Hyperprolinemia type 2
Other Names for this Disease
- 1 alpha pyrroline-5-carboxylate dehydrogenase deficiency
- Type 2 hyperprolinemia
- Hyperprolinemia type 2
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mental retardation and seizures; however, the symptoms of this disorder vary in severity among affected individuals.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
Last updated: 11/1/2013
- Hyperprolinemia. Genetics Home Reference Website . June 2007; http://ghr.nlm.nih.gov/condition=hyperprolinemia. Accessed 11/3/2008.
- 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) 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.
- 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 type 2. Click on the link to view a sample search on this topic.