Doença hereditária autossômica recessiva causada por mutações nos genes BCKDHA, BCKDHB, DBT e DLD. É caracterizada por uma deficiência do complexo alfa-cetoácido desidrogenase de cadeia ramificada, levando ao acúmulo de metabólitos nos fluidos corporais. O nome da doença deriva do odor adocicado da urina dos bebês, que lembra o xarope de bordo. Os sinais e sintomas geralmente aparecem na infância e incluem letargia e atrasos no desenvolvimento. Se não for tratada, pode causar convulsões, coma e morte.
Introdução
O que você precisa saber de cara
Doença hereditária autossômica recessiva causada por mutações nos genes BCKDHA, BCKDHB, DBT e DLD. É caracterizada por uma deficiência do complexo alfa-cetoácido desidrogenase de cadeia ramificada, levando ao acúmulo de metabólitos nos fluidos corporais. O nome da doença deriva do odor adocicado da urina dos bebês, que lembra o xarope de bordo. Os sinais e sintomas geralmente aparecem na infância e incluem letargia e atrasos no desenvolvimento. Se não for tratada, pode causar convulsões, coma e morte.
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
Encontrou um erro ou informação desatualizada? Sugira uma correção →
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
+ 26 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 62 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
Triagem neonatal (Teste do Pezinho)
A triagem neonatal permite diagnóstico precoce e início imediato do tratamento.
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
5 genes identificados com associação a esta condição. Padrão de herança: Autosomal recessive.
Lipoamide dehydrogenase is a component of the glycine cleavage system as well as an E3 component of three alpha-ketoacid dehydrogenase complexes (pyruvate-, alpha-ketoglutarate-, and branched-chain amino acid-dehydrogenase complex) (PubMed:15712224, PubMed:16442803, PubMed:16770810, PubMed:17404228, PubMed:20160912, PubMed:20385101). The 2-oxoglutarate dehydrogenase complex is mainly active in the mitochondrion (PubMed:29211711). A fraction of the 2-oxoglutarate dehydrogenase complex also locali
Mitochondrion matrixNucleusCell projection, cilium, flagellumCytoplasmic vesicle, secretory vesicle, acrosome
Dihydrolipoamide dehydrogenase deficiency
An autosomal recessive metabolic disorder characterized biochemically by a combined deficiency of the branched-chain alpha-keto acid dehydrogenase complex (BCKDC), pyruvate dehydrogenase complex (PDC), and alpha-ketoglutarate dehydrogenase complex (KGDC). Clinically, affected individuals have lactic acidosis and neurologic deterioration due to sensitivity of the central nervous system to defects in oxidative metabolism.
The branched-chain alpha-keto dehydrogenase complex catalyzes the overall conversion of alpha-keto acids to acyl-CoA and CO(2). It contains multiple copies of three enzymatic components: branched-chain alpha-keto acid decarboxylase (E1), lipoamide acyltransferase (E2) and lipoamide dehydrogenase (E3). Within this complex, the catalytic function of this enzyme is to accept, and to transfer to coenzyme A, acyl groups that are generated by the branched-chain alpha-keto acid decarboxylase component
Mitochondrion matrix
Serine/threonine-protein phosphatase component of macronutrients metabolism. Forms a functional kinase and phosphatase pair with BCKDK, serving as a metabolic regulatory node that coordinates branched-chain amino acids (BCAAs) with glucose and lipid metabolism via two distinct phosphoprotein targets: mitochondrial BCKDHA subunit of the branched-chain alpha-ketoacid dehydrogenase (BCKDH) complex and cytosolic ACLY, a lipogenic enzyme of Krebs cycle (PubMed:17336929, PubMed:17374715, PubMed:194117
Mitochondrion matrix
Maple syrup urine disease, mild variant
A mild form of maple syrup urine disease, a metabolic disorder due to an enzyme defect in the catabolic pathway of the branched-chain amino acids leucine, isoleucine, and valine. Accumulation of these 3 amino acids and their corresponding keto acids leads to encephalopathy and progressive neurodegeneration. Clinical features include mental and physical retardation, feeding problems, and a maple syrup odor to the urine. The keto acids of the branched-chain amino acids are present in the urine. If untreated, maple syrup urine disease can lead to seizures, coma, and death. The disease is often classified by its pattern of signs and symptoms. The most common and severe form of the disease is the classic type, which becomes apparent soon after birth. Variant forms of the disorder become apparent later in infancy or childhood and are typically milder, but they still involve developmental delay and other medical problems if not treated. MSUDMV is characterized by increased plasma levels of branched-chain amino acids (BCAA) apparent at birth. Treatment with a low-protein diet free of BCAA can result in normal psychomotor development and lack of metabolic episodes.
Together with BCKDHA forms the heterotetrameric E1 subunit of the mitochondrial branched-chain alpha-ketoacid dehydrogenase (BCKD) complex. The BCKD complex catalyzes the multi-step oxidative decarboxylation of alpha-ketoacids derived from the branched-chain amino-acids valine, leucine and isoleucine producing CO2 and acyl-CoA which is subsequently utilized to produce energy. The E1 subunit catalyzes the first step with the decarboxylation of the alpha-ketoacid forming an enzyme-product intermed
Mitochondrion matrix
Maple syrup urine disease 1B
A form of maple syrup urine disease, an autosomal recessive metabolic disorder due to an enzyme defect in the catabolic pathway of the branched-chain amino acids leucine, isoleucine, and valine. Accumulation of these 3 amino acids and their corresponding keto acids leads to encephalopathy and progressive neurodegeneration. Clinical features include mental and physical retardation, feeding problems, and a maple syrup odor to the urine. The keto acids of the branched-chain amino acids are present in the urine. If untreated, maple syrup urine disease can lead to seizures, coma, and death. The disease is often classified by its pattern of signs and symptoms. The most common and severe form of the disease is the classic type, which becomes apparent soon after birth. Variant forms of the disorder become apparent later in infancy or childhood and are typically milder, but they still involve developmental delay and other medical problems if not treated.
