Phenylketonuria causes
|
Phenylketonuria Microchapters |
|
Diagnosis |
|---|
|
Treatment |
|
Case Studies |
|
Phenylketonuria On the Web |
|
American Roentgen Ray Society Images of Phenylketonuria |
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.