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Diseases

Genetic and Rare Diseases Information Center (GARD)

Hyperprolinemia type 2


Other Names for this Disease
  • 1 alpha pyrroline-5-carboxylate dehydrogenase deficiency
  • Delta1-pyrroline-5-carboxylate dehydrogenase deficiency
  • Hyperprolinemia type 2
  • Type 2 hyperprolinemia
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Overview

Hyperprolinemia type 2 results in an excess of a particular protein building block (amino acid), called proline, in the blood. This condition generally occurs when proline is not broken down properly by the body. Hyperprolinemia type 2 causes proline levels in the blood to be 10 to 15 times higher than normal, and it also causes high levels of a related compound called pyrroline-5-carboxylate. Some people with this condition develop mild mental retardation and seizures; however, the symptoms of this disorder vary in severity among affected individuals.[1]
Last updated: 11/1/2013

References

  1. Hyperprolinemia. Genetics Home Reference Website . June 2007; http://ghr.nlm.nih.gov/condition=hyperprolinemia. Accessed 11/3/2008.
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Basic Information

  • Genetics Home Reference (GHR) contains information on Hyperprolinemia type 2. This website is maintained by the National Library of Medicine.
  • The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.

In Depth Information

  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Hyperprolinemia type 2. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • 1 alpha pyrroline-5-carboxylate dehydrogenase deficiency
  • Delta1-pyrroline-5-carboxylate dehydrogenase deficiency
  • Hyperprolinemia type 2
  • Type 2 hyperprolinemia
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.