Raras
Buscar doenças, sintomas, genes...
Doença do metabolismo da piridoxina
ORPHA:79192CID-11 · 5C59.2DOENÇA RARA

Doença metabólica hereditária que tem como base a interrupção do processo metabólico da piridoxina.

Mantido por Agente Raras·Colaborar como especialista →

Introdução

O que você precisa saber de cara

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Doença metabólica hereditária que tem como base a interrupção do processo metabólico da piridoxina.

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SUS: Cobertura mínimaScore: 20%
Centros em: PA, PR, SC, RS, ES +8
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Entender a doença

Do básico ao detalhe, leia no seu ritmo

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Sinais e sintomas

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

Partes do corpo afetadas

🧠
Neurológico
29 sintomas
📏
Crescimento
5 sintomas
👁️
Olhos
3 sintomas
🫁
Pulmão
3 sintomas
❤️
Coração
2 sintomas
🩸
Sangue
2 sintomas

+ 35 sintomas em outras categorias

Características mais comuns

Anormalidade do metabolismo da arginina
EEG com descargas epileptiformes generalizadas
Crise mioclônica focal
Espasmo epiléptico
Cisterna magna aumentada
Mielinização atrasada do SNC
83sintomas
Sem dados (83)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 83 características clínicas mais associadas, ordenadas por frequência.

Anormalidade do metabolismo da argininaAbnormality of arginine metabolism
EEG com descargas epileptiformes generalizadasEEG with generalized epileptiform discharges
Crise mioclônica focalFocal myoclonic seizure
Espasmo epilépticoEpileptic spasm
Cisterna magna aumentadaEnlarged cisterna magna

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa5
Últimos 10 anos200publicações
Pico202562 papers
Linha do tempo
2021Hoje · 2026🧪 1989Primeiro ensaio clínico📈 2025Ano de pico
Publicações por ano (últimos 10 anos)

Encontrou um erro ou informação desatualizada? Sugira uma correção →

Genética e causas

O que está alterado no DNA e como passa nas famílias

Genes associados

3 genes identificados com associação a esta condição.

PNPOPyridoxine-5'-phosphate oxidaseDisease-causing germline mutation(s) inTolerante
FUNÇÃO

Catalyzes the oxidation of either pyridoxine 5'-phosphate (PNP) or pyridoxamine 5'-phosphate (PMP) into pyridoxal 5'-phosphate (PLP)

LOCALIZAÇÃO

VIAS BIOLÓGICAS (1)
Vitamin B6 activation to pyridoxal phosphate
MECANISMO DE DOENÇA

Pyridoxine-5'-phosphate oxidase deficiency

The main feature of neonatal epileptic encephalopathy is the onset within hours of birth of a severe seizure disorder that does not respond to anticonvulsant drugs and can be fatal. Seizures can cease with the administration of PLP, being resistant to treatment with pyridoxine,.

EXPRESSÃO TECIDUAL(Ubíquo)
Fígado
26.9 TPM
Linfócitos
25.9 TPM
Glândula adrenal
19.9 TPM
Tireoide
18.6 TPM
Fibroblastos
16.5 TPM
OUTRAS DOENÇAS (1)
pyridoxal phosphate-responsive seizures
HGNC:30260UniProt:Q9NVS9
PLPBPPyridoxal phosphate homeostasis proteinDisease-causing germline mutation(s) inTolerante
FUNÇÃO

Pyridoxal 5'-phosphate (PLP)-binding protein, which may be involved in intracellular homeostatic regulation of pyridoxal 5'-phosphate (PLP), the active form of vitamin B6

LOCALIZAÇÃO

MECANISMO DE DOENÇA

Epilepsy, early-onset, 1, vitamin B6-dependent

An autosomal recessive neurologic disorder characterized by seizures responsive to treatment with activated vitamin B6 and/or pyridoxine. Most patients show delayed psychomotor development, intellectual disability and learning disability. Seizures onset is in the first days or months of life.

INTERAÇÕES PROTEICAS (4)
OUTRAS DOENÇAS (2)
epilepsy, early-onset, vitamin B6-dependentpyridoxine-dependent epilepsy
HGNC:9457UniProt:O94903
ALDH7A1Alpha-aminoadipic semialdehyde dehydrogenaseDisease-causing germline mutation(s) inTolerante
FUNÇÃO

Aldehyde dehydrogenase enzyme that mediates important protective effects (PubMed:16491085, PubMed:20207735, PubMed:20554659, PubMed:21338592, PubMed:25554827, PubMed:31302938, PubMed:31652343, PubMed:38604394, PubMed:40233740). Protects cells from oxidative stress by metabolizing a number of lipid peroxidation-derived aldehydes (PubMed:16491085, PubMed:20207735, PubMed:21338592, PubMed:40233740). Involved in cellular defense against hyperosmotic stress by metabolizing betaine aldehyde to betaine

LOCALIZAÇÃO

MitochondrionCytoplasm, cytosolCell membraneGolgi apparatus membraneNucleus

VIAS BIOLÓGICAS (2)
Choline catabolismLysine catabolism
MECANISMO DE DOENÇA

Epilepsy, early-onset, 4, vitamin B6-dependent

An autosomal recessive neurologic disorder ocharacterized by a combination of various seizure types. It usually occurs in the first hours of life and is unresponsive to standard anticonvulsants, responding only to immediate administration of pyridoxine hydrochloride.

OUTRAS DOENÇAS (2)
pyridoxine-dependent epilepsy caused by ALDH7A1 mutantpyridoxine-dependent epilepsy
HGNC:877UniProt:P49419

Variantes genéticas (ClinVar)

518 variantes patogênicas registradas no ClinVar.

