Last reviewed: November 2017
Last updated: August  2017

Summary

Definition

History and exam

Key diagnostic factors

  • FHx of PKU
  • positive newborn screen for PKU

Other diagnostic factors

  • mental retardation
  • microcephaly
  • eczema
  • light pigmentation of eyes and hair
  • seizures
  • mousy odour of urine

Risk factors

  • FHx of PKU
  • white ancestry

Diagnostic investigations

1st investigations to order

  • newborn screening for metabolic disorders
Full details

Investigations to consider

  • quantitative plasma amino acid analysis
  • blood dihydropteridine reductase (DHPR) assay
  • urine neopterin to biopterin ratio
  • mutation analysis of phenylalanine hydroxylase (PAH) gene
  • tetrahydrobiopterin (BH4)-responsiveness test
Full details

Treatment algorithm

ACUTE

Contributors

Authors VIEW ALL

Professor of Pediatrics

Northwestern University Feinberg School of Medicine

Director

PKU Clinic

Ann and Robert H. Lurie Children’s Hospital of Chicago

Chicago

IL

Disclosures

BKB has received consulting fees for serving on the pegvaliase steering committee, and for giving talks on sapropterin, by BioMarin Pharmaceutical.

Peer reviewers VIEW ALL

Senior Physician in Medicine/Genetics

Children's Hospital Boston

Professor of Pediatrics

Harvard Medical School

Boston

MA

Disclosures

HLL has served on the PKU Scientific Advisory Board for BioMarin Pharmaceuticals Inc. and has received consultation fees from the company for attending meetings, giving lectures, and participating in symposia. BioMarin markets treatment for phenylketonuria.

Professor of Pediatrics

University of Munich

Head of Division of Metabolic Diseases and Nutritional Medicine

Dr von Hauner Children's Hospital

Ludwig-Maximilians-University of Munich

Lindwurmstr

Germany

Disclosures

BK has received research support from Danone Medical Nutrition and is the recipient of a Freedom to Discover Award of the Bristol Myers Squibb Foundation.

Use of this content is subject to our disclaimer