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.
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- 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.
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