The severe form of type I hyperprolinaemia results from homozygous inactivation of the PRODH gene

J Med Genet. 2003 Jan;40(1):e7. doi: 10.1136/jmg.40.1.e7.
No abstract available

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amino Acid Metabolism, Inborn Errors / enzymology
  • Amino Acid Metabolism, Inborn Errors / etiology
  • Amino Acid Metabolism, Inborn Errors / genetics
  • Child, Preschool
  • Chromosome Deletion
  • Chromosome Mapping / methods
  • Chromosomes, Human, Pair 22 / genetics
  • Consanguinity
  • Homozygote*
  • Humans
  • Male
  • Phenotype
  • Proline / blood*
  • Proline / metabolism*
  • Proline Oxidase / deficiency
  • Proline Oxidase / genetics*
  • Proline Oxidase / metabolism

Substances

  • Proline
  • Proline Oxidase

Associated data

  • OMIM/192430
  • OMIM/239500
  • OMIM/239510