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. 1975 Jun;9(6):522-6.
doi: 10.1203/00006450-197506000-00002.

Alpha-ketoadipic aciduria: a description of a new metabolic error in lysine-tryptophan degradation

R W Wilson, C M Wilson, S C Gates, J V Higgins

Alpha-ketoadipic aciduria: a description of a new metabolic error in lysine-tryptophan degradation

R W Wilson et al. Pediatr Res. 1975 Jun.

Abstract

Our studies of a mentally retarded male with extremely elevated levels of alpha-aminoadipic acid and alpha-ketoadipic acid in his urine have led to the description of a new metabolic defect, alpha-ketoadipic aciduria. Analysis of the urine and serum from the patient's family revealed that the patient (KW) had a mentally and physically normal sister (CW) with the same metabolites elevated, but the rest of the family appeared normal.

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