Together with BCKDHB forms the heterotetrameric E1 subunit of the mitochondrial branched-chain alpha-ketoacid dehydrogenase (BCKD) complex. The BCKD complex catalyzes the multi-step oxidative decarboxylation of alpha-ketoacids derived from the branched-chain amino-acids valine, leucine and isoleucine producing CO2 and acyl-CoA which is subsequently utilized to produce energy. The E1 subunit catalyzes the first step with the decarboxylation of the alpha-ketoacid forming an enzyme-product intermed
Mitochondrion matrix
Maple syrup urine disease 1A
A form of maple syrup urine disease, an autosomal recessive metabolic disorder due to an enzyme defect in the catabolic pathway of the branched-chain amino acids leucine, isoleucine, and valine. Accumulation of these 3 amino acids and their corresponding keto acids leads to encephalopathy and progressive neurodegeneration. Clinical features include mental and physical retardation, feeding problems, and a maple syrup odor to the urine. The keto acids of the branched-chain amino acids are present in the urine. If untreated, maple syrup urine disease can lead to seizures, coma, and death. The disease is often classified by its pattern of signs and symptoms. The most common and severe form of the disease is the classic type, which becomes apparent soon after birth. Variant forms of the disorder become apparent later in infancy or childhood and are typically milder, but they still involve developmental delay and other medical problems if not treated.
Variantes genéticas (ClinVar)
426 variantes patogênicas registradas no ClinVar.
Classificação de variantes (ClinVar)
Distribuição de 2,352 variantes classificadas pelo ClinVar.
Vias biológicas (Reactome)
16 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 da urina xarope de bordo
Selecione um estado ou use sua localização para ver resultados.
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
Ensaios em destaque
🟢 Recrutando agora
2 pesquisas recrutando participantes. Converse com seu médico sobre a possibilidade de participar.
Outros ensaios clínicos
17 ensaios clínicos encontrados, 5 ativos.
Publicações mais relevantes
Assessing the nutritional value and health risks of special low‑protein foods: narrative review.
Special low-protein foods (SLPFs) are essential for patients with disorders of inherited amino acid metabolism that require lifelong dietary protein restriction to prevent severe neurocognitive effects and even death. Conditions such as phenylketonuria (PKU), tyrosinemia (TYR), maple syrup urine disease (MSUD), homocystinuria (HCU), and urea cycle disorders (UCD) depend on these foods to support metabolic control and dietary adherence. SLPFs provide satiety, energy, and help prevent catabolism, but their nutritional composition poses challenges. Most SLPFs are formulated using isolated starches as the primary macronutrient base. Hydrocolloid fibers are commonly added to improve texture, consistency, shelf life, and water or gas retention. These ingredients form the backbone of SLPFs production and are consistently used across different regions worldwide, reflecting a standardized approach to their formulation. However, their potential adverse effects include suppression of gut microbiota, gut dysbiosis, increased inflammatory markers, overweight, and obesity, all of which raise cardio‑metabolic risks. Strengthening the nutritional quality of SLPFs through natural plant sources may help mitigate their potential adverse outcomes while ensuring patients’ dietary needs are met. Therefore, it is important to explore natural low‑protein alternatives that can both support sustainable food production and promote long‑term health benefits.
A risk-based, QTPP-driven framework for semi-solid extrusion 3d printing of personalized medicines: Integrating hospital compounding and clinical trial regulation.
Semi-solid extrusion (SSE) 3D printing enables precise, patient-specific oral medicines, yet its uptake is constrained by fragmented regulatory pathways. This study develops an applied, risk-based framework grounded in empirical data from hospital compounding and early-phase clinical trial implementation, integrating both within a unified regulatory model through the concept of the printable ink as a pharmaceutical intermediate. Drawing from three pediatric use cases involving 5 different active pharmaceuticals ingredients (APIs), trimethoprim-sulfamethoxazole (Bactrim®), cyclophosphamide, tamoxifen (OPERA clinical trial) and isoleucine (Maple syrup urine disease) the framework applies quality-by-design principles (ICH Q8-Q11, USP <1220>) to define critical quality attributes (CQAs), critical process parameters (CPPs), and in-process controls (IPCs) suitable for both centralized and point-of-care production. Two complementary tables stratify APIs by risk and map them to actionable quality control strategies, enabling science-based decisions on when IPCs alone suffice versus when full GMP oversight is required. This harmonized model supports reproducible, traceable production across decentralized sites, addressing regulatory ambiguity while preserving flexibility for innovation in paediatric and rare disease care.
A case of maple syrup urine disease with infantile epileptic spasms syndrome: Challenges in a resource-limited setting.
Alterations in gut microbiota composition in children with methylmalonic acidemia, propionic acidemia, and maple syrup urine disease.
