Overview
What is phenylketonuria
Phenylketonuria (PKU) is a rare genetic condition caused by the buildup of the amino acid phenylalanine. Amino acids are the building blocks of protein in the body. Phenylalanine is an “essential” amino acid, meaning it is only obtained through the diet. For an individual to inherit PKU, they must inherit a genetic defect from both parents that carries instructions for making the enzyme (phenylalanine hydroxylase) that breaks down phenylalanine. The enzyme may work less than normal or not at all. In PKU, the excess phenylalanine accumulates in the blood and is toxic to the brain. Infants with PKU may not present with symptoms initially, but without treatment could experience severe intellectual disability, seizures, and additional neurologic problems. The goals of treatment in PKU are to enhance enzyme activity and control dietary intake of phenylalanine with a low-phenylalanine diet to prevent the accumulation of phenylalanine.
How common is phenylketonuria
Phenylketonuria affects approximately 1 in every 10,000 newborns in the United States (about 20,000 individuals)1. As a result of newborn screening in all 50 states, PKU cases can be detected shortly after birth and promptly treated to minimize the risk of complications.1
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- 1Genetics home reference. (2012) NIH/NLM. Phenylketonuria. Accessed 9/18/2023 MedLine Plus
Symptoms
What are the symptoms of phenylketonuria
Signs and symptoms of phenylketonuria include, but are not limited to, the following:
- Intellectual disability (if un-treated, or not treated consistently)
- Lighter skin, hair, and eyes than siblings without disease
- Seizures
- Hyperactivity
- Jerking movements of the arms or legs
- Smaller than normal head size
- Red skin rash with small pimples
- Body odor caused by build-up of phenylacetic acid in the urine or sweat
- Vomiting
- Irritability
Medications
Phenylketonuria
The following specialty medication is available at Accredo, a specialty pharmacy for phenylketonuria.
Financing Your Care
Financial assistance is available to support your drug costs including manufacturer and community programs. Accredo specialists are available to assist in finding the right program for you.
- Healthcare enrollment for those without coverage
- Kuvan® - BioMarin RareConnections | 877-MY-KUVAN (877-695-8826)
- Palynziq® - BioMarin RareConnections | 866-906-6100
Financial Guidance
Life-saving specialty medication can be expensive. Learn how the Accredo teams help individuals find ways to afford the medication they need to survive in this video.
Find Support
There are many organizations that support research and advocacy for Phenylketonuria. See below for a few of those organizations.
Support Organizations
Meet the Team
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Why We Do It
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