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.

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 …

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.

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.

PKU is a recessive disorder which occurs in about one in 10,000 to 15,000 live births and is caused by a deficiency of the enzyme phenylalanine hydroxylase. This enzyme normally converts phenylalanine (present in dietary protein) to tyrosine. Infants …

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.

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.

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.

Phenylketonuria (PKU) is an inherited metabolic disorder that prevents the body from being able to break down the amino acid phenylalanine. If children born with PKU are not treated, phenylalanine in the blood can rise to levels that are harmful to the brain, interfering with brain development and causing intellectual disability.