Maple Syrup Urine Disease


BCKD Deficiency

Branched Chain Ketoaciduria

Branched Chain alpha Keto Acid Dehydrogenase Deficiency

Branched-Chain Ketoaciduria

Branched-Chain Ketoacidurias

Branched-Chain alpha-Keto Acid Dehydrogenase Deficiency

Classic Maple Syrup Urine Disease

Classical Maple Syrup Urine Disease

Intermediate Maple Syrup Urine Disease

Intermittent Maple Syrup Urine Disease

Keto Acid Decarboxylase Deficiency

Ketoaciduria, Branched-Chain

Ketoacidurias, Branched-Chain

MSUD (Maple Syrup Urine Disease)

Maple Syrup Urine Disease, Classic

Maple Syrup Urine Disease, Classical

Maple Syrup Urine Disease, Intermediate

Maple Syrup Urine Disease, Intermittent

Maple Syrup Urine Disease, Thiamine Responsive

Maple Syrup Urine Disease, Thiamine-Responsive

Thiamine Responsive Maple Syrup Urine Disease

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)