Other Names for this Disease
- 4-hydroxy-L-proline oxidase deficiency
- 4 alpha hydroxy-L-proline oxidase deficiency
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amino acid hydroxyproline in the blood and urine. This condition usually does not cause physical or cognitive abnormalities. Hydroxyprolinemia was initially described in association with intellectual disabilities; however it has also been reported in cognitively normal individuals and is thus thought to be begnin. Hydroxyprolinemia is thought to be an autosomal recessive condition.Hydroxyprolinemia is an inherited metabolic condition characterized by elevated levels of the
Last updated: 8/10/2011
- Hydroxyprolinemia. Online Mendelian Inheritance of Man (OMIM). September 2010; http://omim.org/entry/237000. Accessed 8/10/2011.
- Kim SZ, Varvogli L, Waisbren SE, Levy HL.. Hydroxyprolinemia: Comparison of a patient and her unaffected twin sister. J Pediatrics. 1997; 130(3):437-41. http://www.ncbi.nlm.nih.gov/pubmed/9063421. Accessed 8/10/2011.
On this page
- 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.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Hydroxyprolinemia. Click on the link to view a sample search on this topic.