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  • Alpha-ketoadipic aciduria, a new inborn error of lysine metabolism; biochemical studies.

Alpha-ketoadipic aciduria, a new inborn error of lysine metabolism; biochemical studies.

Clinica chimica acta; international journal of clinical chemistry (1975-02-08)
H Przyrembel, D Bachmann, I Lombeck, K Becker, U Wendel, S K Wadman, H J Bremer
PMID1112064
ABSTRACT

Investigation of a psychomotorically retarded girl showed excretion of abnormal amounts of alpha-ketoadipic acid, alpha-hydroxyadipic acid, alpha-aminoadipic acid, 1,2-butenedicarboxylic acid and elevation of plasma alpha-aminoadipic acid levels. The identity of these metabolities was established by various methods. The excretion of alpha-aminoadipic acid correlated to the lysine intake. Degradation studies with cultured fibroblasts indicate a defect in the oxidative decarboxylation of alpha-ketoadipic acid (see Clin. Chim. Acta, 58 (1975) 271.