🧬 PNPO: NM_018129.4(PNPO):c.118_119del (p.Ser40fs) ()
🧬 PNPO: NM_018129.4(PNPO):c.412C>A (p.Arg138Ser) ()
🧬 PNPO: NM_018129.4(PNPO):c.*765G>T ()
🧬 PNPO: NM_018129.4(PNPO):c.637C>T (p.Pro213Ser) ()
🧬 PNPO: NM_018129.4(PNPO):c.481C>G (p.Arg161Gly) ()
Ver todas no ClinVar

Vias biológicas (Reactome)

3 vias biológicas associadas aos genes desta condição.

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
Pipeline regulatório — de medicamentos já aprovados a drogas em pesquisa exploratória.
Aprovado1
2Fase 21
·Pré-clínico3
Medicamentos catalogadosEnsaios clínicos· 0 medicamentos · 5 ensaios
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 piridoxina

Centros de Referência SUS

21 centros habilitados pelo SUS para Doença do metabolismo da piridoxina

Centros para Doença do metabolismo da piridoxina

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

🟢 Recrutando agora

3 pesquisas recrutando participantes. Converse com seu médico sobre a possibilidade de participar.

Outros ensaios clínicos

0 ensaios clínicos encontrados.

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

Timeline de publicações
0 papers (10 anos)
#1

Severe ethylene glycol toxicity leading to persistent kidney disease.

BMJ case reports2026 Mar 13

Ethylene glycol toxicity poses a significant global health challenge, especially in low-income countries where it contaminates cough syrups. While global incidence is under-reported compared with the USA, mortality rates are much higher. In the USA, toxicity typically results from accidental ingestion. We report a man in his late 70s with hypertension who presented after being found unresponsive following a seizure. Laboratory findings showed severe anion gap metabolic acidosis with elevated osmolar gap, elevated lactate, acute kidney injury and urinary calcium oxalate crystals. Serum ethanol was <10 mg/dL. Suspecting ethylene glycol ingestion, he received emergency treatment with fomepizole, thiamine, pyridoxine and haemodialysis. Ethylene glycol concentration was confirmed at 188 mg/dL (reference: 0 mg/dL) 3 days postadmission. At a 2-month follow-up, his serum creatinine remained elevated. This case emphasises the critical importance of early recognition and rapid intervention in ethylene glycol toxicity to prevent severe complications and reduce long-term renal damage.

#2

Gyrate atrophy of the choroid and retina: a tertiary center experience.

Orphanet journal of rare diseases2026 Feb 16

Gyrate atrophy of the choroid and retina (GACR) is a rare amino acid metabolism disorder. Night blindness, cataracts, vision loss, and impaired cognitive functions can be seen. An arginine-restricted diet, combined with pyridoxine, lysine, proline, or creatine supplementation, can be used in conjunction with treatments for ophthalmological findings. Patients followed by the Gazi University Faculty of Medicine, Department of Pediatric Metabolism and Nutrition, and Department of Ophthalmology who were genetically or biochemically diagnosed with GACR were included in the study. The patients' medical records were retrospectively reviewed between 2000 and 2023. Seven patients with a mean age of 18.08 ± 8.6 years and a mean age at diagnosis of 10.4 ± 5.6 years were included. The earliest diagnosed patient was 15 months old. All patients had high plasma ornithine levels at the time of diagnosis, and they were all started on an arginine-restricted diet. Ophthalmological treatments were decided on a patient-specific basis. GACR is easily recognizable, but there is still no consensus on treatment modalities. The patients primarily present with progressive ophthalmological findings. An arginine-restricted diet is combined with supplementation with pyridoxine, lysine, proline, or creatine to improve metabolic control. Ophthalmological treatments are mainly applied to reduce cystoid macular edema. Early diagnosis and early initiation of therapy should be aimed at patients, and a multidisciplinary approach should be demonstrated both in diagnosis and follow-up.

#3

Hepatocellular Carcinoma: A Critical Complication in Patients Treated with Pyridoxal Phosphate.

Neuropediatrics2026 Feb

Pyridoxal-5'-phosphate (PLP) is in most patients the effective treatment for pyridox(am)ine-5'-phosphate oxidase (PNPO) deficiency, a rare autosomal recessive cause of neonatal-onset developmental and epileptic encephalopathy. Although generally considered safe, long-term high-dose PLP exposure may have hepatotoxic effects, particularly in the absence of pharmaceutical-grade formulations.We report a series of four pediatric patients with vitamin B6-dependent epilepsy who received long-term PLP therapy. Two had genetically confirmed PNPO deficiency, and two were later diagnosed with ALDH7A1 deficiency. All received high-dose oral PLP, with frequent changes in formulation due to availability issues.Three of the four patients developed hepatocellular carcinoma after several years of PLP treatment; one developed fully reversible severe hepatotoxicity. The shared exposure to prolonged high-dose PLP across all affected patients, despite differing metabolic conditions, suggests a possible role for PLP toxicity independent of the underlying metabolic disorder. Known toxic mechanisms include mitochondrial dysfunction, Schiff base-mediated protein modification, and accumulation of reactive PLP degradation products. In two patients, the total PLP dose was successfully reduced by over 30% through increasing administration frequency, without loss of seizure control.These findings raise significant concerns about the long-term hepatic safety of oral PLP in patients with vitamin B6-dependent epilepsies. As intravenous PLP is unfeasable for lifelong therapy, there is an urgent need for standardized, high-quality PLP preparations and exploration of alternative delivery routes such as intranasal administration. Regular hepatic monitoring should be implemented in all patients receiving chronic PLP therapy.

#4

Untargeted Metabolomics for Diagnosis, Monitoring, and Understanding the Pathophysiology of Inherited Metabolic Disorders.