Methylmalonic acidemia (MMA), propionic acidemia (PA), and maple syrup urine disease (MSUD) are rare monogenic disorders that are described as intoxication-type inborn errors of metabolism (IEMs). They usually present in early life, and long-term management requires strict dietary protein restriction, which may significantly alter gut microbiota composition. Despite growing interest in microbiome research, limited data exist on gut microbiota in these disorders, and no study is available for MMA and MSUD. We aimed to describe the gut microbiota compositions in children with MMA, PA, and MSUD. A total of eight patients (Five MMA, one PA, and two MSUD), and 11age-matched healthy controls were enrolled. All patients were following a medically supervised, protein-restricted diet. Fecal sample was collected from each participant, and gut microbiota composition was evaluated with 16S rRNA sequencing. Patients with MMA, PA, and MSUD exhibited significantly altered gut microbiota composition compared to healthy controls. Alpha diversity analysis revealed reduced microbial richness in patients, with significantly lower Chao1 and observed OTU indices (p < 0.05). Beta diversity metrics demonstrated distinct clustering between groups, indicating significantly different microbial community structures. Higher relative abundances of opportunistic or dysbiotic taxa have been seen in patient group, while controls were enriched in beneficial taxa like Faecalibacterium prausnitzii, Ruminococcus, and Lactobacillus. LEfSe analysis identified 17 taxa enriched in patients-including members of Proteobacteria, Sphingobacteriia, and Streptococcus anginosus-and 6 taxa enriched in controls, notably Faecalibacterium prausnitzi. This is the first descriptive study of the gut microbiota composition of MMA, PA, and MSUD patients. These findings indicate an association between long-term dietary management and altered microbiota composition, although causality cannot be inferred due to the cross-sectional study design. The observed alterations suggest that the gut microbiota may represent a novel therapeutic target in the management of IEMs.
A Colorimetric Multimetabolite Assay for Quantitative Measurement of Keto Acids in Urine for At-Home Monitoring of Metabolic Disorders.
Inborn errors of metabolism such as phenylketonuria (PKU) and maple syrup urine disease (MSUD) can cause severe developmental problems. Both conditions can lead to harmful levels of keto acids in biofluids-phenylpyruvic acid (PPA) in PKU and branched-chain α-keto acids in MSUD. Monitoring urinary keto acids helps track dietary adherence and reduces the risk of metabolic crisis. However, current at-home tests are qualitative and difficult to interpret, while existing metabolomic assays require expensive equipment and must be conducted in a lab. This study aimed to develop a simple, quantitative, rapid, at-home assay for detecting multiple urinary keto acids associated with PKU and MSUD. A modified two-step 2,4-dinitrophenylhydrazine (DNPH)-based multimetabolite assay was developed, where sodium hydroxide (NaOH) converts the yellow hydrazone precipitate to a stable amber solution, enabling quantification of multiple keto acids (700-7200 μM) within 10 min. The assay was validated using spiked urine samples and adapted into a prototype at-home kit using caprolactam-immobilized NaOH. Nuclear magnetic resonance (NMR)-based metabolomics was used as a reference method to authenticate readings from a PKU patient. Correlation studies demonstrated strong linearity for MSUD (R 2 = 0.91-0.96)- and PKU (R 2 = 0.95-0.99)-spiked samples. Quantification of keto acids in authentic PKU urine samples showed excellent agreement with the results of quantitative NMR-based metabolomics assays (R 2 = 0.99). Low-cost, at-home colorimetric tests for urinary keto acids could enable screening, detection, and monitoring of PKU and MSUD in the 90% of the world without access to advanced metabolic clinics.
Publicações recentes
Relationship of Filipino MSUD Children's Nutrient Intake, Nutritional Status, and Leucine Level, and Caregiver's Nutrition Knowledge, Attitudes, and Practices.
Simplifying supplementation in MSUD: tolerance and acceptability of liquid valine and isoleucine supplements in maple syrup urine disease.
Alterations in gut microbiota composition in children with methylmalonic acidemia, propionic acidemia, and maple syrup urine disease.
Assessing the nutritional value and health risks of special low‑protein foods: narrative review.
A Colorimetric Multimetabolite Assay for Quantitative Measurement of Keto Acids in Urine for At-Home Monitoring of Metabolic Disorders.
📚 EuropePMC842 artigos no totalmostrando 199
Alterations in gut microbiota composition in children with methylmalonic acidemia, propionic acidemia, and maple syrup urine disease.
European journal of clinical nutritionAssessing the nutritional value and health risks of special low‑protein foods: narrative review.
Orphanet journal of rare diseasesA Colorimetric Multimetabolite Assay for Quantitative Measurement of Keto Acids in Urine for At-Home Monitoring of Metabolic Disorders.
Journal of analytical methods in chemistryClinical Profiles, Genetic Variants, and Neurodevelopmental Outcomes Following Liver Transplantation in Maple Syrup Urine Disease: A Study From Palestine.
JIMD reportsA case of maple syrup urine disease with infantile epileptic spasms syndrome: Challenges in a resource-limited setting.
Pediatrics international : official journal of the Japan Pediatric SocietyApplication of high-resolution mass spectrometry profiling towards the diagnosis and acute management of maple syrup urine disease.
Molecular genetics and metabolism reportsMetformin therapy to facilitate weight loss in adults with classic maple syrup urine disease.
Molecular genetics and metabolismCongenital Inborn Errors of Metabolism: Clinical and Imaging Pearls.
Radiographics : a review publication of the Radiological Society of North America, IncPediatric Full and In-situ Split Domino Living Donor Liver Transplants Experience.
Transplantation proceedingsNavigating Adulthood with Maple Syrup Urine Disease: Patient and Caregiver Perspectives on Healthcare Transition and Independent Living.
Research squarePediatric liver transplant for maple syrup urine disease a single center experience.
Frontiers in pediatricsExpanded Newborn Screening for Inborn Errors of Metabolism at a Single Center in Louisiana (2005-2024): Outcomes.
International journal of neonatal screeningDomino Hepatectomy and Implantation With Innovative Outflow Reconstruction for an Adult Patient With Maple Syrup Urine Disease and Type 1 Diabetes Mellitus: Surgical Technique.
Experimental and clinical transplantation : official journal of the Middle East Society for Organ TransplantationGenetic variability in maple syrup urine disease: novel mutations and their pathogenicity in the Iranian population.
Molecular biology reportsInflammation in maple syrup urine disease.
Clinica chimica acta; international journal of clinical chemistryCerebral edema in maple syrup urine disease: spectrum of clinical presentation and treatment outcomes.
Orphanet journal of rare diseasesNutritional management of metabolic disorders in neonates and infants in Saudi Arabia: consensus recommendations.
