Home > Diagnoses & Conditions > Phenylketonuria (PKU)
Phenylketonuria (PKU)
Overview
Phenylketonuria is an autosomal recessive disorder caused by a deficiency of the enzyme phenylalanine hydroxylase. This enzyme deficiency causes a build-up of phenylalanine and decreased levels of tyrosine (which is made from phenylalanine by phenylalanine hydroxylase). Patients with phenylketonuria may develop seizures and intellectual disabilities, which can be prevented or controlled by a special diet low in phenylalanine.Resources
Information & Support
For Professionals
Utah Newborn Screening Program
The site provides information and statistics about the program and related legislation, training for practices, and the conditions
screened for.
PKU info for professionals (STAR-G)
From the Screening, Technology and Research in Genetics (STAR-G) program, one of a series of Disorder Fact Sheets for Professionals;
structured list of information about the condition, with links to more information.
PKU (GeneReviews)
Excellent review by John J. Mitchell, MD and Charles R. Scriver, MD including clinical description, differential, management,
genetic counseling, molecular genetics, and a bibliography.
Intermountain Healthcare Clinical Genetics Institute
provides clinical medical genetics services and genetic couseling at two outreach clinics in Salt Lake City and Logan.
PKU - Intial Diet Checklist
(
14 KB)
Checklist for providers to assess family readiness to deal with shopping and cooking for PKU management.
PKU - Weight Log
( 26 KB)
Log form for providers to track the weight of a patient with PKU.
For Parents and Patients
Support
PKU Listserv
Share ideas and concerns with other PKU parents.
National PKU News
Includes information on diet, research, legislation, and support groups; provides a newsletter three times a year; and provides
links to other resources and organizations.
General
Utah Newborn Screening Program - Phenylketonuria (PKU)
Information for parents and professionals about PKU.
PKU info for parents (STAR-G)
From the Screening, Technology and Research in Genetics (STAR-G) program, providing information for parents about PKU and
links to other sites including parent support groups.
PKU (Genetics Home Reference)
Excellent, detailed review aimed at patients and families from the National Library of Medicine's Genetics Home Reference
site.
PKU Toolkit
From the New England Consortium of Metabolic Programs, this toolkit provides information for youth, families, families, and
providers to help people with PKU have a better life. Information includes transition topics and resources; PKU overview;
diet information; insurance information; lifestyle tips including traveling and college tips; information for pregnant women;
and other resources and links.
PKU (MedlinePlus)
From the National Library of Medicine, a brief overview of PKU and links to other organizations with more information including
nutrition information; a babysitter's guide; drugs containing phenylalanine; FAQs; tutorials; clinical trials; journal articles;
support organizations; and more.
PKU info, Mayo Clinic
Provides information and resources including an overview of PKU; treatment information; coping strategies; and links to related
organizations.
PKU Primer for Adolescents and Adults (NECMP)
Information about PKU for patients, including inheritance, maintaining a healthy diet, handling school/work, and pregnancy;
from the New England Consortium of Metabolic Programs.
Children's PKU Network
A non-profit organization that provides a free “newborn express pack” of information to help parents with newly diagnosed
child; provides links to food/formula suppliers, as well as links to many other related sites.
National Society for Phenylketonuria
UK-based site with general information; booklets that address specific aspects of PKU; and links to other organizations, products/foods,
and member sites.
PKU - Cooking Experience
( 22 KB)
Checklist for skills for cooking such as trying different meals.
PKU - How am I doing now?
( 22 KB)
Checklist for skills such as cooking and monitoring PKU levels.
PKU - Diet Goals
( 13 KB)
Form to write and track goals for a PKU diet.
Practice Guidelines
Hellekson KL.
NIH consensus statement on phenylketonuria.
Am Fam Physician.
2001;63(7):1430-2.
PubMed abstract / Full Text
Services
Newborn Screening Programs
Utah Newborn Screening Program,
more info...
44 Mario Capecchi Drive
Salt Lake City, UT 84114
Phone: 801-584-8256
Fax: 801-536-0966
http://health.utah.gov/newbornscreening
Pediatric Medical Genetics
See all Pediatric Medical Genetics services providers (3) in our database.
For other services related to this condition, browse our Services categories or search our database.
Helpful Articles
PubMed Search on Phenylketonuria
American Academy of Pediatrics Committee on Genetics.
American Academy of Pediatrics: Maternal phenylketonuria.
Pediatrics.
2001;107(2):427-8.
PubMed abstract / Full Text
Kaye CI, Accurso F, La Franchi S, Lane PA, Hope N, Sonya P, G Bradley S, Michele A LP.
Newborn screening fact sheets.
Pediatrics.
2006;118(3):e934-63.
PubMed abstract / Full Text
Poustie VJ, Rutherford P.
Dietary interventions for phenylketonuria.
Cochrane Database Syst Rev.
2000;(2):CD001304.
PubMed abstract
Poustie VJ, Rutherford P.
Tyrosine supplementation for phenylketonuria.
Cochrane Database Syst Rev.
2000;(2):CD001507.
PubMed abstract
Rutherford P, Poustie VJ.
Protein substitute for children and adults with phenylketonuria.
Cochrane Database Syst Rev.
2005;(4):CD004731.
PubMed abstract
Schulze A, Lindner M, Kohlmuller D, Olgemoller K, Mayatepek E, Hoffmann GF.
Expanded newborn screening for inborn errors of metabolism by electrospray ionization-tandem mass spectrometry: results, outcome,
and implications.
Pediatrics.
2003;111(6 Pt 1):1399-406.
PubMed abstract