Journal of inherited metabolic disease2026 Jan

Inherited metabolic disorders (IMDs) encompass a diverse and expanding group of rare diseases caused by genetic disruptions mainly in metabolic enzymes and transporters. Clinical diagnosis of IMDs presents significant challenges due to phenotypic heterogeneity, nonspecific symptoms, and the limited scope of current targeted biochemical assays typically available. Recent advances in mass spectrometry-based untargeted metabolomics offer promising solutions to several of these challenges by simultaneous detection and relative quantification of thousands of metabolites, not relying on any prior hypotheses. With the expansion of genetic diagnostics via whole-exome and whole-genome sequencing, metabolic insights are often crucial for understanding the pathogenicity of genetic variants of unknown significance, often enabling a clear diagnosis for patients. This review details current applications of untargeted metabolomics in IMDs, including biomarker discovery and elucidation of previously unknown pathophysiological mechanisms. Successful examples of biomarker identification in well-studied IMDs, such as pyridoxine-dependent epilepsy and phenylketonuria, are highlighted to provide novel disease insights. Additionally, we address technical and interpretation challenges inherent to this methodology, particularly concerning metabolite identification, high-dimensional data complexity, and limited patient numbers. Emerging analytical technologies and data analysis approaches are highlighted that are poised to mitigate these challenges in the upcoming years. Finally, we provide an outlook on future directions, emphasizing the complementary roles of targeted and untargeted metabolomics and the prospects for the identification of new therapeutic targets as well as therapy monitoring for the clinical management of IMDs.

#5

Metabolic changes in root exudates of plants with different disease severity affect plant resistance by regulating the rhizosphere microbiome.

Pest management science2026 Feb

Root exudates play a critical role in plant-microorganism interactions. However, information on the metabolic change in root exudates of plants with different disease severities of bacterial wilt is limited. Here, we investigate the differential metabolic pathway and metabolites among root exudates secreted by the low-grade, moderately, and severely Ralstonia solanacearum-infected tobacco plants and healthy plants. Comparative analysis reveals a large divergence among metabolic profiles and rhizosphere microbial communities of the healthy plants and R. solanacearum-infected plants in terms of metabolic spectrum, community composition and diversity. The intensities of efetaal, 6-methylnicotinamide, proline, sinapinic acid, and syringic acid increase with increasing disease severity, which are chemoattractants of R. solanacearum and pathogen helpers Sphingobacterium and Stenotrophomonas, suggesting a potential role of metabolites in pathogen infection. Metabolites upregulated in R. solanacearum-infected plants inhibit the biofilm formation of antagonistic Bacillus amyloliquefaciens WH1. Metabolites elevated in healthy plants including N-acetyl-L-leucine, 3,3-dimethylglutaric acid, 4-ethylphenol, protocatechuic acid, pyridoxine, salicylic acid, trans-cinnamic acid, and tropine are chemoattractants of WH1, support cell growth and enhance biofilm formation and colonization of WH1. McpB and McpC3 are the major methyl-accepting chemotaxis proteins for salicylic acid and trans-cinnamic acid. Nutritional competition is present between WH1 and R. solanacearum. Root exudates regulate the rhizosphere microbiome and affect plant resistance. Metabolites upregulated in healthy plants recruit antagonistic bacteria to defend the plant from pathogen invasion. Metabolites upregulated in R. solanacearum-infected plants attract pathogens and their helpers, thus aggravating the disease. © 2025 Society of Chemical Industry.

Publicações recentes

Ver todas no PubMed

📚 EuropePMCmostrando 199

2026

Severe ethylene glycol toxicity leading to persistent kidney disease.

BMJ case reports
2026

A novel therapy for pyridoxine-dependent epilepsy due to biallelic pathogenic variants in ALDH7A1: secondary mitochondrial energy deficiency and improvements of neurodevelopmental outcomes on triheptanoin treatment.

Therapeutic advances in rare disease
2026

Antinuclear antibody (ANA) level and blood-profile in Oral lichen planus patients: A cross-sectional study.

Journal of cranio-maxillo-facial surgery : official publication of the European Association for Cranio-Maxillo-Facial Surgery
2026

Gyrate atrophy of the choroid and retina: a tertiary center experience.

Orphanet journal of rare diseases
2026

Clinical Approaches and Emerging Therapeutic Horizons in Primary Hyperoxaluria.

Journal of clinical medicine
2026

The neuropathological mechanisms underlying the inborn errors of lysine metabolism.

Neurobiology of disease
2026

Assessment of the nutritional status of Syrian refugee women in the lactation period.

Nutrition and health
2026

Gut microbiota response to Enterocytozoon bieneusi infection in wild rodents: enhanced vitamin B and K2 biosynthesis pathways.

BMC genomics
2026

Branched-chain amino acid transferase 2 (BCAT2) deficiency: A case series and systematic review.

Molecular genetics and metabolism reports
2026

B Vitamin Deficiencies and Associated Neuropathies.

Current nutrition reports
2026

Liver Transplantation in PNPO Deficiency: Management Challenges and Biological Lessons.

JIMD reports
2026

Current neonatal seizure classification and approach to the newborn with seizure.

Proceedings (Baylor University. Medical Center)
2026

Hippophae rhamnoides: Way to Ameliorate Depressive Augury by Cyanocobalamin.

Current drug discovery technologies
2026

Jinlida ameliorates diabetic kidney disease via gut microbiota-dependent production of pyridoxamine targeting renal AGEs/RAGE and TGF-β pathways.

Phytomedicine : international journal of phytotherapy and phytopharmacology
2026

β-caryophyllene mitigates metabolic dysfunction in the testes of gerbils perinatally exposed to BPA.

Reproductive toxicology (Elmsford, N.Y.)
2026

Structure-activity relationship of S-adenosylmethionine analogs as pharmacological chaperones for cystathionine beta-synthase-deficient homocystinuria.

International journal of biological macromolecules
2025

Acute vision loss associated with vincristine therapy in T cell lymphoma.

BMJ case reports
2026

Hepatocellular Carcinoma: A Critical Complication in Patients Treated with Pyridoxal Phosphate.

Neuropediatrics
2025

Vitamin B6 form produced by Lactobacillus induces metabolic disorder and suppresses multi-pathogenic bacteria.

Communications biology
2025

Pyridoxine-dependent early onset seizures associated with rare gene mutations: A case series.

