Phenylketonuria causes

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.

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[1] PAHvdb, Blau N and Yue W, and Perez B, http://www.biopku.org/pah/

[pmid25757997-2] 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.

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Phenylketonuria causes

Overview

Causes

References

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