptibility gene identified in a GWAS in north Indians.

Genes and immunity
2016

Variation in SLC19A3 and Protection From Microvascular Damage in Type 1 Diabetes.

Diabetes
2016

Free-thiamine is a potential biomarker of thiamine transporter-2 deficiency: a treatable cause of Leigh syndrome.

Brain : a journal of neurology
2015

Extensive Modulation of the Fecal Metagenome in Children With Crohn's Disease During Exclusive Enteral Nutrition.

The American journal of gastroenterology
2015

Endoplasmic Reticulum Stress and Ethanol Neurotoxicity.

Biomolecules
2015

Sudden infant death syndrome and abnormal metabolism of thiamin.

Medical hypotheses
2015

Chronic alcohol exposure affects pancreatic acinar mitochondrial thiamin pyrophosphate uptake: studies with mouse 266-6 cell line and primary cells.

American journal of physiology. Gastrointestinal and liver physiology
2016

Neuromyelitis optica spectrum disorders may be misdiagnosed as Wernicke's encephalopathy.

The International journal of neuroscience
2015

A Therapeutic Fast for Lymphoma Resulting in Wernicke Encephalopathy.

The Journal of emergency medicine
2015

Synthesis, characterization, and efficacy evaluation of a new anti-diabetic vanadyl(II) thiamine hydrochloride complex in streptozotocin-induced diabetic rats.

International journal of immunopathology and pharmacology
2015

Spatial cognitive deficits in an animal model of Wernicke-Korsakoff syndrome are related to changes in thalamic VDAC protein concentrations.

Neuroscience
2015

PKR downregulation prevents neurodegeneration and β-amyloid production in a thiamine-deficient model.

Cell death &amp; disease

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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. Genetic dissection of stool frequency implicates vitamin B1 metabolism and other actionable pathways in the modulation of gut motility.
    Gut· 2026· PMID 41558814mais citado
  2. Adverse events associated with drug-related thiamine deficiency: A pharmacovigilance study.
    JPEN. Journal of parenteral and enteral nutrition· 2026· PMID 41864862mais citado
  3. Thiamine (Vitamin B1) metabolism in schistosomes.
    Biochimie· 2026· PMID 41825753mais citado
  4. Thiamine Metabolism in Microbes and Strategies for Biomanufacturing.
    Journal of agricultural and food chemistry· 2026· PMID 41664455mais citado
  5. Vitamin A acts as a potent suppressor of selenoprotein P with potential relevance for multivitamin supplementation.
    The Journal of nutritional biochemistry· 2026· PMID 41106613mais citado
  6. A Rare Familial Case of Pseudohypoparathyroidism Type 1b in Two Brothers Presenting With Recurrent Leg Cramps and Learning Difficulties.
    Cureus· 2025· PMID 41555976recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:298644(Orphanet)
  2. MONDO:0017578(MONDO)
  3. GARD:21231(GARD (NIH))
  4. Variantes catalogadas(ClinVar)
  5. Busca completa no PubMed(PubMed)
  6. Q55787198(Wikidata)

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

Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar

Doença do metabolismo da tiamina
Compêndio · Raras BR

Doença do metabolismo da tiamina

ORPHA:298644 · MONDO:0017578
Prevalência
Unknown
Herança
Autosomal dominant, Autosomal recessive
Início
Infancy, Neonatal
Prevalência
0.0 (Worldwide)
MedGen
UMLS
C5681092
Testes
45 disponíveis
Wikidata
Evidência
🥉 Relato de caso
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