A mixture of alpha-keto acids, the most important of which has been identified as alpha-ketoisocaproic acid, was found to be excreted in large quantities in the urine of beta-methyl-n-valeric acid were present in smaller amounts.
Their excretion would suggest an impairment of the degradative metabolism of the branched-chain amino acids as an important cause of the cerebral degeneration in this condition.
- Received July 22, 1958.
- Accepted August 20, 1958.
- Copyright © 1959 by the American Academy of Pediatrics