Phenylketonuria causes: Difference between revisions
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==Causes== | ==Causes== | ||
PKU is caused by mutations in the PAH gene, that are inherited in an autosomal recessive pattern, 877 mutations have been identified<ref>PAHvdb, Blau N and Yue W, and Perez B, http://www.biopku.org/pah/</ref>, and they cause a deficiency of the phenylalanine hydroxylase enzyme.<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 06:05, 25 May 2015
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Phenylketonuria Microchapters |
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Phenylketonuria On the Web |
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief:
Overview
Causes
PKU is caused by mutations in the PAH gene, that are inherited in an autosomal recessive pattern, 877 mutations have been identified[1], and they cause a deficiency of the phenylalanine hydroxylase enzyme.[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.