Maple Syrup Urine Disease (MSUD). Intermediate type. Branched-chain ketoacid dehydrogenase complex deficiency (3 units). Enzyme activity 2 to 40% of controls.
Incidence
Very rare.
Clinical Characteristics
Mental retard, seizures,ataxia, intermittent or progressive disease with near normal BCAA and BCKA in between. Attacks are precipitated by high protein load and intercurrent infections. There is typical odor of the urine, modest anemia and occasionally hyperuricemia.
Precipitants
High protein load and intercurrent infections, inmunizations.
Provocation Tests
no
Diagnostic Procedures
2,4,dinitrophenylhydrazine urine test positive, ferric chloride occas. navy blue mainly during attacks. EB(W,F)