Doença metabólica hereditária que tem como base a interrupção do processo metabólico da piridoxina.
Introdução
O que você precisa saber de cara
Doença metabólica hereditária que tem como base a interrupção do processo metabólico da piridoxina.
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Entender a doença
Do básico ao detalhe, leia no seu ritmo
Preparando trilha educativa...
Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 35 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 83 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Genes associados
3 genes identificados com associação a esta condição.
Catalyzes the oxidation of either pyridoxine 5'-phosphate (PNP) or pyridoxamine 5'-phosphate (PMP) into pyridoxal 5'-phosphate (PLP)
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,.
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
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.
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
MitochondrionCytoplasm, cytosolCell membraneGolgi apparatus membraneNucleus
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.
Variantes genéticas (ClinVar)
518 variantes patogênicas registradas no ClinVar.
Vias biológicas (Reactome)
3 vias biológicas associadas aos genes desta condição.
Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
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
Hospital de Apoio de Brasília (HAB)
AENW 3 Lote A Setor Noroeste - Plano Piloto, Brasília - DF, 70684-831 · CNES 0010456
Serviço de Referência
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
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
Hospital das Clínicas da UFMG
Av. Prof. Alfredo Balena, 110 - Santa Efigênia, Belo Horizonte - MG, 30130-100 · CNES 2280167
Serviço de Referência
NUPAD / Faculdade de Medicina UFMG
Av. Prof. Alfredo Balena, 189 - 5 andar - Centro, Belo Horizonte - MG, 30130-100 · CNES 2183226
Serviço de Referência
Hospital Universitário João de Barros Barreto
R. dos Mundurucus, 4487 - Guamá, Belém - PA, 66073-000 · CNES 2337878
Serviço de Referência
Hospital de Clínicas da Universidade Federal de Pernambuco
Av. Prof. Moraes Rego, 1235 - Cidade Universitária, Recife - PE, 50670-901 · CNES 2561492
Atenção Especializada
Instituto de Medicina Integral Prof. Fernando Figueira (IMIP)
R. dos Coelhos, 300 - Boa Vista, Recife - PE, 50070-902 · CNES 0000647
Serviço de Referência
Hospital de Clínicas da UFPR
R. Gen. Carneiro, 181 - Alto da Glória, Curitiba - PR, 80060-900 · CNES 2364980
Serviço de Referência
Hospital Universitário Pedro Ernesto (HUPE-UERJ)
Blvd. 28 de Setembro, 77 - Vila Isabel, Rio de Janeiro - RJ, 20551-030 · CNES 2280221
Serviço de Referência
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
Hospital Universitário Onofre Lopes (HUOL)
Av. Nilo Peçanha, 620 - Petrópolis, Natal - RN, 59012-300 · CNES 2408570
Atenção Especializada
Hospital São Lucas da PUCRS
Av. Ipiranga, 6690 - Jardim Botânico, Porto Alegre - RS, 90610-000 · CNES 2232928
Serviço de Referência
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
Hospital Universitário da UFSC (HU-UFSC)
R. Profa. Maria Flora Pausewang - Trindade, Florianópolis - SC, 88036-800 · CNES 2560356
Serviço de Referência
Hospital das Clínicas da FMUSP
R. Dr. Ovídio Pires de Campos, 225 - Cerqueira César, São Paulo - SP, 05403-010 · CNES 2077485
Serviço de Referência
Hospital de Clínicas da UNICAMP
R. Vital Brasil, 251 - Cidade Universitária, Campinas - SP, 13083-888 · CNES 2748223
Serviço de Referência
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
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
UNIFESP / Hospital São Paulo
R. Napoleão de Barros, 715 - Vila Clementino, São Paulo - SP, 04024-002 · CNES 2688689
Serviço de Referência
Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.
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Publicações mais relevantes
Severe ethylene glycol toxicity leading to persistent kidney disease.
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.
Gyrate atrophy of the choroid and retina: a tertiary center experience.
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.
Hepatocellular Carcinoma: A Critical Complication in Patients Treated with Pyridoxal Phosphate.
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.
