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Genetic and Rare Diseases Information Center (GARD)

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Hyperprolinemia


Other Names for this Disease

  • Hyperprolinemia type 1
  • Proline hydrogenase deficiency
  • Proline oxidase deficiency
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

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.
Your Questions Answered
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Please contact us with your questions about Hyperprolinemia. We will answer your question and update these pages with new resources and information.

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) 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

  • The 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
  • Hyperprolinemia type 1
  • Proline hydrogenase deficiency
  • Proline oxidase deficiency
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.