Phenylketonuria
Also called: PKU
A birth defect that causes an amino acid called phenylalanine to build up in the body.
- Chronic: can last for years or be lifelong
- Treatment can help, but this condition can't be cured
- Requires a medical diagnosis
- Lab tests or imaging always required
Untreated PKU can lead to brain damage, intellectual disabilities, behavioral symptoms, or seizures.
Very rare: Fewer than 20,000 US cases per year
Consult a doctor for medical advice
Sources: Mayo Clinic and others. Learn more
People also ask
What are 5 symptoms of PKU?
How does PKU affect melanin?
What is the life expectancy of a person with phenylketonuria?
What is the phenylalanine syndrome?
May 13, 2022 · A musty odor in the breath, skin or urine, caused by too much phenylalanine in the body; Nervous system (neurological) problems that may include ...
Apr 25, 2023 · Phenylketonuria (commonly known as PKU) is an inherited disorder that increases the levels of a substance called phenylalanine in the blood.
Phenylketonuria is a rare genetic condition that causes a buildup of amino acids in your body that leads to challenges with cognitive development if not ...
Phenylketonuria (PKU) is a rare but potentially serious inherited disorder. Our bodies break down the protein in foods, such as meat and fish, into amino ...
Jan 16, 2024 · Phenylketonuria, often called PKU, is caused by phenylalanine hydroxylase (PAH) deficiency. It is an inherited disorder that can cause ...
Phenylketonuria (PKU) is a genetically determined metabolic disorder that is highly treatable with diet and supplements. It is an inherited disease in which ...
Nov 17, 2023 · Phenylketonuria (PKU) is an inborn error of metabolism that can be diagnosed during the first days of life with routine newborn screening. PKU ...
May 13, 2022 · PKU is caused by a change in the gene that helps create an enzyme needed to break down phenylalanine. Treatment includes a special diet and ...
Phenylketonuria (PKU) is an inborn error of metabolism that results in decreased metabolism of the amino acid phenylalanine. Untreated PKU can lead to ...
Phenylketonuria (also called PKU) is a condition in which your body can't break down an amino acid called phenylalanine. Amino acids help build protein in ...
For Your Patients With Phenylketonuria. For Healthcare Professionals Only. Co-Pay Assistance Program. View Prescribing Info. Video Resources.