Orphanet journal of rare diseasesDesign and pharmacodynamic study of live biotherapeutic products with efficient degradation of branched-chain amino acids.
Bioengineering & translational medicineNeuroprotective, antioxidant and anti-inflammatory effect of carnitine in patients with Maple syrup urine disease: branched-chain amino acids and branched-chain keto acids levels.
Metabolic brain diseaseA colorimetric strategy for quantifying amino acids using E. coli auxotrophs displaying gold-binding proteins.
Biosensors & bioelectronicsBuilding Equity Through Experience: Insights From 1560 Single-Center Pediatric Liver Transplants in a Developing Country.
Pediatric transplantationInsights from Metabolomics Profiling of MSUD in Pediatrics Toward Disease Progression.
MetabolitesA risk-based, QTPP-driven framework for semi-solid extrusion 3d printing of personalized medicines: Integrating hospital compounding and clinical trial regulation.
European journal of pharmaceutical sciences : official journal of the European Federation for Pharmaceutical SciencesSniffing Out Skin Disease: Odors in Dermatologic Conditions.
CutisTransplant Without Borders: Clinical Outcomes and Challenges in Transborder Living Donor Pediatric Liver Transplantation in Jordan.
Therapeutics and clinical risk managementAdenine base editing rescues disrupted BCKDH function and reduces BCAAs toxic accumulation in maple syrup urine disease patient iPSC-hepatic organoids.
Stem cell research & therapyFrom Crisis to Continuum: Redefining Survivorship in Neurometabolic Care.
Pediatric neurologyMinocycline Protects Against Oxidative Stress in a Model of Maple Syrup Urine Disease.
Neurochemical researchTwo Countries, One Metabolic Dilemma: Nutritional Management of Concurrent Maple Syrup Urine Disease and Type 1 Diabetes Mellitus.
Journal of clinical research in pediatric endocrinologyThiamine-responsive maple syrup urine disease missed by newborn screen: A case report.
Molecular genetics and metabolism reportsAltered branched chain ketoacids underlie shared metabolic phenotypes in type 1 diabetes and maple syrup urine disease.
Communications medicineHMG-CoA Synthase-2 Deficiency: Neonatal Hyperammonemic Coma and Abnormal Metabolic Screening Resembling Maple Syrup Urine Disease.
JIMD reports[Maple syrup urine disease decompensation - rare but life-threatening].
PraxisAre protein substitutes available in Italy for infants with inherited metabolic diseases all the same?
Frontiers in nutritionAssembly of Branched Chain Amino Acids to Toxic Fibrils may be Related to Pathogenesis of Maple Syrup Urine Disease.
Chembiochem : a European journal of chemical biologyThe Clinical and Biochemical Impact of the Multivitamin Shortage on Neonatal Patients.
Journal of investigative medicine high impact case reportsHepatic Form of Dihydrolipoamide Dehydrogenase Deficiency (DLDD): Phenotypic Spectrum, Laboratory Findings, and Therapeutic Approaches in 52 Patients.
Journal of inherited metabolic diseaseUnlocking hope: domino liver transplantation for maple syrup syndrome, a single center experience work carried out at the King Fahad Specialist Hospital.
Frontiers in immunologyBranched-chain amino acid transferase type 2 (BCAT2) deficiency: Report of an eighth case and literature review.
Molecular genetics and metabolism reportsNodular Regenerative Hyperplasia Is a Frequent Finding in Explanted Livers of Patients With Maple Syrup Urine Disease.
Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology SocietyAdvancing the Biochemical Understanding of Maple Syrup Urine Disease and the Impact of Liver Transplantation: A Pilot Study.
Journal of proteome researchAcute encephalopathy in a neonate: a diagnostic odyssey leading to maple syrup urine disease (MSUD).
BMJ case reportsSpectrum of genetic variants associated with maple syrup urine disease in the Middle East, North Africa, and Türkiye (MENAT): a systematic review.
BMC medical genomicsShort and Long-Term Outcomes of Liver Transplantation in Pediatric Patients With Inborn Errors of Metabolism: A Single-Center Study.
Pediatric transplantationExpanding the Genetic Spectrum of PPM1K-Related Maple Syrup Urine Disease: A Novel Mutation.
American journal of medical genetics. Part AFunctional connectivity changes in mouse models of maple syrup urine disease.
Cerebral cortex (New York, N.Y. : 1991)BCKDHA-BCKDHB digenic gene therapy restores metabolic homeostasis in two mouse models and a calf with classic maple syrup urine disease.
Science translational medicineThe Frequencies of Different Inborn Errors of Metabolism in Adult Metabolic Centres: 10 Years Later, Another Report From the SSIEM Adult Metabolic Physicians Group.
Journal of inherited metabolic diseaseContribution of Brain Intrinsic Branched-Chain Amino Acid Metabolism in a Novel Mouse Model of Maple Syrup Urine Disease.
Journal of inherited metabolic diseaseThe branched-chain amino acid-related isoleucic acid: recent research advances.
Plant biology (Stuttgart, Germany)α-Ketoisocaproic Acid Disrupts Mitochondrial Bioenergetics in the Brain of Neonate Rats: Molecular Modeling Studies of α-ketoglutarate Dehydrogenase Subunits Inhibition.
Neurochemical researchComprehensive Iranian guidelines for the diagnosis and management of maple syrup urine disease: an evidence- and consensus- based approach.
Orphanet journal of rare diseasesAcrodermatitis dysmetabolica: lessons from two pediatric cases.
Journal of pediatric endocrinology & metabolism : JPEMFactors associated with poor outcomes in patients with maple syrup urine disease in a tertiary government hospital: A retrospective cohort study.
JIMD reportsAcute metabolic decompensation after liver transplant in a patient with maple syrup urine disease.
