Fenylketonurie (PKU)
- Article
- 2021-03-02
Phenylketonuria (pronounced fen-l-kee-toh-NOOR-ee-uh), often referred to as PKU, is caused by phenylalanine hydroxylase (PAH) deficiency. It is an inherited condition that can cause intellectual and developmental disabilities (IDDs) if not treated. In PKU, the body cannot process part of a protein called phenylalanine (pronounced fen-l-AL-uh-no), which is in all foods that contain proteins. High levels of phenylalanine can cause brain damage. PAH deficiency causes a spectrum of conditions, including PKU, non-PKU hyperphenylalaninaemia and variant PKU. Classic PKU is caused by a complete or almost complete lack of PAH. All children born in U.S. hospitals are routinely screened for PKU shortly after birth, making it easier to diagnose and treat affected children early. And pregnant women can request prenatal testing to determine if their fetus is at risk for PKU. The NICHD, other branches of the NIH, and various scientific organizations continue to work to better understand, diagnose, and treat PKU. Since its inception, NICHD has played a key role in PKU-related research, supporting studies of the safety and effectiveness of a restricted diet to treat PKU and prevent PKU-related IDD. In recent years, NICHD supported areas of research have included maternal PKU, long-term management of the condition and potential new treatments such as gene therapy. Common name PKU Medical or scientific names Phenylketonuria Folling disease PAH deficiency Phenylalanine Hydroxylase (pronounced hahy-DROK-suh-leys) Deficiency Disease
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