title: Alpha-ketoadipic aciduria: degradation studies with fibroblasts,.
abstract: Observation of one patient with alpha-ketoadipic aciduria initiated degradation studies with radiolabelled lysine metabolites in fibroblasts in order to localise the metabolic defect. Liberation of 14-CO-2 from alpha-D,L-(1-14-C) aminoadipate and alpha-(1-14-C) ketoadipate was considerably less in the patient's fibroblasts than in the patient's fibroblasts than in normal controls, whereas 14-CO-2 production from (1,5-14-C) glutarate was in the normal range. These results indicate a defect in the oxidative decarboxylation of alpha-ketoadipate as the probable cause of alpha-ketoadipic aciduria; Cultured amniotic fluid cells from pregnancies of the 15th and 16th week of gestation degrade alpha-(1-14-C) ketoadipate with a similar activity to fibroblast cultures from normal humans after birth.
mesh_terms: D000272:Adipates / Q000378:metabolism*; D000592:Amino Acid Metabolism, Inborn Errors / Q000378:metabolism*; D002478:Cells, Cultured; D005260:Female; D005347:Fibroblasts / Q000378:metabolism*; D006801:Humans; D007651:Keto Acids / Q000378:metabolism*; D007656:Ketoglutaric Acids / Q000378:metabolism; D007700:Kinetics; D008239:Lysine / Q000378:metabolism*; D011247:Pregnancy; D013997:Time Factors
chemical_list: D000272:Adipates; D007651:Keto Acids; D007656:Ketoglutaric Acids; D008239:Lysine