Hyperprolinemia Type I


Hyperprolinemia type I (HPI, proline oxidase deficiency) is caused by mutation in the proline dehydrogenase gene (PRODH), which codes for proline dehydrogenase (proline oxidase). This enzyme converts proline to delta-1-pyrroline-5-carboxylate. A defect in proline dehydrogenase causes accumulation of proline in plasma, and glycine, hydroxyproline, and proline in urine. Symptoms include mental retardation, renal cysts, and seizures.

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References

  1. OMIM: Entry 239500
  2. Metagene: id_d=219
  3. Afenjar A, Moutard ML, Doummar D, Guet A, Rabier D, Vermersch AI, Mignot C, Burglen L, Heron D, Thioulouse E, de Villemeur TB, Campion D, Rodriguez D: Early neurological phenotype in 4 children with biallelic PRODH mutations. Brain Dev. 2007 Oct;29(9):547-52. Epub 2007 Apr 6. Pubmed
  4. Campbell HD, Webb GC, Young IG: A human homologue of the Drosophila melanogaster sluggish-A (proline oxidase) gene maps to 22q11.2, and is a candidate gene for type-I hyperprolinaemia. Hum Genet. 1997 Nov;101(1):69-74. Pubmed
  5. Goodman BK, Rutberg J, Lin WW, Pulver AE, Thomas GH: Hyperprolinaemia in patients with deletion (22)(q11.2) syndrome. J Inherit Metab Dis. 2000 Dec;23(8):847-8. Pubmed