Untargeted Metabolomics for Diagnosis, Monitoring, and Understanding the Pathophysiology of Inherited Metabolic Disorders.
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.
Metabolic changes in root exudates of plants with different disease severity affect plant resistance by regulating the rhizosphere microbiome.
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.
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Brain & developmentIntake of B vitamins and the risk of developing islet autoimmunity and type 1 diabetes in the TEDDY study.
European journal of nutritionA Gadolinium(III) Complex Based on Pyridoxine Molecule with Single-Ion Magnet and Magnetic Resonance Imaging Properties.
International journal of molecular sciencesPyridoxine challenge reflects pediatric hypophosphatasia severity and thereby examines tissue-nonspecific alkaline phosphatase's role in vitamin B6 metabolism.
BoneStudy 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 pharmacologyMicronutrient Deficiency in Inherited Metabolic Disorders Requiring Diet Regimen: A Brief Critical Review.
International journal of molecular sciencesPyridoxine Deficiency and Neurologic Dysfunction: An Unlikely Association.
CureusPrevalence estimate of sphingosine phosphate lyase insufficiency syndrome in worldwide and select populations.
Genetics in medicine openRamen noodle neuropathy: an atypical case of partial paralysis from malnutrition.
The American journal of emergency medicineDecreased liver B vitamin-related enzymes as a metabolic hallmark of cancer cachexia.
Nature communicationsLower levels of the neuroprotective tryptophan metabolite, kynurenic acid, in users of estrogen contraceptives.
Scientific reportsAssociation of B vitamin intake and total homocysteine levels with all-cause and cause-specific mortality in central obesity.
Nutrition (Burbank, Los Angeles County, Calif.)The effectiveness of citrates and pyridoxine in the treatment of kidney stones.
Journal of medicine and lifeTreatment of seizures in the neonate: Guidelines and consensus-based recommendations-Special report from the ILAE Task Force on Neonatal Seizures.
EpilepsiaPearls & Oy-sters: Delayed Response to Pyridoxine in Pyridoxine-Dependent Epilepsy.
NeurologyGeneration of an induced pluripotent stem cell line carrying biallelic deletions (SCTCi019-B) in ALDH7A1 using CRISPR/Cas9.
Stem cell researchUpdate current understanding of neurometabolic disorders related to lysine metabolism.
Epilepsy & behavior : E&BNatural history of urine and plasma oxalate in children with primary hyperoxaluria type 1.
Pediatric nephrology (Berlin, Germany)Recent advances in neurometabolic diseases: The genetic role in the modern era.
Epilepsy & behavior : E&BIs withdrawal of nocturnal hyperhydration possible in children with primary hyperoxaluria treated with RNAi?
Journal of nephrologyPhysiological Associations between Vitamin B Deficiency and Diabetic Kidney Disease.
BiomedicinesA Non-targeted Metabolomics Reveals Therapeutical Effect and Mechanism of Sanmiao Pill on Adjuvant-induced Arthritis Rats.
Current pharmaceutical designRelationship Between Vitamins and Diabetes.
CureusNutritional Support System (NSS) as a New Therapeutic Strategy for Cerebral Palsy.
CNS & neurological disorders drug targetsPyridoxine-dependent epilepsy: Current perspectives and questions for future research.
Annals of the Child Neurology SocietyNew K50R mutant mouse models reveal impaired hypusination of eif5a2 with alterations in cell metabolite landscape.
Biology openDemand for Water-Soluble Vitamins in a Group of Patients with CKD versus Interventions and Supplementation-A Systematic Review.
NutrientsUntargeted, High-Resolution Metabolomics in Pediatric Eosinophilic Esophagitis.
Journal of pediatric gastroenterology and nutritionBiochemical and cellular effects of a novel missense mutation of the AGXT gene associated with Primary Hyperoxaluria Type 1.
Biochemical and biophysical research communicationsHyperphosphatasia with mental retardation syndrome 3: Cerebrospinal fluid abnormalities and correction with pyridoxine and Folinic acid.
JIMD reportsPreventing Vitamin B6-Related Neurotoxicity.