JPMA. The Journal of the Pakistan Medical Association
2026

Untargeted Metabolomics for Diagnosis, Monitoring, and Understanding the Pathophysiology of Inherited Metabolic Disorders.

Journal of inherited metabolic disease
2025

Chromothriptic Translocation t(1;18): A Paradigm of Genomic Complexity in a Child with Normal Intellectual Development and Pyridoxine-Dependent Epilepsy.

Genes
2026

Homocystinuria: Advances in metabolic and molecular therapies targeting homocysteine pathways (Review).

Molecular medicine reports
2025

Cardiac Manifestations of Nutritional Deficiencies.

Cardiology in review
2025

Lysine α-ketoglutarate reductase as a therapeutic target for saccharopine pathway related diseases.

Frontiers in molecular neuroscience
2025

Will a "multivitamin" a day keep the "MASLD doctor" away?

Metabolism and target organ damage
2025

Targeting AASS alleviates neurotoxicity and improves mitochondrial function in astrocyte models for pyridoxine-dependent epilepsy.

Molecular therapy. Nucleic acids
2025

Is Vitamin B6 a Precision Therapy for Neonatal Seizures?

Neurology international
2025

Lactic acidosis, rhabdomyolysis, and hyperammonemia: Atypical presentation in a new patient with PDE-ALDH7A1 defect.

Molecular genetics and metabolism reports
2026

Metabolic changes in root exudates of plants with different disease severity affect plant resistance by regulating the rhizosphere microbiome.

Pest management science
2026

Vitamin B6 (Pyridoxal 5' Phosphate) antagonises carotid body P2X3 receptors in hypertension.

Cardiovascular research
2025

A Treatable Cause of Seizures and Hyperphosphatasia: Patients with PGAP2 and PGAP3 Mutations.

Molecular syndromology
2025

Bridging the gap: pyridoxine-dependent epilepsy (PDE-ALDH7A1) diagnosis and management in a low-resource setting.

Neurogenetics
2025

Targeted Microbial Shifts and Metabolite Profiles Were Associated with Clinical Response to an Anti-Inflammatory Diet in Osteoarthritis.

Nutrients
2025

Neonatal Refractory Seizures and Hyperammonemia in a Neonate With ALDH7A1 Deficiency.

Clinical case reports
2025

Exploring neuropsychiatric manifestations of vitamin B complex deficiencies.

Frontiers in psychiatry
2025

Video-EEG as a precision medicine tool in vitamin-dependent epilepsy: A clinical experience.

Epileptic disorders : international epilepsy journal with videotape
2025

Transcriptomics assisted by metabolomics analysis provides insights into regulation mechanisms during carcinogenic process in a hydrodynamically transfected liver cancer model.

Cancer cell international
2025

Advancing Neonatal Screening for Pyridoxine-Dependent Epilepsy-ALDH7A1 Through Combined Analysis of 2-OPP, 6-Oxo-Pipecolate and Pipecolate in a Butylated FIA-MS/MS Workflow.

International journal of neonatal screening
2025

Association between vitamin B6 status and liver fibrosis: evidence from NHANES 2005-2010.

Frontiers in nutrition
2025

Combination Therapy with Pyridoxine and Arginine Supplementations along with a Lysine-Restricted Diet in Individuals with Pyridoxine-Dependent Epilepsy: A Comprehensive Systematic Review.

Current developments in nutrition
2025

Novel Homozygous MTHFR Variant Causing Homocystinuria: Subtle Phenotypic Clues in Carriers.

AACE endocrinology and diabetes
2025

Effectiveness of Pyridoxal-5'-Phosphate in PNPO Deficiency: A Systematic Review.

Journal of inherited metabolic disease
2025

Two new cases of KYNU deficiency: Further delineation of the phenotypic and biochemical spectrum and exploration of treatment options.

Molecular genetics and metabolism
2025

Synthetic Metabolites Derived From Host-Exudates Modulate the Bacterial Wilt Occurrence.

Plant, cell &amp; environment
2025

Use of lysine reduction therapies in patients with pyridoxine dependent epilepsy due to Antiquitin deficiency - A cohort study.

Molecular genetics and metabolism
2025

Hypocupraemia-related drug-refractory seizures in Wilson disease.

Practical neurology
2025

Lumasiran at birth changes the trajectory of primary hyperoxaluria type 1: same disease, different outcomes in two affected siblings.

Journal of nephrology
2025

Comprehensive Review of L-Lysine: Chemistry, Occurrence, and Physiological Roles.

Current protein &amp; peptide science
2025

Neglected micronutrients-considering a broader set of vitamins and minerals in public health nutrition programs worldwide: a narrative review.

The American journal of clinical nutrition
2025

Vitamin B6 challenge as a tool for detecting ALPL mutations and diagnosing hypophosphatasia.

Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA
2025

Plasma Glycolate Levels Contribute to Drive the Decision of Isolated Kidney Transplantation in Dialyzed Patients with End-Stage Kidney Disease due to Primary Hyperoxaluria Type 1 Treated with Lumasiran: A Case Report.

Case reports in nephrology and dialysis
2025

Structure Elucidation for MALDI Mass Spectrometry Imaging Using Infrared Ion Spectroscopy.

Analytical chemistry
2025

Impact of azithromycin on specific biochemical markers and sebum composition in acne vulgaris patients.

Archives of dermatological research
2025

The Clinical and Biochemical Impact of the Multivitamin Shortage on Neonatal Patients.

Journal of investigative medicine high impact case reports
2025

Lyophilised reservoirs in combination with hydrogel-forming microarray patches for transdermal delivery of isoniazid and pyridoxine hydrochloride.

Biomaterials advances
2025

Targeting Lysine α-Ketoglutarate Reductase to Treat Pyridoxine-Dependent Epilepsy.

The Journal of neuroscience : the official journal of the Society for Neuroscience
2025

The disease-linked R336C mutation in cystathionine β-synthase disrupts communication with the PLP cofactor, yet maintains the enzyme's overall structural integrity.

