Maple Syrup Urine Disease (MSUD). Intermittent type. Branched-chain ketoacid dehydrogenase complex deficiency (3 units).
Incidence
Rare
Clinical Characteristics
Drowsiness, behavior disturbances, seizures, ataxia, intermittent with near normal BCAA and BCKA in between attacks. Attacks are precipitated by inmunizations and intercurrent infections and other forms of stress. Patient looks normal in between episodes. During acute episodes of metabolic acidosis, the odor of urine is typical. The attacks have their first appearance between 6 and 9 months of age.
Precipitants
Any stress, 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). Tandem MS may discover the BBAA