Elevated phenylalanine levels can be caused by defects in the synthesis or recycling of tetrahydrobiopterin, an essential co-factor of phenylalanine hydroxylase. Since tetrahydrobiopterin is also a cofactor of other enzymes involved in neurotransmitter synthesis, at-risk patients need to be identified as soon as possible to start appropriate therapy.
Initial symptoms may include:
- A musty or "mousy" odor of the body and urine
- Developmental delays in sitting, crawling, and standing
- Decreased skin and hair pigmentation (due to lack of tyrosine)
- Profound mental retardation
- Contact the family and evaluate the infant for any concerning symptoms.
- Provide urgent treatment/referral for any significant symptoms or seizures. See the ACT Sheet for PKU (ACMG) ( 351 KB) for additional information.
- Confirm the diagnosis, work with the following service(s): see all Newborn Screening Programs services providers (3) in our database;
- Evaluate and continue ongoing collaborative management, consult the following service(s): Pediatric Medical Genetics , (801-213-3599); See also Services below.
- Educate the family about signs, symptoms, and the need for urgent care if the infant becomes ill (see PKU Information - Information for Parents (STAR-G)).
- Support initiation and maintenance of phenylalanine-restricted diet and supplementation of tyrosine and essential amino acids.
- Avoid the sugar substitute aspartame ("NutraSweet," "Equal," "Sweet Mate," and Canderel") in diet drinks and medications.
- Perform regular blood and urine tests to monitor Phe levels and diet as indicated.
- Assist in management of irreversible consequences as necessary, particularly with developmental and educational interventions.
- See the Portal’s diagnosis and management module for PKU and Pterin Defects.
PKU - Information for Professionals
Structured list of information about the condition, with links to more information; Screening, Technology, and Research in Genetics.
ACT Sheet for PKU (ACMG) ( 351 KB)
Contains short-term recommendations for clinical follow-up of the newborn who has screened positive; American College of Medical Genetics.
Confirmatory Algorithm for PKU (ACMG) ( 73 KB)
Resource for clinicians to help confirm diagnosis; American College of Medical Genetics.
Excellent review by John J. Mitchell, MD and Charles R. Scriver, MD including clinical description, differential, management, genetic counseling, molecular genetics, and a bibliography.
Utah Newborn Screening Program - PKU (UDOH)
Information for parents and professionals about PKU; Utah Department of Health.
Genetics in Primary Care Institute (AAP)
The goal of this site is to increase collaboration in the care of children with known or suspected genetic disorders. Includes health supervision guidelines and other useful resources; a collaboration among the Health Resources & Services Administration, the Maternal and Child Health Bureau, and the American Academy of Pediatrics.
Utah Newborn Screening Program (UDOH)
Provides information about the program, related legislation, training for practices, and newborn conditions; Utah Department of Health.
Share ideas and concerns with other PKU parents; login required.
PKU Information - Information for Parents (STAR-G)
A fact sheet, written by a genetic counselor and reviewed by metabolic and genetic specialists, for families who have received an initial diagnosis of a newborn disorder; Screening, Technology and Research in Genetics.
PKU (Genetics Home Reference)
Excellent, detailed review of condition for patients and families; sponsored by the U.S. National Library of Medicine.
National Urea Cycle Disorders Foundation
This non-profit organization provides support services and information for families; medical lectures on urea cycle disorders; nutrition and medication resources; and information about events and conferences.
What is Phenylketonuria (PKU)? (GSLC)
A brief educational overview of the genetics of phenylketonuria (PKU) from the Genetic Science Learning Center at the University of Utah.
See all Newborn Screening Programs services providers (3) in our database.
See all Pediatric Genetics services providers (5) in our database.
For other services related to this condition, browse our Services categories or search our database.
|Author:||Nicola Longo, MD, PhD - 12/2015|
|Content Last Updated:||12/2015|
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