FAMILIAL HYPERPROLINEMIA. REPORT OF A SECOND CASE, ASSOCIATED WITH CONGENITAL RENAL MALFORMATIONS, HEREDITARY HEMATURIA AND MILD MENTAL RETARDATION, WITH DEMONSTRATION OF AN ENZYME DEFECT.
D050842:1-Pyrroline-5-Carboxylate Dehydrogenase / Q000172:deficiency; D000592:Amino Acid Metabolism, Inborn Errors; D000594:Amino Acid Oxidoreductases; D001769:Blood; D002555:Cerebrospinal Fluid; D002648:Child; D004796:Clinical Enzyme Tests; D000013:Congenital Abnormalities; D005826:Genetics, Medical; D006417:Hematuria; D006801:Humans; D008607:Intellectual Disability; D007674:Kidney Diseases; D009394:Nephritis, Hereditary; D011392:Proline; D011394:Proline Oxidase; D014556:Urine
D011392:Proline; D050842:1-Pyrroline-5-Carboxylate Dehydrogenase; D000594:Amino Acid Oxidoreductases; D011394:Proline Oxidase
ABNORMALITIES; AMINO ACID METABOLISM, INBORN ERRORS; AMINOACID OXIDOREDUCTASES; BLOOD; CEREBROSPINAL FLUID; CHILD; ENZYME TESTS; GENETICS, HUMAN; HEMATURIA; KIDNEY DISEASES; MENTAL RETARDATION; PROLINE; URINE