The FEBS journal
2025

A study of Iraqi patients with homocysteine remethylation disorders in a tertiary pediatric centre.

Molecular genetics and metabolism reports
2025

Branched-chain amino acid transferase type 2 (BCAT2) deficiency: Report of an eighth case and literature review.

Molecular genetics and metabolism reports
2025

Can pyridoxine function as an anti-pyroptosis agent? A narrative review.

Inflammopharmacology
2025

Broad Vitamin B6-Related Metabolic Disturbances in a Zebrafish Model of Hypophosphatasia (TNSALP-Deficiency).

International journal of molecular sciences
2025

Pyridoxine exerts antioxidant effects on kidney injury manifestations in high-fat diet-induced obese rats.

Chemico-biological interactions
2025

The Role of Vitamin B Complex in Periodontal Disease: A Systematic Review Examining Supplementation Outcomes, Age Differences in Children and Adults, and Aesthetic Changes.

Nutrients
2025

The role of genetic testing in accurate diagnosis of X-linked sideroblastic anemia: novel ALAS2 mutations and the impact of X-chromosome inactivation.

Scientific reports
2025

Effectiveness and Safety of High-Dose Oral Phenobarbital in Children With Recurrent and Treatment-Refractory Seizures.

Clinical pediatrics
2025

Vitamin B6 deficiency produces metabolic alterations in Drosophila.

Metabolomics : Official journal of the Metabolomic Society
2025

Cystathionine β-Synthase Deficiency in the E-HOD Registry-Part II: Dietary and Pharmacological Treatment.

Journal of inherited metabolic disease
2025

Recent Advances on the Role of B Vitamins in Cancer Prevention and Progression.

International journal of molecular sciences
2025

Protective effects of pyridoxine, amlodipine, and their combination in a vasopressin-induced angina model in rats.

Naunyn-Schmiedeberg's archives of pharmacology
2025

Sideroblastic anemia in children: challenges in diagnosis and management in three cases.

Annals of hematology
2025

Dysregulation of astrocyte-derived matrix gla protein impairs dendritic spine development in pyridoxine-dependent epilepsy.

Molecular therapy : the journal of the American Society of Gene Therapy
2025

Inclusion of pyridoxine dependent epilepsy in expanded newborn screening programs by tandem mass spectrometry: set up of first and second tier tests.

Clinical chemistry and laboratory medicine
2025

Genotypic Spectrum in a Cohort of Sri Lankan Patients With Homocystinuria.

JIMD reports
2025

Plasma metabolome reveals altered oxidative stress, inflammation, and amino acid metabolism in dogs with idiopathic epilepsy.

Epilepsia
2024

Investigating the Impact of Selected B Vitamins (B1, B2, B6, and B12) on Acute Colitis Induced Experimentally in Rats.

International journal of preventive medicine
2025

Feasibility of newborn screening for pyridoxine-dependent epilepsy.

Molecular genetics and metabolism
2025

Determination of new biomarkers for diagnosis of pyridoxine dependent epilepsy in human plasma and urine by liquid chromatography-mass spectrometry.

Clinica chimica acta; international journal of clinical chemistry
2024

Pyridoxine supplementation before puberty ameliorates MAM-induced cognitive and sensorimotor gating impairments.

Metabolic brain disease
2024

Role of Vitamin B in Healthy Ageing and Disease.

Sub-cellular biochemistry
2024

Restricting lysine normalizes toxic catabolites associated with ALDH7A1 deficiency in cells and mice.

Cell reports
2025

An erythroid-specific lentiviral vector improves anemia and iron metabolism in a new model of XLSA.

Blood
2025

Parkinson's Disease: Unravelling the Medicinal Perspectives and Recent Developments of Heterocyclic Monoamine Oxidase-B Inhibitors.

CNS &amp; neurological disorders drug targets
2024

Pyridoxine-dependent epilepsy caused by an ALDH7A1 mutation in an infant girl: the first case report in Syria.

BMC neurology
2024

Sprayable inflammasome-inhibiting lipid nanorods in a polymeric scaffold for psoriasis therapy.

Nature communications
2024

[Phenotype of infantile epileptic spasm syndrome in pyridoxin-dependent epilepsy].

Beijing da xue xue bao. Yi xue ban = Journal of Peking University. Health sciences
2024

Case report: Early (molecular) diagnosis is the clue: report on ALDH7A1 deficiency in newborns.

Frontiers in genetics
2024

Fresh bamboo juice regulates the diversity of intestinal microflora in mice by promoting the function of ILC2 cells to mediate intestinal protection.

International immunopharmacology
2024

Management of Alzheimer's disease and related neurotoxic pathologies: Role of thiamine, pyridoxine and cobalamin.

European journal of pharmacology
2025

Mild/moderate phenotypes in AADC deficiency: Focus on the aromatic amino acid decarboxylase protein.

Journal of inherited metabolic disease
2024

Characteristics of isoniazid-induced psychosis: a systematic review of case reports and case series.

European journal of clinical pharmacology
2024

Mutation Characteristics of Primary Hyperoxaluria in the Chinese Population and Current International Diagnosis and Treatment Status.

Kidney diseases (Basel, Switzerland)
2024

Ocoxin Oral Solution Triggers DNA Damage and Cell Death in Ovarian Cancer.

Nutrients
2025

Challenges in Hypophosphatasia: Suspicion, Diagnosis, Genetics, Management, and Follow-Up.

Hormone research in paediatrics
2025

Assessment of urinary 6-oxo-pipecolic acid as a biomarker for ALDH7A1 deficiency.

Journal of inherited metabolic disease
2024

Circulating B vitamins metabolites in depressive disorders - connections with the microbiota-gut-brain axis.

Behavioural brain research
2024

Effects of different energy levels in low-protein diet on liver lipid metabolism in the late-phase laying hens through the gut-liver axis.

