Phenylketonuria causes: Difference between revisions
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__NOTOC__ | __NOTOC__ | ||
{{Phenylketonuria}} | {{Phenylketonuria}} | ||
{{CMG}}; {{AE}} | {{CMG}}; {{AE}} [[User:Yanira Gavidia|Yanira Gavidia, M.D.]] | ||
==Overview== | ==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== | ==Causes== | ||
PKU is caused by mutations in the PAH gene | *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.<ref>PAHvdb, Blau N and Yue W, and Perez B, http://www.biopku.org/pah/</ref><ref name="pmid25757997">{{cite journal| author=Scala I, Concolino D, Casa RD, Nastasi A, Ungaro C, Paladino S et al.| title=Long-term follow-up of patients with phenylketonuria treated with tetrahydrobiopterin: a seven years experience. | journal=Orphanet J Rare Dis | year= 2015 | volume= 10 | issue= 1 | pages= 14 | pmid=25757997 | doi=10.1186/s13023-015-0227-8 | pmc=PMC4351928 | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=25757997 }} </ref> | |||
==References== | ==References== | ||
Revision as of 15:26, 10 June 2015
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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.