Type 2 hyperprolinemia: absence of delta1-pyrroline-5-carboxylic acid dehydrogenase activity.
triangle up(1)-Pyrroline-5-carboxylic acid dehydrogenase activity was measured radioisotopically in normal and type 2 hyperprolinemia fibroblasts. The type 2 cells had no detectable activity over a range of reaction conditions whereas normal cells had easily measurable activity. This enzymatic defect accounts for the biochemical abnormalities in type 2 hyperprolinemia.
D000293:Adolescent; D000592:Amino Acid Metabolism, Inborn Errors / Q000201:enzymology*; D002250:Carbon Radioisotopes; D002264:Carboxylic Acids / Q000378:metabolism; D002675:Child, Preschool; D005260:Female; D005347:Fibroblasts / Q000201:enzymology; D005971:Glutamates / Q000378:metabolism; D006801:Humans; D008297:Male; D009243:NAD / Q000378:metabolism; D009952:Ornithine / Q000378:metabolism; D010088:Oxidoreductases / Q000378:metabolism*; D011392:Proline / Q000096:biosynthesis / Q000097:blood* / Q000378:metabolism; D011758:Pyrroles / Q000378:metabolism
D002250:Carbon Radioisotopes; D002264:Carboxylic Acids; D005971:Glutamates; D011758:Pyrroles; D009243:NAD; D011392:Proline; D009952:Ornithine; D010088:Oxidoreductases