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Other Names for this Disease
- 4 alpha hydroxy-L-proline oxidase deficiency
- 4-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.
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- The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Hydroxyprolinemia. Click on the link to go to OMIM and review these resources.
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