Keto Acid Decarboxylase Deficiency

Branched-Chain Ketoaciduria

Branched-Chain alpha-Keto Acid Dehydrogenase Deficiency

Maple Syrup Urine Disease

MSUD (Maple Syrup Urine Disease)

BCKD Deficiency

C0024776

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)

D008375

Maple Syrup Urine Disease

M0013019

DISEASE_KIND

N0000001942

N0000001942

Maple Syrup Urine Disease [Disease/Finding]

27718001

T047