Harvard Catalyst Profiles

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)

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".