2022年5月13日 · 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 caused by a change in the phenylalanine hydroxylase (PAH) gene.

2022年8月15日 · 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 mutated gene that causes PKU from each parent during conception.

2023年12月21日 · Phenylketonuria, often called PKU, is caused by phenylalanine hydroxylase (PAH) deficiency. It is an inherited disorder that can cause intellectual and developmental disabilities (IDDs) if not treated. In PKU, the body can’t process a portion of a protein called phenylalanine, which is in all foods containing protein.

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 the metabolism of excess phenylalanine. This results in the buildup of dietary phenylalanine to potentially toxic levels.

2017年7月25日 · 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 (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 protein.

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 levels of phenylalanine and a dangerously low level of tyrosine.