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Other Names for this Disease
- Hyperprolinemia type 1
- Proline hydrogenase deficiency
- Proline oxidase deficiency
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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.Hyperprolinemia is when there is an excess of a particular protein building block (
Last updated: 8/23/2011
- Hyperprolinemia . Genetics Home Reference. June 2007; http://ghr.nlm.nih.gov/condition/hyperprolinemia. Accessed 8/23/2011.
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- 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 an 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.
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