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Disease Maple Syrup Urine Disease

Name Maple Syrup Urine Disease
Synonyms BCKD Deficiency | Branched Chain alpha Keto Acid Dehydrogenase Deficiency | Branched-Chain alpha-Keto Acid Dehydrogenase Deficiency | Branched Chain Ketoaciduria | Branched-Chain Ketoaciduria | Branched-Chain Ketoacidurias | Classical Maple Syrup Urine Disease | Classic Maple Syrup Urine Disease | Intermediate Maple Syrup Urine Disease | Intermittent Maple Syrup Urine Disease | Keto Acid Decarboxylase Deficiency | KETO ACID DECARBOXYLASE DEFICIENCY MAPLE SYRUP URINE DISEASE, CLASSIC, INCLUDED | Ketoaciduria, Branched-Chain | Ketoacidurias, Branched-Chain | Maple Syrup Urine Disease, Classic | Maple Syrup Urine Disease, Classical | Maple Syrup Urine Disease, Intermediate | MAPLE SYRUP URINE DISEASE, INTERMEDIATE, INCLUDED | Maple Syrup Urine Disease, Intermittent | MAPLE SYRUP URINE DISEASE, INTERMITTENT, INCLUDED | MAPLE SYRUP URINE DISEASE, MILD VARIANT | Maple Syrup Urine Disease, Thiamine Responsive | Maple Syrup Urine Disease, Thiamine-Responsive | MAPLE SYRUP URINE DISEASE, THIAMINE-RESPONSIVE, INCLUDED | MAPLE SYRUP URINE DISEASE, TYPE IA, INCLUDED | MAPLE SYRUP URINE DISEASE, TYPE IB, INCLUDED | MAPLE SYRUP URINE DISEASE, TYPE II, INCLUDED | MSUD | MSUD1A, INCLUDED | MSUD1B, INCLUDED | MSUD2, INCLUDED | MSUD (Maple Syrup Urine Disease) | MSUDMV | Thiamine Responsive Maple Syrup Urine Disease
Definition An autosomal recessive inherited disorder with multiple forms of phenotypic expression, caused by a defect in the oxidative decarboxylation of branched-chain amino acids (AMINO ACIDS, BRANCHED-CHAIN). These metabolites accumulate in body fluids and render a 'maple syrup' odor. The disease is divided into classic, intermediate, intermittent, and thiamine responsive subtypes. The classic form presents in the first week of life with ketoacidosis, hypoglycemia, emesis, neonatal seizures, and hypertonia. The intermediate and intermittent forms present in childhood or later with acute episodes of ataxia and vomiting. (From Adams et al., Principles of Neurology, 6th ed, p936)
Categories Genetic disease (inborn) | Metabolic disease | Nervous system disease
MeSH® ID D008375
OMIM® IDs 248600 | 615135
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1. DiseasesNervous System Diseases Has associated chemicals Has associated genes Has associated exposure references Central Nervous System Diseases Has associated chemicals Has associated genes Has associated exposure references Brain Diseases Has associated chemicals Has associated genes Has associated exposure references Brain Diseases, Metabolic Has associated chemicals Has associated genes Brain Diseases, Metabolic, Inborn Has associated chemicals Has associated genes Maple Syrup Urine Disease Has associated chemicals Has associated genes
2. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Genetic Diseases, Inborn Has associated chemicals Has associated genes Has associated exposure references Metabolism, Inborn Errors Has associated chemicals Has associated genes Has associated exposure references Amino Acid Metabolism, Inborn Errors Has associated chemicals Has associated genes Has associated exposure references Maple Syrup Urine Disease Has associated chemicals Has associated genes
3. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Genetic Diseases, Inborn Has associated chemicals Has associated genes Has associated exposure references Metabolism, Inborn Errors Has associated chemicals Has associated genes Has associated exposure references Brain Diseases, Metabolic, Inborn Has associated chemicals Has associated genes Maple Syrup Urine Disease Has associated chemicals Has associated genes
4. DiseasesNutritional and Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Brain Diseases, Metabolic Has associated chemicals Has associated genes Brain Diseases, Metabolic, Inborn Has associated chemicals Has associated genes Maple Syrup Urine Disease Has associated chemicals Has associated genes
5. DiseasesNutritional and Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolism, Inborn Errors Has associated chemicals Has associated genes Has associated exposure references Amino Acid Metabolism, Inborn Errors Has associated chemicals Has associated genes Has associated exposure references Maple Syrup Urine Disease Has associated chemicals Has associated genes
6. DiseasesNutritional and Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolism, Inborn Errors Has associated chemicals Has associated genes Has associated exposure references Brain Diseases, Metabolic, Inborn Has associated chemicals Has associated genes Maple Syrup Urine Disease Has associated chemicals Has associated genes

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Maple Syrup Urine Disease Has associated chemicals Has associated genes
  Lactic Acidosis, Congenital Infantile, Due To LAD Deficiency Has associated chemicals Has associated genes
  Maple Syrup Urine Disease, E3 Deficient, with Lactic Acidosis
  Maple syrup urine disease, type 1A
  Maple syrup urine disease, type 1B
  Maple syrup urine disease, type 2