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Phenylketonuria (PKU) - Symptoms and causes - Mayo Clinic
May 13, 2022 · Phenylketonuria (fen-ul-key-toe-NU-ree-uh), also called PKU, is a rare inherited disorder that causes an amino acid called phenylalanine to build up in the body. PKU is …
Phenylketonuria (PKU): Symptoms, Causes & Treatment
Aug 15, 2022 · Phenylketonuria (PKU) is a genetic condition that passes to children from their parents in an autosomal recessive pattern. This means that babies receive one copy of the …
Phenylketonuria (PKU) - NICHD - Eunice Kennedy Shriver ...
Dec 21, 2023 · Phenylketonuria, often called PKU, is caused by phenylalanine hydroxylase (PAH) deficiency. It is an inherited disorder that can cause intellectual and developmental disabilities …
Phenylketonuria - Wikipedia
Phenylketonuria is an inherited genetic disorder. It is caused by mutations in the PAH gene, which can result in inefficient or nonfunctional phenylalanine hydroxylase, an enzyme responsible for …
Phenylketonuria: Causes, Symptoms, and Diagnosis - Healthline
Jul 25, 2017 · Phenylketonuria (PKU) is a rare genetic condition that causes an amino acid called phenylalanine to build up in the body. Amino acids are the building blocks of protein....
Phenylketonuria - NHS
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 acids, which are the "building blocks" of …
Phenylketonuria (PKU) - Children's Hospital of Philadelphia
What is phenylketonuria (PKU)? Phenylketonuria (or PKU) is a rare, inherited disorder that prevents children from breaking down certain amino acids in their bodies. This leads to toxic …