Phenylketonuria (PKU)
- Introduction
- What is phenylketonuria (PKU)?
- How do you get PKU?
- What are the symptoms?
- How it is diagnosed?
- What is the expected outcome?
- Will anyone else in the family get PKU?
- What is the treatment?
- How will my family’s life be changed?
- Can I breastfeed my baby who has just been diagnosed with PKU?
- How expensive are the medical formula and food supplements my child will need?
- Resources
Introduction
What is phenylketonuria (PKU)?
How do you get PKU?
What are the symptoms?
- a musty or "mousy" odor of the body and urine
- developmental delays in sitting, crawling, and standing
- microcephaly (small head size due to decreased brain growth)
- decreased skin and hair pigmentation (due to lack of tyrosine)
- eczema
- seizures
- anxiety, depression, problems with concentration and other aspects of executive function
- profound intellectual disability
How it is diagnosed?
What is the expected outcome?
Will anyone else in the family get PKU?
What is the treatment?
How will my family’s life be changed?
Can I breastfeed my baby who has just been diagnosed with PKU?
How expensive are the medical formula and food supplements my child will need?
Resources
Information & Support
For Parents and Patients
Support
National PKU Alliance
Founded in 2008, this national organization has a mission to improve the lives of those with PKU and to find a cure by funding
research, holding national meetings, and involvement in the medical, scientific and political communities.
Intermountain PKU & Allied Disorders
Founded in 2007 by PKU parents, this locally run non-profit organization delivers newborn kits to newly diagnosed families
in the states of Utah and Colorado, and aims to provide continued support and encouragement from diagnosis through adulthood.
How Much Phe
How Much Phe is an online paid subscription service which provides access to the phenylalanine content of foods as contained
in the Low Protein Food List for PKU and PKUNews.org's Baby Food List. It also offers an option for diet tracking and food
recording.
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.
National PKU News
National PKU News provides resources and support for individuals, families, and clinicians managing PKU (Phenylketonuria)
and other inborn errors of metabolism.
Cook For Love
This website was started by a chef and PKU mother and offers a collection of many delicious low protein recipes. Membership
is free, and required to access recipes/content.
General
PKU Registry
The National PKU Alliance (NPKUA) has created this registry as part of its mission to improve the lives of individuals with
PKU and pursue a cure. It is open to all individuals with PKU. It can be completed by the parent or guardian of the person
with PKU, or by the person with PKU, if they are able.
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.
Phenylketonuria (MedlinePlus)
Excellent, detailed review of condition for patients and families; National Library of Medicine and National Institutes of
Health.
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
Support and information that includes medical lectures on urea cycle disorders, nutrition and medication resources, and information
about events and conferences.
Services for Patients & Families in New Mexico (NM)
Service Categories | # of providers* in: | NM | NW | Other states (5) (show) | | ID | MT | NV | RI | UT |
---|---|---|---|---|---|---|---|---|---|---|
Newborn Screening Services | 2 | 1 | 22 | 4 | 2 | 1 | 3 | |||
Nutrition, Metabolic | 16 | 16 | 16 | 17 | 17 | 18 | 17 | |||
Pediatric Genetics | 4 | 1 | 3 | 7 | 5 | 4 | 7 | |||
Pediatric Metabolics | 1 | 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.