Journal of animal science and biotechnology
2024

Generation of hiPSC lines from four pyridoxine-dependent epilepsy (PDE) patients carrying the variant c.1279G>C in ALDH7A1 in homozygosis.

Stem cell research
2025

Delivery of exogenous miR-19b by Wharton's Jelly Mesenchymal Stem Cells attenuates transplanted kidney ischemia/reperfusion injury by regulating cellular metabolism.

Drug delivery and translational research
2024

Murine models of erythroid 5ALA synthesis disorders and their conditional synthetic lethal dependency on pyridoxine.

Blood
2024

[B vitamins and diseases of the peripheral nervous system].

Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova
2024

Komrower Memorial Lecture 2023. Molecular basis of phenotype expression in homocystinuria: Where are we 30 years later?

Journal of inherited metabolic disease
2024

7,8-Dihydroxyflavone is a direct inhibitor of human and murine pyridoxal phosphatase.

eLife
2024

Identifying Metabolic Diseases That Precipitate Neonatal Seizures.

Neonatal network : NN
2024

Dietary management for pyridoxine-dependent epilepsy due to α-aminoadipic semialdehyde dehydrogenase deficiency, a follow-on from the international consortium guidelines.

JIMD reports
2024

Seizures due to pyridoxine deficiency in Parkinson's disease.

Seizure
2024

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

Biochemistry. Biokhimiia
2024

Biochemical, structural, and computational analyses of two new clinically identified missense mutations of ALDH7A1.

Chemico-biological interactions
2024

Blocking proteinase-activated receptor 2 signaling relieves pain, suppresses nerve sprouting, improves tissue repair, and enhances analgesic effect of B vitamins in rats with Achilles tendon injury.

Pain
2024

Biochemical and structural impact of two novel missense mutations in cystathionine β-synthase gene associated with homocystinuria.

The Biochemical journal
2024

Pyridoxal 5'-Phosphate Biosynthesis by Pyridox-(am)-ine 5'-Phosphate Oxidase: Species-Specific Features.

International journal of molecular sciences
2024

Host metabolomic responses in recurrent P. vivax malaria.

Scientific reports
2024

Metabolic etiologies in children with infantile epileptic spasm syndrome: Experience at a tertiary pediatric neurology center.

Brain &amp; development
2024

Intake of B vitamins and the risk of developing islet autoimmunity and type 1 diabetes in the TEDDY study.

European journal of nutrition
2024

A Gadolinium(III) Complex Based on Pyridoxine Molecule with Single-Ion Magnet and Magnetic Resonance Imaging Properties.

International journal of molecular sciences
2024

Pyridoxine challenge reflects pediatric hypophosphatasia severity and thereby examines tissue-nonspecific alkaline phosphatase's role in vitamin B6 metabolism.

Bone
2024

Study on the mechanism of vitamin E alleviating non-alcoholic fatty liver function based on non-targeted metabolomics analysis in rats.

Naunyn-Schmiedeberg's archives of pharmacology
2023

Micronutrient Deficiency in Inherited Metabolic Disorders Requiring Diet Regimen: A Brief Critical Review.

International journal of molecular sciences
2023

Pyridoxine Deficiency and Neurologic Dysfunction: An Unlikely Association.

Cureus
2024

Prevalence estimate of sphingosine phosphate lyase insufficiency syndrome in worldwide and select populations.

Genetics in medicine open
2024

Ramen noodle neuropathy: an atypical case of partial paralysis from malnutrition.

The American journal of emergency medicine
2023

Decreased liver B vitamin-related enzymes as a metabolic hallmark of cancer cachexia.

Nature communications
2023

Lower levels of the neuroprotective tryptophan metabolite, kynurenic acid, in users of estrogen contraceptives.

Scientific reports
2023

Association of B vitamin intake and total homocysteine levels with all-cause and cause-specific mortality in central obesity.

Nutrition (Burbank, Los Angeles County, Calif.)
2023

The effectiveness of citrates and pyridoxine in the treatment of kidney stones.

Journal of medicine and life
2023

Treatment of seizures in the neonate: Guidelines and consensus-based recommendations-Special report from the ILAE Task Force on Neonatal Seizures.

Epilepsia
2023

Pearls & Oy-sters: Delayed Response to Pyridoxine in Pyridoxine-Dependent Epilepsy.

Neurology
2023

Generation of an induced pluripotent stem cell line carrying biallelic deletions (SCTCi019-B) in ALDH7A1 using CRISPR/Cas9.

Stem cell research
2023

Update current understanding of neurometabolic disorders related to lysine metabolism.

Epilepsy &amp; behavior : E&amp;B
2024

Natural history of urine and plasma oxalate in children with primary hyperoxaluria type 1.

Pediatric nephrology (Berlin, Germany)
2023

Recent advances in neurometabolic diseases: The genetic role in the modern era.

Epilepsy &amp; behavior : E&amp;B
2023

Is withdrawal of nocturnal hyperhydration possible in children with primary hyperoxaluria treated with RNAi?

Journal of nephrology
2023

Physiological Associations between Vitamin B Deficiency and Diabetic Kidney Disease.

Biomedicines
2023

A Non-targeted Metabolomics Reveals Therapeutical Effect and Mechanism of Sanmiao Pill on Adjuvant-induced Arthritis Rats.

Current pharmaceutical design
2023

Relationship Between Vitamins and Diabetes.

Cureus
2024

Nutritional Support System (NSS) as a New Therapeutic Strategy for Cerebral Palsy.

CNS &amp; neurological disorders drug targets
2023

Pyridoxine-dependent epilepsy: Current perspectives and questions for future research.

Annals of the Child Neurology Society
2023

New K50R mutant mouse models reveal impaired hypusination of eif5a2 with alterations in cell metabolite landscape.

Biology open
2023

Demand for Water-Soluble Vitamins in a Group of Patients with CKD versus Interventions and Supplementation-A Systematic Review.

Nutrients
2023

Untargeted, High-Resolution Metabolomics in Pediatric Eosinophilic Esophagitis.

