Deficient in branched chain a-ketoacid DH
(enzyme requires thiamine!)
Accumulate Leu, Ile, Val
Symptoms:SWEET SMELLING URINE (from Sotolone), metabolic acidosis, optic atrophy , AHDS, axial hypotonia, exertional fatigue, mental retardation, ataxia, hypoglycemia, ↑ liver enz & br-chain AA in serum, abdominal pain