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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 bod...
Phenylketonuria (PKU) is an inherited disorder that can cause intellectual and developmental disabilities (IDDs) if not treated.
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 s...
How do health care providers diagnose phenylketonuria (PKU)? Nearly all cases of PKU are diagnosed through a blood test done on newborns. 1 Newborn Screening for PKU All 50 U.S. states and territories require that new...
What causes phenylketonuria (PKU)? PKU is caused by mutations in the gene that helps make an enzyme called phenylalanine hydroxylase, or PAH. This enzyme is needed to convert the amino acid phenylalanine into other su...
May 1, 2024 · The PKU entry in OMIM, which is an online catalog of human genes and genetic disorders published by Johns Hopkins University School of Medicine, covers clinical management, population genetics, and other...
Effective, Low-Cost Screening of Newborns Eliminates a Major Cause of Intellectual Disability In 1934, Norwegian doctor Asbjörn Fölling discovered phenylketonuria (PKU), a rare disease that, if left untreated in newbo...
NICHD supports and conducts research on a wide range of topics related to PKU and other metabolic disorders. Research areas include newborn screening, healthy fetal development in pregnant women with PKU, and the path...
The content in this publication was accurate at the time it was published, but it is not being updated. The item is provided for historical purposes only. National Institutes of Health Consensus Development Conference...
PKU was the first condition for which a screening test was developed, and the first condition for which widespread newborn testing was implemented in the 1960s. If PKU is left untreated, the Phe builds up in the body ...