Journal of pediatric gastroenterology and nutrition
2023

Biochemical and cellular effects of a novel missense mutation of the AGXT gene associated with Primary Hyperoxaluria Type 1.

Biochemical and biophysical research communications
2023

Hyperphosphatasia with mental retardation syndrome 3: Cerebrospinal fluid abnormalities and correction with pyridoxine and Folinic acid.

JIMD reports
2022

Preventing Vitamin B6-Related Neurotoxicity.

American journal of therapeutics
2023

Infantile Spasms without Hypsarrhythmia and Paroxysmal Eye-Head Movements in an Infant with a Pyridoxine-Dependent Epilepsy due to PLPBP/PLPHP Deficiency.

Neuropediatrics
2023

Chemical Modifications of Pyridoxine for Biological Applications: An Overview.

Current topics in medicinal chemistry
2023

Recent therapeutic approaches to cystathionine beta-synthase-deficient homocystinuria.

British journal of pharmacology
2022

Pyridoxine-dependent Epilepsy caused by a Novel homozygous mutation in PLPBP Gene.

Metabolic brain disease
2022

Simplifying the B Complex: How Vitamins B6 and B9 Modulate One Carbon Metabolism in Cancer and Beyond.

Metabolites
2022

Validated UPLC-MS/MS method for the analysis of vitamin B6 pyridoxal 5́-phosphate, pyridoxal, pyridoxine, pyridoxamine, and pyridoxic acid in human cerebrospinal fluid.

Journal of chromatography. B, Analytical technologies in the biomedical and life sciences
2023

Metabolomics analysis of antiquitin deficiency in cultured human cells and plasma: Relevance to pyridoxine-dependent epilepsy.

Journal of inherited metabolic disease
2022

Targeting the Diagnosis in an Adolescent with Epilepsy and Intellectual Disability through Next-Generation Metabolic Screening.

Clinical chemistry
2022

Nutrient patterns and non-alcoholic fatty liver disease in Iranian Adul: A case-control study.

Frontiers in nutrition
2022

Homocystinuria diagnosis and management: it is not all classical.

Journal of clinical pathology
2022

Association Between Lysine Reduction Therapies and Cognitive Outcomes in Patients With Pyridoxine-Dependent Epilepsy.

Neurology
2022

Case report: Fatal outcome of pyridoxine-dependent epilepsy presenting as respiratory distress followed by a circulatory collapse.

Frontiers in pediatrics
2022

CRISPR/Cas9-mediated knock-out of AGXT1 in HepG2 cells as a new in vitro model of Primary Hyperoxaluria Type 1.

Biochimie
2022

Refractory Seizures Secondary to Vitamin B6 Deficiency in Parkinson Disease: The Role of Carbidopa-Levodopa.

Case reports in neurology
2022

Hyperhomocysteinemia in acute hepatic porphyria (AHP) and implications for treatment with givosiran.

Expert review of gastroenterology &amp; hepatology
2022

A sensitive UPLC-MS/MS method for simultaneous quantification of one-carbon metabolites & co-factors in human plasma.

Journal of pharmaceutical and biomedical analysis
2023

A possible ocular biomarker for response to hyperornithinemia in gyrate atrophy: the effect of pyridoxine, lysine, and arginine-restricted diet in a patient with advanced disease.

Ophthalmic genetics
2022

Effect of vitamin B6 on pain, disease severity, and psychological profile of fibromyalgia patients; a randomized, double-blinded clinical trial.

BMC musculoskeletal disorders
2022

Pyridoxine-dependent epilepsy (PDE-ALDH7A1) in adulthood: A Dutch pilot study exploring clinical and patient-reported outcomes.

Molecular genetics and metabolism reports
2022

The Microbiota and It's Correlation With Metabolites in the Gut of Mice With Nonalcoholic Fatty Liver Disease.

Frontiers in cellular and infection microbiology
2022

A vitamin a day keeps the doctor away: The need for high quality pyridoxal-5'-phosphate.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society
2022

Pyridoxal Kinase of Disease-causing Human Parasites: Structural and Functional Insights to Understand its Role in Drug Discovery.

Current protein &amp; peptide science
2022

Comparative Study to Evaluate the Effect of Low-Protein Diet Supplementation with Taurine and N-Acetylcysteine, N-Acetylcysteine and Pyridoxamine Dihydrochloride in Preventing the Progression of Chronic Renal Failure in Patients with Non-Diabetic Kidney Disease.

The Journal of the Association of Physicians of India
2022

Primary hyperoxaluria type 1: novel therapies at a glance.

Clinical kidney journal
2022

Vitamin B6 Deficiency Anemia Attributed to Levodopa/Carbidopa Intestinal Gel Therapy for Parkinson's Disease: A Diagnostic Pitfall for Myelodysplastic Syndrome with Ring Sideroblasts.

Internal medicine (Tokyo, Japan)
2022

Nutrition interventions in congenital disorders of glycosylation.

Trends in molecular medicine
2022

Clinical Reasoning: Pediatric Seizures of Unknown Cause.

Neurology
2022

ESPEN micronutrient guideline.

Clinical nutrition (Edinburgh, Scotland)
2021

Clinical, Biochemical, Radiological, and Genetic Profile of Patients with Homocysteine Remethylation Pathway Defect and Spastic Paraplegia.

Annals of Indian Academy of Neurology
2022

Status Epilepticus due to Asfotase Alfa Interruption in Perinatal Severe Hypophosphatasia.

Pediatric neurology
2022

Timing of therapy and neurodevelopmental outcomes in 18 families with pyridoxine-dependent epilepsy.

Molecular genetics and metabolism
2022

A case for newborn screening for pyridoxine-dependent epilepsy.

Cold Spring Harbor molecular case studies
2022

Pyridoxine or pyridoxal-5-phosphate treatment for seizures in glycosylphosphatidylinositol deficiency: A cohort study.