JIMD reportsPhosphatase activity-based PPM1K: a key player in the regulation of mitochondrial function and its multifaceted impact in diseases.
Molecular and cellular biochemistryLiving with a child with MSUD: Psychosocial issues of Filipino parents with a child with maple syrup urine disease.
Genetics in medicine openIntegration of multi-omics layers empowers precision diagnosis through unveiling pathogenic mechanisms on maple syrup urine disease.
Journal of inherited metabolic diseaseExecutive and adaptive function impacts long-term outcomes for adults with maple syrup urine disease.
Journal of inherited metabolic diseaseAssessment of quality of life in families affected by maple syrup urine disease: a cross sectional study.
Journal of pediatric endocrinology & metabolism : JPEMMaple syrup urine disease diagnosed in a resource-limited setting in an infant in Nepal: a case report.
BMC pediatricsDonepezil treatment mitigates cholinergic system alterations, oxidative stress, neuroinflammation and memory impairment induced by branched-chain amino acid administration in rats.
Behavioural brain researchExpanding the genotypic and phenotypic spectrum of Egyptian children with maple syrup urine disease.
Scientific reportsThe Efficacy and Outcomes of Renal Replacement Therapy in Pediatric Metabolic Disorders.
Journal of clinical medicineLiquid chromatography-mass spectrometric method for the simultaneous analysis of branched-chain amino acids and their ketoacids from dried blood spot as secondary analytes for the detection of maple syrup urine disease.
Journal of mass spectrometry and advances in the clinical labExploring molecular spectrum in thai patients with maple syrup urine disease: unveiling a common variant.
Orphanet journal of rare diseasesThe Value of Reducing Inconclusive and False-Positive Newborn Screening Results for Congenital Hypothyroidism, Congenital Adrenal Hyperplasia and Maple Syrup Urine Disease in The Netherlands.
International journal of neonatal screeningUrine organic acid metabolomic profiling by gas chromatography mass spectrometry: Assessment of solvent extract evaporation parameters on the recovery of key diagnostic metabolites.
Clinica chimica acta; international journal of clinical chemistryImpact of early diagnosis, disease variant, and quality of care on the neurocognitive outcome in maple syrup urine disease: A meta-analysis.
Genetics in medicine : official journal of the American College of Medical GeneticsAcceptability of dried blood spot collection by primary caregivers of Filipino patients with maple syrup urine disease (MSUD) and phenylketonuria (PKU).
Journal of community geneticsTwo Novel Mutations in the BCKDHB Gene Cause Intermediate Maple Syrup Urine Disease.
Annals of Indian Academy of NeurologyDomino Liver Transplantation: Anesthetic Considerations for a Patient With Maple Syrup Urine Disease and Type I Diabetes Mellitus.
CureusThe Impact of Diet on Body Composition in a Cohort of Pediatric and Adult Patients with Maple Syrup Urine Disease.
NutrientsA comprehensive in silico analysis of mutation spectrum of maple syrup urine disease (MSUD) genes in Iranian population.
Molecular biology research communicationsDetermination of the Protein and Amino Acid Content of Fruit, Vegetables and Starchy Roots for Use in Inherited Metabolic Disorders.
NutrientsMaple syrup urine disease diagnosis in Brazilian patients by massive parallel sequencing.
Molecular genetics and metabolismLong-Term Amino Acid Homeostasis, Neurodevelopmental and Growth Profiles Following Liver Transplantation in Maple Syrup Urine Disease.
Pediatric transplantationSeizure Characteristics and EEG Features in Intoxication Type and Energy Deficiency Neurometabolic Disorders in the Pediatric Intensive Care Unit: Single-Center Experience Over 10 Years.
Neurocritical careExpanding the Donor Pool to the Ultimate Level: Introducing the Revolutionary Hybrid Dual Graft Liver Transplant Using Domino and Living Donors.
Transplantation directThe natural history of dihydrolipoamide dehydrogenase deficiency in Israel.
Journal of inherited metabolic diseaseLipid Nanoparticle mRNA Therapy Improves Survival and Reduces Serum Branched-Chain Amino Acids in Mouse Models of Maple Syrup Urine Disease.
Human gene therapyTreatment Outcomes for Maple Syrup Urine Disease Detected by Newborn Screening.
PediatricsSize-Dependent Fullerenes for Enhanced Interaction of l-Leucine: A Combined DFT and MD Simulations Approach.
Langmuir : the ACS journal of surfaces and colloidsExploratory Untargeted Metabolomics of Dried Blood Spot Samples from Newborns with Maple Syrup Urine Disease.
International journal of molecular sciencesInborn errors of metabolism and pregnancy.
American journal of obstetrics & gynecology MFMGenotypic and phenotypic spectrum of maple syrup urine disease in Zhejiang of China.
QJM : monthly journal of the Association of PhysiciansIdentifying Metabolic Diseases That Precipitate Neonatal Seizures.
Neonatal network : NNComputational structural genomics and clinical evidence suggest BCKDK gain-of-function may cause a potentially asymptomatic maple syrup urine disease phenotype.
JIMD reportsThe interplay of psychosis and non-compliance with fatal outcome in an adult with MSUD.
American journal of medical genetics. Part A[Newborn screening in France: news and perspectives].
Annales de biologie cliniqueSpace research to explore novel biochemical insights on Earth.
Clinica chimica acta; international journal of clinical chemistryThe oral phenotype and dental management in patients with maple syrup urine disease; case report and scoping review.
BMC oral healthAcute Encephalopathy in a 10-Year-Old Patient With Maple Syrup Urine Disease: A Challenging Diagnosis.
CureusOdimet®: A Pioneering Tele-Health Tool to Empower Dietary Treatment and the Acute Management of Inborn Errors of Metabolism-An Assessment of Its Effectiveness during the COVID Pandemic.
