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)

Descriptor ID	D008375
MeSH Number(s)	C10.228.140.163.100.520 C16.320.565.100.608 C16.320.565.189.520 C18.452.132.100.520 C18.452.648.100.608 C18.452.648.189.520
Concept/Terms	Maple Syrup Urine Disease Maple Syrup Urine Disease Keto Acid Decarboxylase Deficiency Branched-Chain alpha-Keto Acid Dehydrogenase Deficiency Branched Chain alpha Keto Acid Dehydrogenase Deficiency Branched-Chain Ketoaciduria Branched Chain Ketoaciduria Branched-Chain Ketoacidurias Ketoaciduria, Branched-Chain Ketoacidurias, Branched-Chain MSUD (Maple Syrup Urine Disease) Intermediate Maple Syrup Urine Disease Intermediate Maple Syrup Urine Disease Maple Syrup Urine Disease, Intermediate Maple Syrup Urine Disease, Thiamine Responsive Maple Syrup Urine Disease, Thiamine Responsive Thiamine Responsive Maple Syrup Urine Disease Intermittent Maple Syrup Urine Disease Intermittent Maple Syrup Urine Disease Maple Syrup Urine Disease, Intermittent Classic Maple Syrup Urine Disease Classic Maple Syrup Urine Disease Maple Syrup Urine Disease, Classic Maple Syrup Urine Disease, Classical Classical Maple Syrup Urine Disease

Below are MeSH descriptors whose meaning is more general than "Maple Syrup Urine Disease".

Below are MeSH descriptors whose meaning is related to "Maple Syrup Urine Disease".

Below are MeSH descriptors whose meaning is more specific than "Maple Syrup Urine Disease".