Phenylketonuria (PKU)
- Introduction
- What is phenylketonuria (PKU) and what causes it?
- What are the symptoms of PKU?
- How it is diagnosed?
- What is the prognosis?
- What is the risk for other family members or future babies?
- What treatments/therapies/medications are recommended or available?
- How will my child and our family be impacted?
- Can I breastfeed my baby who has just been diagnosed with PKU?
- How expensive is Lofenalac and the other special supplements my child will need?
- Resources
Introduction
What is phenylketonuria (PKU) and what causes it?
What are the symptoms of PKU?
- a musty or "mousy" odor of the body and urine
- developmental delays in sitting, crawling, and standing
- microcephaly
- decreased skin and hair pigmentation (due to lack of tyrosine)
- eczema
- seizures
- profound intellectual disability
How it is diagnosed?
What is the prognosis?
What is the risk for other family members or future babies?
What treatments/therapies/medications are recommended or available?
How will my child and our family be impacted?
Can I breastfeed my baby who has just been diagnosed with PKU?
How expensive is Lofenalac and the other special supplements my child will need?
Resources
Information & Support
For Parents and Patients
Support
Support for Rare Diseases (BioMarin)
Information with a special section for teens. Provides a clinic finder and a recipe section: BioMarin is a pharmaceutical
company.
PKU Listserv
Share ideas and concerns with other PKU parents; login required.
General
Children's PKU Network
A non-profit organization that provides a free “newborn express pack” of information to help parents with newly a diagnosed
child; provides links to food/formula suppliers, as well as links to many other related sites.
National PKU News
Includes information on diet, research, legislation, and support groups; provides a newsletter 3 times a year; and provides
links to other resources and organizations.
Newborn Screening Disorder Information for Families
From the Utah Newborn Screening Program, this page lists 24 documents for families on different disorders that are screened
including cystic fibrosis; biotinidase; galactosemia; organic acid disorders; amino acid disorders including PKU; fatty acid
oxidation disorders; congenital adrenal hyperplasia; congenital hypothyroidism; sickle cell; sickle cell trait (carrier);
Hb C; Hb D; Hb E; Hb C, D, or E trait (carrier); FABarts—alpha thalassemia syndrome; and unidentified hemoglobin trait (carrier).
Phenylketonuria (Genetics Home Reference)
Excellent, detailed review of condition for patients and families; sponsored by the U.S. National Library of Medicine.
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 - 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.
Support for Rare Diseases (BioMarin)
Information with a special section for teens. Provides a clinic finder and a recipe section: BioMarin is a pharmaceutical
company.
Genetics in Primary Care Institute (AAP)
Contains health supervision guidelines and other useful resources for the care of children with genetic disorders; American
Academy of Pediatrics.
National Urea Cycle Disorders Foundation
This non-profit organization gives support and information that includes medical lectures on urea cycle disorders, nutrition
and medication resources, and information about events and conferences.
Patient Education
What is Phenylketonuria? (GSLC)
A brief educational overview of single gene disorders that includes the genetics of Phenylketonuria (PKU); Genetic Science
Learning Center at the University of Utah.
Services for Patients & Families in Montana (MT)
Service Categories | # of providers* in: | MT | NW | Other states (5) (show) | | ID | NM | NV | RI | UT |
---|---|---|---|---|---|---|---|---|---|---|
Newborn Screening Services | 5 | 2 | 24 | 3 | 3 | 2 | 4 | |||
Nutrition, Metabolic | 2 | 1 | 2 | |||||||
Pediatric Genetics | 7 | 1 | 4 | 3 | 3 | 4 | 6 | |||
Pediatric Metabolics | 1 | 1 | 2 | 2 |
For services not listed above, browse our Services categories or search our database.
* number of provider listings may vary by how states categorize services, whether providers are listed by organization or individual, how services are organized in the state, and other factors; Nationwide (NW) providers are generally limited to web-based services, provider locator services, and organizations that serve children from across the nation.