Living with Phenylketonuria
An inherited condition in which the body can't break down phenylalanine, an amino acid from food, so it builds up in the blood.
Understanding Phenylketonuria
Phenylalanine is a protein building block found in foods such as meat, eggs, nuts, and milk. Without treatment, it can build up to harmful levels and cause intellectual disability and other serious health problems. Signs range from mild to severe, and the most severe form is called classic PKU. GARD says PKU can often be managed with a diet low in phenylalanine.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Intellectual disability (without treatment)
- Delays in development
- Seizures
- Behavior problems
- Musty or mouse-like odor
- Lighter skin and hair, and eczema
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include brain and nervous system specialists, genetic specialists and seizure and epilepsy specialists.
- 3Consider genetic testing
Changes in PAH are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
National PKU Alliance and Epilepsy Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Genetic specialists (geneticists); Seizure and epilepsy specialists (epileptologist)
- Expert care
- Expert lists: National PKU Alliance, Epilepsy Foundation
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with National PKU Alliance and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
Changes in the PAH gene cause this condition. It is autosomal recessive, which means a child inherits a changed copy of the gene from each parent.
Also known as: folling disease; hyperphenylalaninemia, non-pku mild; oligophrenia phenylpyruvica; pah (phenylalanine hydroxylase) deficiency; pah deficiency; pah-gene related phenylketonuria
Patient organizations
- National PKU AlliancePhenylketonuria · United States
- flokPhenylketonuria · United States
- Epilepsy FoundationEpilepsy · United States
You are more than your diagnosis
Perspectives from people navigating life with Phenylketonuria.
Explore research for Phenylketonuria
Explore actively recruiting Phenylketonuria studies with HealthSpark.
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- Recruiting studies from ClinicalTrials.gov
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- Eligibility is confirmed by the study team
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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