Succinic semialdehyde dehydrogenase deficiency.
A coupled assay using [14C]4-aminobutyric acid and a direct assay using [14C]succinic semialdehyde have been designed to assay te activity of succinic semialdehyde dehydrogenase in a patient with 4-hydroxybutyric aciduria and family members. In the coupled assay less than 3% of control succinic semialdehyde dehydrogenase activity was found in lysates of lymphocytes isolated from whole blood of the patient. In the direct assay there was no detectable activity of the enzyme in lysates of isolated lymphocytes or cultured lymphoblasts. Results indicated the parents to be heterozygous carriers carriers of the abnormal gene, consistent with an autosomal recessive inheritance.
D000328:Adult; D002250:Carbon Radioisotopes; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D006884:Hydroxybutyrate Dehydrogenase / Q000097:blood / Q000172:deficiency*; D006885:Hydroxybutyrates / Q000652:urine*; D008214:Lymphocytes / Q000201:enzymology; D008297:Male; D008661:Metabolism, Inborn Errors / Q000097:blood / Q000378:metabolism*; D012978:Sodium Oxybate / Q000134:cerebrospinal fluid / Q000652:urine*
D002250:Carbon Radioisotopes; D006885:Hydroxybutyrates; D012978:Sodium Oxybate; D006884:Hydroxybutyrate Dehydrogenase; C019416:4-hydroxybutyrate dehydrogenase