Familial hyperprolinemia, cerebral dysfunction and renal anomalies occurring in a family with hereditary nephropathy and deafness.
D050842:1-Pyrroline-5-Carboxylate Dehydrogenase / Q000172:deficiency; D000592:Amino Acid Metabolism, Inborn Errors; D001921:Brain; D001927:Brain Diseases; D003638:Deafness; D006801:Humans; D007674:Kidney Diseases / Q000235:genetics*; D011394:Proline Oxidase
D050842:1-Pyrroline-5-Carboxylate Dehydrogenase; D011394:Proline Oxidase
BRAIN/diseases; KIDNEY DISEASES/genetics