Alpha-ketoadipic aciduria, a new inborn error of lysine metabolism; biochemical studies
Publication date
1975
Authors
Przyrembel, Hildegard
Bachmann, Dorothea
Lombeck, Ingrid
Becker, K.
Wendel, U.
Wadman, S.K.
Bremer, H.J.
Editors
Advisors
Supervisors
DOI
Document Type
Article
Metadata
Show full item recordCollections
License
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 metabolites 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).