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Genetic and Rare Diseases Information Center (GARD)

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Hydroxyprolinemia


Other Names for this Disease

  • 4 alpha hydroxy-L-proline oxidase deficiency
  • 4-hydroxy-L-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

Hydroxyprolinemia is an inherited metabolic condition characterized by elevated levels of the 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.[1][2]
Last updated: 8/10/2011

References

  1. Hydroxyprolinemia. Online Mendelian Inheritance of Man (OMIM). September 2010; http://omim.org/entry/237000. Accessed 8/10/2011.
  2. 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.
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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. 
  • 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.
Other Names for this Disease
  • 4 alpha hydroxy-L-proline oxidase deficiency
  • 4-hydroxy-L-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.