Beta-ketothiolase deficiency in a family confirmed by in vitro enzymatic assays in fibroblasts.
D000102:Acetyl-CoA C-Acyltransferase / Q000172:deficiency*; D000138:Acidosis / Q000150:complications; D000217:Acyltransferases / Q000172:deficiency*; D000328:Adult; D002648:Child; D005347:Fibroblasts / Q000201:enzymology*; D005998:Glycine / Q000031:analogs & derivatives / Q000652:urine; D006801:Humans; D006885:Hydroxybutyrates / Q000652:urine; D008297:Male; D008661:Metabolism, Inborn Errors / Q000175:diagnosis
D006885:Hydroxybutyrates; C003603:tiglylglycine; C016579:2-methyl-3-hydroxybutyric acid; D000217:Acyltransferases; D000102:Acetyl-CoA C-Acyltransferase; D005998:Glycine