Developmental medicine and child neurology
2021

Pyridoxine-Dependent Epilepsy and Antiquitin Deficiency Resulting in Neonatal-Onset Refractory Seizures.

Brain sciences
2021

Metabolic Therapy of Heart Failure: Is There a Future for B Vitamins?

International journal of molecular sciences
2022

Hypoventilation and progressive encephalopathy in a neonate with MTHFR deficiency.

BMJ case reports
2021

Nutrients to Improve Mitochondrial Function to Reduce Brain Energy Deficit and Oxidative Stress in Migraine.

Nutrients
2022

Identification of three novel pathogenic mutations in cystathionine beta-synthase gene of Pakistani intellectually disabled patients.

Journal of pediatric endocrinology &amp; metabolism : JPEM
2021

Primary Hyperoxaluria Type 1 (PH1) Presenting With End-Stage Kidney Disease and Cutaneous Manifestations in Adulthood: A Case Report.

Canadian journal of kidney health and disease
2022

Transcriptomics integrated with metabolomics reveals the effect of Bisphenol F (BPF) exposure on intestinal inflammation.

The Science of the total environment
2021

Characterization of Novel Pathogenic Variants Causing Pyridox(am)ine 5'-Phosphate Oxidase-Dependent Epilepsy.

International journal of molecular sciences
2021

B Vitamins Supplementation Can Improve Cognitive Functions and May Relate to the Enhancement of Transketolase Activity in A Rat Model of Cognitive Impairment Associated with High-fat Diets.

Current medical science
2021

Rescue of Glycosylphosphatidylinositol-Anchored Protein Biosynthesis Using Synthetic Glycosylphosphatidylinositol Oligosaccharides.

ACS chemical biology
2022

Hypophosphatasia: Vitamin B6 status of affected children and adults.

Bone
2021

Is impaired energy production a novel insight into the pathogenesis of pyridoxine-dependent epilepsy due to biallelic variants in ALDH7A1?

PloS one
2021

The challenges of pregnancy management in pyridoxine nonresponsive homocystinuria: The Irish experience.

JIMD reports
2021

Determination of Vitamin B3 Vitamer (Nicotinamide) and Vitamin B6 Vitamers in Human Hair Using LC-MS/MS.

Molecules (Basel, Switzerland)
2021

A review of treatment modalities in gyrate atrophy of the choroid and retina (GACR).

Molecular genetics and metabolism
2021

Cognitive and neurological outcome of patients in the Dutch pyridoxine-dependent epilepsy (PDE-ALDH7A1) cohort, a cross-sectional study.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society
2021

Monosodium Glutamate Induces Changes in Hepatic and Renal Metabolic Profiles and Gut Microbiome of Wistar Rats.

Nutrients
2021

A metabolomic endotype of bioenergetic dysfunction predicts mortality in critically ill patients with acute respiratory failure.

Scientific reports
2021

Vitamin B6 deficiency with normal plasma levels of pyridoxal 5'-phosphate in perinatal hypophosphatasia.

Bone
2022

Concurrent zinc and vitamin B6 deficiencies in acutely exacerbated inflammatory bowel disease: Case reports.

Nutrition in clinical practice : official publication of the American Society for Parenteral and Enteral Nutrition
2021

Classical homocystinuria, is it safe to exercise?

Molecular genetics and metabolism reports
2021

Novel Treatment for Congenital Disorder of Glycosylation in a Patient with Novel Homozygote Mutation of PMM2: A Case Report and Review Literature.

Endocrine, metabolic &amp; immune disorders drug targets
2021

Early-onset vitamin B6-dependent epilepsy due to pathogenic PLPBP variants in a premature infant: A case report and review of the literature.

JIMD reports

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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. Severe ethylene glycol toxicity leading to persistent kidney disease.
    BMJ case reports· 2026· PMID 41825907mais citado
  2. Gyrate atrophy of the choroid and retina: a tertiary center experience.
    Orphanet journal of rare diseases· 2026· PMID 41699715mais citado
  3. Hepatocellular Carcinoma: A Critical Complication in Patients Treated with Pyridoxal Phosphate.
    Neuropediatrics· 2026· PMID 41429136mais citado
  4. Untargeted Metabolomics for Diagnosis, Monitoring, and Understanding the Pathophysiology of Inherited Metabolic Disorders.
    Journal of inherited metabolic disease· 2026· PMID 41330729mais citado
  5. Metabolic changes in root exudates of plants with different disease severity affect plant resistance by regulating the rhizosphere microbiome.
    Pest management science· 2026· PMID 41103267mais citado
  6. Gut microbiota response to Enterocytozoon bieneusi infection in wild rodents: enhanced vitamin B and K(2) biosynthesis pathways.
    BMC Genomics· 2026· PMID 41645054recente
  7. Homocystinuria: Advances in metabolic and molecular therapies targeting homocysteine pathways (Review).
    Mol Med Rep· 2026· PMID 41235668recente
  8. Vitamin B6 (Pyridoxal 5' Phosphate) antagonises carotid body P2X3 receptors in hypertension.
    Cardiovasc Res· 2026· PMID 41094718recente
  9. Targeted Microbial Shifts and Metabolite Profiles Were Associated with Clinical Response to an Anti-Inflammatory Diet in Osteoarthritis.
    Nutrients· 2025· PMID 40944120recente
  10. Lyophilised reservoirs in combination with hydrogel-forming microarray patches for transdermal delivery of isoniazid and pyridoxine hydrochloride.
    Biomater Adv· 2025· PMID 40382893recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:79192(Orphanet)
  2. MONDO:0019237(MONDO)
  3. GARD:18966(GARD (NIH))
  4. Variantes catalogadas(ClinVar)
  5. Busca completa no PubMed(PubMed)
  6. Q55788558(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 piridoxina
Compêndio · Raras BR

Doença do metabolismo da piridoxina

ORPHA:79192 · MONDO:0019237
CID-11
MedGen
UMLS
C5681285
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