Abstract
Extract: Our studies of a mentally retarded male with extremely elevated levels of α-aminoadipic acid and α-ketoadipic acid in his urine have led to the description of a new metabolic defect, α-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.
Speculation: The presence of elevated levels of α-ketoadipate in the urine of the reported sibs suggests a reduced level of α-ketoadipic acid dehydrogenase. This enzyme has not been purified in humans, but is considered to be α-ketoglutaric acid dehydrogenase in several nonhuman animals. We are presenting evidence that would suggest that in humans these may be separate enzymes, or that more than one form of the α-ketoglutaric acid dehydrogenase exists.
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Wilson, R., Wilson, C., Gates, S. et al. α-Ketoadipic Aciduria: A Description of a New Metabolic Error in Lysine-Tryptophan Degradation. Pediatr Res 9, 522–526 (1975). https://doi.org/10.1203/00006450-197506000-00002
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DOI: https://doi.org/10.1203/00006450-197506000-00002
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