NutrientsAcrodermatitis dysmetabolica with concomitant acquired acrodermatitis enteropathica in a patient with maple syrup urine disease.
JAAD case reportsAcrodermatitis dysmetabolica secondary to isoleucine deficiency in infant with maple syrup urine disease.
Dermatology reportsSuccessful adult domino living donor liver transplantation in methylmalonic acidemia: case report.
Translational gastroenterology and hepatologyChanges in branched-chain amino acids in an infant with maple syrup urine disease during perioperative pediatric liver transplant: A case report.
Paediatric anaesthesiaPubertal origin of growth retardation in inborn errors of protein metabolism: A longitudinal cohort study.
Molecular genetics and metabolismMaple Syrup Urine Disease.
RadiologyLiver-directed gene therapy for inherited metabolic diseases.
Journal of inherited metabolic diseaseCardiac Involvement in Classical Organic Acidurias: Clinical Profile and Outcome in a Pediatric Cohort.
Diagnostics (Basel, Switzerland)Memantine Improves Memory and Neurochemical Damage in a Model of Maple Syrup Urine Disease.
Neurochemical researchAnalysis of Branched Amino Acids by UPLC as an Alternative Method for the Management of Patients with MUSD.
Clinical laboratoryMetabolic crisis in maple syrup urine disease: an unusual complication of a rare disease: a case report.
Anaesthesia and intensive careBranched-Chain Amino Acid Assembly into Amyloid-like Fibrils Provides a New Paradigm for Maple Syrup Urine Disease Pathology.
International journal of molecular sciencesIn Vivo Intracerebral Administration of α-Ketoisocaproic Acid to Neonate Rats Disrupts Brain Redox Homeostasis and Promotes Neuronal Death, Glial Reactivity, and Myelination Injury.
Molecular neurobiologyInvestigation of the effect of vitamin K1 prophylaxis on newborn screenings tests in newborns.
Journal of medical biochemistryEvaluation of the risk factors for noncommunicable diseases in patients with inborn errors of amino acid metabolism receiving nutrition therapy.
Journal of pediatric endocrinology & metabolism : JPEMFasting and non-fasting plasma levels of monomethyl branched chain fatty acids: Implications for maple syrup urine disease.
JIMD reportsDomino liver transplantation for maple syrup urine disease in children: A single-center case series.
Pediatric transplantationLiving Donor-Initiated Domino Split-Liver Transplantation in Pediatric Setup: A Case Report With Literature Review.
Transplantation proceedingsBreastfeeding and Inborn Errors of Amino Acid and Protein Metabolism: A Spreadsheet to Calculate Optimal Intake of Human Milk and Disease-Specific Formulas.
NutrientsInherited Metabolic Diseases from Past to Present: A Bibliometric Analysis (1968-2023).
Children (Basel, Switzerland)Oral enzyme therapy for maple syrup urine disease (MSUD) suppresses plasma leucine levels in intermediate MSUD mice and healthy nonhuman primates.
Journal of inherited metabolic diseaseMaple Syrup Urine Disease: An Uncommon Cause of Neonatal Febrile Seizures.
CureusNewborn screening of maple syrup urine disease and the effect of early diagnosis.
Clinica chimica acta; international journal of clinical chemistryThe impact of liver transplantation on health-related quality of life in (acute) intoxication-type inborn errors of metabolism.
Journal of inherited metabolic diseaseTreatment of maple syrup urine disease: Benefits, risks, and challenges of liver transplantation.
International journal of developmental neuroscience : the official journal of the International Society for Developmental NeuroscienceOutcomes from a Single Transplant Center of 5 Pediatric Cases of Domino Liver Transplantation from Live Donors with Maple Syrup Urine Disease.
Annals of transplantationInsulin Resistance and Impaired Branched-Chain Amino Acid Metabolism in Alzheimer's Disease.
Journal of Alzheimer's disease : JADOrganic Aciduria Disorders in Pregnancy: An Overview of Metabolic Considerations.
MetabolitesMelatonin improves behavioral parameters and oxidative stress in zebrafish submitted to a leucine-induced MSUD protocol.
Metabolic brain diseaseTwin Premature Infants With Riboflavin and Biotin Deficiency Presenting With Refractory Lactic Acidosis, Rash, and Multiorgan Failure During Prolonged Parenteral Nutrition.
Journal of investigative medicine high impact case reportsEpisodic Ataxias: Primary and Secondary Etiologies, Treatment, and Classification Approaches.
Tremor and other hyperkinetic movements (New York, N.Y.)Identification of gene mutations in six Chinese patients with maple syrup urine disease.
Frontiers in geneticsAcute effects of intracerebroventricular administration of α-ketoisocaproic acid in young rats on inflammatory parameters.
Metabolic brain diseaseSuccessful treatment of severe MSUD in Bckdhb-/- mice with neonatal AAV gene therapy.
Journal of inherited metabolic diseaseDiagnosis of an intermediate case of maple syrup urine disease: A case report.
World journal of clinical casesKnowledge-Based Dietary Intake Recommendations of Nutrients for Pediatric Patients with Maple Syrup Urine Disease.
Healthcare (Basel, Switzerland)Development of a Universal Second-Tier Newborn Screening LC-MS/MS Method for Amino Acids, Lysophosphatidylcholines, and Organic Acids.
Analytical chemistryPPM1K defects cause mild maple syrup urine disease: The second case in the literature.
American journal of medical genetics. Part AA Smart Monitoring System for Self-Nutrition Management in Pediatric Patients with Inherited Metabolic Disorders: Maple Syrup Urine Disease (MSUD).
Healthcare (Basel, Switzerland)Organic acidurias in Egyptian children: The urge for high-risk screening.
Pediatrics international : official journal of the Japan Pediatric SocietyLong-term results of liver transplantation for maple syrup urine disease: A single-center experience in Turkey.
