Phenylketonuria (or PKU) is a rare, inherited disorder that prevents children from breaking down certain amino acids in their bodies. This leads to toxic levels of phenylalanine and a dangerously low level of tyrosine.

Nov 17, 2024 · Phenylketonuria (PKU) is a rare but serious inherited metabolic disorder. It occurs in individuals who lack the enzyme phenylalanine hydroxylase, which is necessary for converting the amino acid phenylalanine into tyrosine. Without this enzyme, phenylalanine accumulates in the blood and brain to toxic levels.

A child is at risk for PKU if his or her parents each have 1 faulty PAH gene. PKU affects 1 out of every 10,000 to 15,000 newborns born in the U.S. What are the symptoms of PKU in a child? If a baby is not tested and has undiagnosed PKU, he or …

Feb 1, 2025 · What is phenylketonuria (PKU) in children? Phenylketonuria (PKU) is a rare metabolic disorder. Children with PKU can’t process an amino acid called phenylalanine. Phenylalanine is in many common foods. It helps the body make protein. It's …

Phenylketonuria (fen-ul-kee-tuh-NUR-ee-uh), or PKU, is a metabolic disorder that some babies are born with. It's caused by a defect in the enzyme that breaks down the amino acid phenylalanine. Newborn babies in the United States have their blood tested for PKU as part of newborn screening.

Phenylketonuria (PKU) is an inborn error of protein metabolism. It’s a rare disease, and children who are born with PKU inherit it from their parents. PKU prevents the body from being able to properly break down proteins — specifically phenelalanine found in protein.

May 13, 2022 · Newborn screening identifies almost all cases of phenylketonuria. All 50 states in the United States require newborns to be screened for PKU. Many other countries also routinely screen infants for PKU. If you have PKU or a family history of it, your health care provider may recommend screening tests before pregnancy or birth.

Apr 6, 2025 · A child with PKU may look normal and completely healthy for the first few months of life. Signs and symptoms may appear between 3 to 6 months of age. Your child may be less active and develop more slowly than other children.

May 15, 2012 · Children with untreated PKU appear healthy at birth. But by 3 to 6 months of age, they begin to lose interest in their surroundings. By age 1, children are developmentally delayed and their skin has less pigmentation than that of someone without the condition.

Dec 21, 2023 · PKU has no cure, but treatment can prevent intellectual disabilities and other health problems. 1 A person with PKU should receive treatment at a medical center that specializes in the disorder. (Visit the Resources section for ways to locate a center.) People with PKU need to follow a diet that limits foods with phenylalanine.