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Diseases

Genetic and Rare Diseases Information Center (GARD)

Hyperprolinemia


Other Names for this Disease
  • Proline oxidase deficiency
  • Proline hydrogenase deficiency
  • Hyperprolinemia type 1
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Overview

Hyperprolinemia is when there is 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. There are two inherited forms: hyperprolinemia type 1 and hyperprolinemia type 2. People with hyperprolinemia type I often do not show any symptoms, although they have proline levels in their blood between 3 and 10 times the normal level. Less commonly, affected individuals can experience seizures, intellectual disability, or other neurological or psychiatric problems. Hyperprolinemia is caused by mutations in the PRODH gene and is inherited in an autosomal recessive pattern.[1]
Last updated: 8/23/2011

References

  1. Hyperprolinemia . Genetics Home Reference. June 2007; http://ghr.nlm.nih.gov/condition/hyperprolinemia. Accessed 8/23/2011.
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Basic Information

  • Genetics Home Reference (GHR) contains information on Hyperprolinemia. This website is maintained by the National Library of Medicine.
  • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

In Depth Information

  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • 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. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Proline oxidase deficiency
  • Proline hydrogenase deficiency
  • Hyperprolinemia type 1
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.