Pediatric transplantationNeonatal maple syrup urine disease case report and literature review.
MedicineLeucine tolerance in children with MSUD is not correlated with plasma leucine levels at diagnosis.
Journal of pediatric endocrinology & metabolism : JPEMHyperammonemia in Russia Due to Carbonic Anhydrase VA Deficiency Caused by Homozygous Mutation p.Lys185Lys (c.555G>A) of the CA5A Gene.
International journal of molecular sciencesIdentification of Clinical Variants beyond the Exome in Inborn Errors of Metabolism.
International journal of molecular sciencesAlternative sources of valine and isoleucine for prompt reduction of plasma leucine in maple syrup urine disease patients: A case series.
JIMD reportsMaple syrup urine disease due to a paracentric inversion of chr 19 that disrupts BCKDHA: A case report.
JIMD reportsBranched-chain amino acids (BCAA) administration increases autophagy and the autophagic pathway in brain tissue of rats submitted to a Maple Syrup Urine Disease (MSUD) protocol.
Metabolic brain diseaseCase report: NAFLD and maple syrup urine disease: Is there an interplay between branched-chain amino acids and fructose consumption?
Frontiers in pediatricsDichloroacetate and thiamine improve survival and mitochondrial stress in a C. elegans model of dihydrolipoamide dehydrogenase deficiency.
JCI insightUtilizing augmented artificial intelligence for aminoacidopathies using collaborative laboratory integrated reporting- A cross-sectional study.
Annals of medicine and surgery (2012)Intestinal Mucormycosis in a Child With Maple Syrup Urine Disease After Orthotopic Liver Transplant.
Experimental and clinical transplantation : official journal of the Middle East Society for Organ TransplantationTeaching NeuroImage: Optic Pathway Involvement in Maple Syrup Urine Disease.
NeurologyOrganic acidemias in the neonatal period: 30 years of experience in a referral center for inborn errors of metabolism.
Journal of pediatric endocrinology & metabolism : JPEMSafety of COVID-19 vaccines in children with inborn errors of metabolism in terms of developing metabolic decompensation.
Journal of paediatrics and child healthCurrent Understanding on the Genetic Basis of Key Metabolic Disorders: A Review.
BiologyQuantification of Branched-Chain Amino Acids in Plasma by High-Performance Liquid Chromatography-Tandem Mass Spectrometry (LC-MS/MS).
Methods in molecular biology (Clifton, N.J.)Intravenous branched-chain amino-acid-free solution for the treatment of metabolic decompensation episodes in Spanish pediatric patients with maple syrup urine disease.
Frontiers in pediatricsExposure to leucine alters glutamate levels and leads to memory and social impairment in zebrafish.
Metabolic brain diseaseIn-Hospital Mortality From Cerebral Edema in MSUD During Newborn Screening Era: What Are We Missing and What More Can We Do?
Pediatric neurologyComparison Between Dichloroacetate and Phenylbutyrate Treatment for Pyruvate Dehydrogenase Deficiency.
British journal of biomedical scienceThe Role of Branched-Chain Amino Acids and Branched-Chain α-Keto Acid Dehydrogenase Kinase in Metabolic Disorders.
Frontiers in nutritionUsability of NewSTEPs Data for Assessing the Characteristics of Infants with Newborn Screening Disorders.
International journal of neonatal screening[Genetic analysis of two Chinese families with maple syrup urine disease].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical geneticsGenomic and biochemical analysis of repeatedly observed variants in DBT in individuals with maple syrup urine disease of Central American ancestry.
American journal of medical genetics. Part ADomino liver transplant from a donor with maple syrup urine disease into a recipient with phenylketonuria.
Molecular genetics and metabolism reportsMaple syrup urine disease decompensation misdiagnosed as a psychotic event.
Molecular genetics and metabolism reportsDomino liver transplantation: Expanding the liver donor pool to the pediatric recipient.
Liver transplantation : official publication of the American Association for the Study of Liver Diseases and the International Liver Transplantation SocietyNeonatal gene therapy achieves sustained disease rescue of maple syrup urine disease in mice.
Nature communications[Disease spectrum analysis of children with inherited metabolic diseases detected by gas chromatography-mass spectrometry of urinary organic acids].
Zhonghua er ke za zhi = Chinese journal of pediatricsPathogenic Homozygous Mutations in the DBT Gene (c.1174A>C) Result in Maple Syrup Urine Disease in a rs12021720 Carrier.
Laboratory medicineQuantitation of non-derivatized free amino acids for detecting inborn errors of metabolism by incorporating mixed-mode chromatography with tandem mass spectrometry.
Journal of mass spectrometry and advances in the clinical labTreatment of COVID-19 in a Patient With Maple Syrup Urine Disease.
CureusMolecular Genetic Screening of Neonatal Intensive Care Units: Hyperbilirubinemia as an Example.
The application of clinical geneticsDevelopment, validation, and uncertainty measurement of HPLC-DAD method for determination of some free amino acids in infant formula and medical food products for inborn errors of metabolism.
Food chemistryA rapid LC-MS/MS assay for detection and monitoring of underivatized branched-chain amino acids in maple syrup urine disease.
Journal of mass spectrometry and advances in the clinical labIntravenous administration of a branched-chain amino-acid-free solution in children and adults with acute decompensation of maple syrup urine disease: a prospective multicentre observational study.
Orphanet journal of rare diseasesPathophysiology of maple syrup urine disease: Focus on the neurotoxic role of the accumulated branched-chain amino acids and branched-chain α-keto acids.
Neurochemistry internationalMachine learning approach identifies meconium metabolites as potential biomarkers of neonatal hyperbilirubinemia.
Computational and structural biotechnology journalClinical diagnosis of metabolic disorders using untargeted metabolomic profiling and disease-specific networks learned from profiling data.
