Biochemical studies on a variant of branched chain ketoaciduria in a 19-year-old female
Fischer, M.H.; Gerritsen, T.
Pediatrics 48(5): 795-801
1971
ISSN/ISBN: 0031-4005 PMID: 5125877 Document Number: 42933
A woman 19 years old in good health and with IQ 76 had 233 mg branched-chain alpha -keto acids in 24-h urine when on a normal diet. Values increased when she was given large amounts of meat and milk. There was no maple syrup odour in urine. Branched-chain alpha -keto acid dehydrogenase activity was very low as in classical branched-chain ketoaciduria.