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Reliable, easy-to-read patient information on common medical conditions — written in plain language, free of jargon, and grounded in current evidence. Browse the most frequent diagnoses, understand what they mean for everyday life, and learn which steps and questions help you have a focused conversation with your doctor.

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Phenylketonuria causes

Introduction

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 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

References

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

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Yanira Gavidia, M.D.