American journal of therapeuticsInfantile Spasms without Hypsarrhythmia and Paroxysmal Eye-Head Movements in an Infant with a Pyridoxine-Dependent Epilepsy due to PLPBP/PLPHP Deficiency.
NeuropediatricsChemical Modifications of Pyridoxine for Biological Applications: An Overview.
Current topics in medicinal chemistryRecent therapeutic approaches to cystathionine beta-synthase-deficient homocystinuria.
British journal of pharmacologyPyridoxine-dependent Epilepsy caused by a Novel homozygous mutation in PLPBP Gene.
Metabolic brain diseaseSimplifying the B Complex: How Vitamins B6 and B9 Modulate One Carbon Metabolism in Cancer and Beyond.
MetabolitesValidated 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 sciencesMetabolomics analysis of antiquitin deficiency in cultured human cells and plasma: Relevance to pyridoxine-dependent epilepsy.
Journal of inherited metabolic diseaseTargeting the Diagnosis in an Adolescent with Epilepsy and Intellectual Disability through Next-Generation Metabolic Screening.
Clinical chemistryNutrient patterns and non-alcoholic fatty liver disease in Iranian Adul: A case-control study.
Frontiers in nutritionHomocystinuria diagnosis and management: it is not all classical.
Journal of clinical pathologyAssociation Between Lysine Reduction Therapies and Cognitive Outcomes in Patients With Pyridoxine-Dependent Epilepsy.
NeurologyCase report: Fatal outcome of pyridoxine-dependent epilepsy presenting as respiratory distress followed by a circulatory collapse.
Frontiers in pediatricsCRISPR/Cas9-mediated knock-out of AGXT1 in HepG2 cells as a new in vitro model of Primary Hyperoxaluria Type 1.
BiochimieRefractory Seizures Secondary to Vitamin B6 Deficiency in Parkinson Disease: The Role of Carbidopa-Levodopa.
Case reports in neurologyHyperhomocysteinemia in acute hepatic porphyria (AHP) and implications for treatment with givosiran.
Expert review of gastroenterology & hepatologyA sensitive UPLC-MS/MS method for simultaneous quantification of one-carbon metabolites & co-factors in human plasma.
Journal of pharmaceutical and biomedical analysisA 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 geneticsEffect of vitamin B6 on pain, disease severity, and psychological profile of fibromyalgia patients; a randomized, double-blinded clinical trial.
BMC musculoskeletal disordersPyridoxine-dependent epilepsy (PDE-ALDH7A1) in adulthood: A Dutch pilot study exploring clinical and patient-reported outcomes.
Molecular genetics and metabolism reportsThe Microbiota and It's Correlation With Metabolites in the Gut of Mice With Nonalcoholic Fatty Liver Disease.
Frontiers in cellular and infection microbiologyA 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 SocietyPyridoxal Kinase of Disease-causing Human Parasites: Structural and Functional Insights to Understand its Role in Drug Discovery.
Current protein & peptide scienceComparative 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 IndiaPrimary hyperoxaluria type 1: novel therapies at a glance.
Clinical kidney journalVitamin 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)Nutrition interventions in congenital disorders of glycosylation.
Trends in molecular medicineClinical Reasoning: Pediatric Seizures of Unknown Cause.
NeurologyESPEN micronutrient guideline.
Clinical nutrition (Edinburgh, Scotland)Clinical, Biochemical, Radiological, and Genetic Profile of Patients with Homocysteine Remethylation Pathway Defect and Spastic Paraplegia.
Annals of Indian Academy of NeurologyStatus Epilepticus due to Asfotase Alfa Interruption in Perinatal Severe Hypophosphatasia.
Pediatric neurologyTiming of therapy and neurodevelopmental outcomes in 18 families with pyridoxine-dependent epilepsy.
Molecular genetics and metabolismA case for newborn screening for pyridoxine-dependent epilepsy.
Cold Spring Harbor molecular case studiesPyridoxine or pyridoxal-5-phosphate treatment for seizures in glycosylphosphatidylinositol deficiency: A cohort study.
Developmental medicine and child neurologyPyridoxine-Dependent Epilepsy and Antiquitin Deficiency Resulting in Neonatal-Onset Refractory Seizures.
