Hyperprolinemia Type II
Hyperprolinemia (prolinemia Type II, HPII, prolinuria) is caused by mutation in the pyrroline-5-carboxylate dehydrogenase gene (P5CDH), which encodes pyrroline-5-carboxylate dehydrogenase. This enzyme assists in the metabolism of pyrroline-5-carboxylate, converting it to the amino acid glutamine. The conversion between proline and glutamine, and the reverse reaction controlled by different enzymes, are essential factors required to maintain proper metabolism and protein production. A defect in this enyzme causes accumulation of proline in plasma; ornithine in serum; and glycine, hydroxyproline and proline in urine. Symptoms include mental retardation, acute and chronic renal failure and seizures.
- OMIM: Entry 239510
- Metagene: id_d=240
- Emery FA, Goldie L, Stern J: Hyperprolinaemia type 2. J Ment Defic Res. 1968 Sep;12(3):187-95. Pubmed
- Flynn MP, Martin MC, Moore PT, Stafford JA, Fleming GA, Phang JM: Type II hyperprolinaemia in a pedigree of Irish travellers (nomads). Arch Dis Child. 1989 Dec;64(12):1699-707. Pubmed
- Geraghty MT, Vaughn D, Nicholson AJ, Lin WW, Jimenez-Sanchez G, Obie C, Flynn MP, Valle D, Hu CA: Mutations in the Delta1-pyrroline 5-carboxylate dehydrogenase gene cause type II hyperprolinemia. Hum Mol Genet. 1998 Sep;7(9):1411-5. Pubmed