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Wilson, R.W. et al.

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

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.[1]

References

Alpha-ketoadipic aciduria: a description of a new metabolic error in lysine-tryptophan degradation. Wilson, R.W., Wilson, C.M., Gates, S.C., Higgins, J.V. Pediatr. Res. (1975) [Pubmed]

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