Brain sciencesMetabolic Therapy of Heart Failure: Is There a Future for B Vitamins?
International journal of molecular sciencesHypoventilation and progressive encephalopathy in a neonate with MTHFR deficiency.
BMJ case reportsNutrients to Improve Mitochondrial Function to Reduce Brain Energy Deficit and Oxidative Stress in Migraine.
NutrientsIdentification of three novel pathogenic mutations in cystathionine beta-synthase gene of Pakistani intellectually disabled patients.
Journal of pediatric endocrinology & metabolism : JPEMPrimary Hyperoxaluria Type 1 (PH1) Presenting With End-Stage Kidney Disease and Cutaneous Manifestations in Adulthood: A Case Report.
Canadian journal of kidney health and diseaseTranscriptomics integrated with metabolomics reveals the effect of Bisphenol F (BPF) exposure on intestinal inflammation.
The Science of the total environmentCharacterization of Novel Pathogenic Variants Causing Pyridox(am)ine 5'-Phosphate Oxidase-Dependent Epilepsy.
International journal of molecular sciencesB 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 scienceRescue of Glycosylphosphatidylinositol-Anchored Protein Biosynthesis Using Synthetic Glycosylphosphatidylinositol Oligosaccharides.
ACS chemical biologyHypophosphatasia: Vitamin B6 status of affected children and adults.
BoneIs impaired energy production a novel insight into the pathogenesis of pyridoxine-dependent epilepsy due to biallelic variants in ALDH7A1?
PloS oneThe challenges of pregnancy management in pyridoxine nonresponsive homocystinuria: The Irish experience.
JIMD reportsDetermination of Vitamin B3 Vitamer (Nicotinamide) and Vitamin B6 Vitamers in Human Hair Using LC-MS/MS.
Molecules (Basel, Switzerland)A review of treatment modalities in gyrate atrophy of the choroid and retina (GACR).
Molecular genetics and metabolismCognitive 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 SocietyMonosodium Glutamate Induces Changes in Hepatic and Renal Metabolic Profiles and Gut Microbiome of Wistar Rats.
NutrientsA metabolomic endotype of bioenergetic dysfunction predicts mortality in critically ill patients with acute respiratory failure.
Scientific reportsVitamin B6 deficiency with normal plasma levels of pyridoxal 5'-phosphate in perinatal hypophosphatasia.
BoneConcurrent 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 NutritionClassical homocystinuria, is it safe to exercise?
Molecular genetics and metabolism reportsNovel Treatment for Congenital Disorder of Glycosylation in a Patient with Novel Homozygote Mutation of PMM2: A Case Report and Review Literature.
Endocrine, metabolic & immune disorders drug targetsEarly-onset vitamin B6-dependent epilepsy due to pathogenic PLPBP variants in a premature infant: A case report and review of the literature.
JIMD reportsAssociações
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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.
- Severe ethylene glycol toxicity leading to persistent kidney disease.
- Gyrate atrophy of the choroid and retina: a tertiary center experience.
- Hepatocellular Carcinoma: A Critical Complication in Patients Treated with Pyridoxal Phosphate.
- Untargeted Metabolomics for Diagnosis, Monitoring, and Understanding the Pathophysiology of Inherited Metabolic Disorders.
- Metabolic changes in root exudates of plants with different disease severity affect plant resistance by regulating the rhizosphere microbiome.
- Gut microbiota response to Enterocytozoon bieneusi infection in wild rodents: enhanced vitamin B and K(2) biosynthesis pathways.
- Homocystinuria: Advances in metabolic and molecular therapies targeting homocysteine pathways (Review).
- Vitamin B6 (Pyridoxal 5' Phosphate) antagonises carotid body P2X3 receptors in hypertension.
- Targeted Microbial Shifts and Metabolite Profiles Were Associated with Clinical Response to an Anti-Inflammatory Diet in Osteoarthritis.
- Lyophilised reservoirs in combination with hydrogel-forming microarray patches for transdermal delivery of isoniazid and pyridoxine hydrochloride.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:79192(Orphanet)
- MONDO:0019237(MONDO)
- GARD:18966(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- 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