Scientific reportsCoadministration of tianeptine alters behavioral parameters and levels of neurotrophins in a chronic model of Maple Syrup Urine disease.
Metabolic brain diseaseIntegration of an Expression Platform in the SELEX Cycle to Select DNA Aptamer Binding to a Disease Biomarker.
ACS omegaDiagnosis of inborn errors of metabolism within the expanded newborn screening in the Madrid region.
JIMD reportsExposure to leucine induces oxidative stress in the brain of zebrafish.
Metabolic brain disease3.19 Inborn Errors of Metabolism.
World review of nutrition and dieteticsAcute hemodialysis therapy in neonates with inborn errors of metabolism.
Pediatric nephrology (Berlin, Germany)A Gain-of-Function Mutation on BCKDK Gene and Its Possible Pathogenic Role in Branched-Chain Amino Acid Metabolism.
GenesContinuous veno-venous hemodiafiltration in neonates with maple syrup urine disease.
Therapeutic apheresis and dialysis : official peer-reviewed journal of the International Society for Apheresis, the Japanese Society for Apheresis, the Japanese Society for Dialysis TherapyScreening of gene detection of monogenic inherited disorder in an infertile population in Henan Province: an autosomal recessive disorder carried by maple syrup urine disease.
Endokrynologia PolskaKey patient-reported outcomes in children and adolescents with intoxication-type inborn errors of metabolism: an international Delphi-based consensus.
Orphanet journal of rare diseasesInborn error of metabolism patients after liver transplantation: Outcomes of 35 patients over 27 years in one pediatric quaternary hospital.
American journal of medical genetics. Part ADomino liver transplants: where do we stand after a quarter-century? A US national analysis.
HPB : the official journal of the International Hepato Pancreato Biliary AssociationThree novel mutations of the BCKDHA, BCKDHB and DBT genes in Chinese children with maple syrup urine disease.
Journal of pediatric endocrinology & metabolism : JPEMSelective screening for inborn errors of metabolism by tandem mass spectrometry at Sohag University Hospital, Egypt.
Archives de pediatrie : organe officiel de la Societe francaise de pediatrieADHD symptoms in neurometabolic diseases: Underlying mechanisms and clinical implications.
Neuroscience and biobehavioral reviewsCongenital Hyperinsulinism and Maple Syrup Urine Disease: A Challenging Combination.
Journal of clinical research in pediatric endocrinologyAutism spectrum disorder in patients with inherited metabolic disorders-a large sample from a tertiary center.
The Turkish journal of pediatricsScreening for neonatal inherited metabolic disorders by tandem mass spectrometry in Guangzhou.
Zhejiang da xue xue bao. Yi xue ban = Journal of Zhejiang University. Medical sciencesCharacteristics of continuous venovenous hemodiafiltration in the acute treatment of inherited metabolic disorders.
Pediatric nephrology (Berlin, Germany)Surgical technique and the long-term outcomes of pediatric living donor domino liver transplantation from patients with maple syrup urine disease.
Pediatric transplantationThe Effects of a Ketogenic Diet on Patients with Dihydrolipoamide Dehydrogenase Deficiency.
NutrientsAuthor Correction: Genetic analysis by targeted next-generation sequencing and novel variation identification of maple syrup urine disease in Chinese Han population.
Scientific reportsFrequency and status of depression and anxiety in mothers of children with inborn errors of metabolism with restricted diet, with and without risk of metabolic crises.
Archives de pediatrie : organe officiel de la Societe francaise de pediatrieGenetic analysis by targeted next-generation sequencing and novel variation identification of maple syrup urine disease in Chinese Han population.
Scientific reportsMuscle-directed AAV gene therapy rescues the maple syrup urine disease phenotype in a mouse model.
Molecular genetics and metabolismAssociações
Organizações que acompanham esta doença — pra ter apoio e orientação
Ainda não temos associações cadastradas para Doença da urina xarope de bordo.
É de uma associação que acompanha esta doença? Fale com a gente →
Comunidades
Grupos ativos de quem convive com esta doença aqui no Raras
Ainda não existe comunidade no Raras para Doença da urina xarope de bordo
Pacientes, familiares e cuidadores se organizam em comunidades pra compartilhar experiências, fazer perguntas e se apoiar. Você pode ser o primeiro.
Tire suas dúvidas
Perguntas, dicas e experiências compartilhadas aqui na página
Participe da discussão
Faça login para postar dúvidas, compartilhar experiências e interagir com especialistas.
Fazer loginDoenças 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.
- Assessing the nutritional value and health risks of special low‑protein foods: narrative review.
- A risk-based, QTPP-driven framework for semi-solid extrusion 3d printing of personalized medicines: Integrating hospital compounding and clinical trial regulation.European journal of pharmaceutical sciences : official journal of the European Federation for Pharmaceutical Sciences· 2026· PMID 41125146mais citado
- A case of maple syrup urine disease with infantile epileptic spasms syndrome: Challenges in a resource-limited setting.Pediatrics international : official journal of the Japan Pediatric Society· 2026· PMID 41708577mais citado
- Alterations in gut microbiota composition in children with methylmalonic acidemia, propionic acidemia, and maple syrup urine disease.
- A Colorimetric Multimetabolite Assay for Quantitative Measurement of Keto Acids in Urine for At-Home Monitoring of Metabolic Disorders.
- Relationship of Filipino MSUD Children's Nutrient Intake, Nutritional Status, and Leucine Level, and Caregiver's Nutrition Knowledge, Attitudes, and Practices.
- Simplifying supplementation in MSUD: tolerance and acceptability of liquid valine and isoleucine supplements in maple syrup urine disease.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:511(Orphanet)
- MONDO:0009563(MONDO)
- GARD:3228(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Artigo Wikipedia(Wikipedia)
- Q402575(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
