Phenylketonuria causes
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Phenylketonuria Microchapters |
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Diagnosis |
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Treatment |
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Case Studies |
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Phenylketonuria On the Web |
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American Roentgen Ray Society Images of Phenylketonuria |
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Yanira Gavidia, M.D.
Overview
PKU is an autosomal recessive disorder caused by mutations in the PAH gene. The mutation results in a deficiency/absence of the phenylalanine hydroxlyase enzyme that normally catalyzes phenylalanine to tyrosine.
Causes
- PKU is an autosomal recessive disorder caused by mutations in the PAH gene.
- The mutation results in a deficiency/absence of the phenylalanine hydroxlyase enzyme that normally catalyzes phenylalanine to tyrosine.
- To date, 877 mutations have been identified.[1][2]
References
- ↑ PAHvdb, Blau N and Yue W, and Perez B, http://www.biopku.org/pah/
- ↑ Scala I, Concolino D, Casa RD, Nastasi A, Ungaro C, Paladino S; et al. (2015). "Long-term follow-up of patients with phenylketonuria treated with tetrahydrobiopterin: a seven years experience". Orphanet J Rare Dis. 10 (1): 14. doi:10.1186/s13023-015-0227-8. PMC 4351928. PMID 25757997.