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 …

May 15, 2012 · Phenylketonuria (PKU) Phenylketonuria, often called PKU, is caused by phenylalanine hydroxylase (PAH) deficiency. It is an inherited disorder that can cause …

Phenylketonuria (PKU) is an inherited disorder that can cause intellectual and developmental disabilities (IDDs) if not treated.

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 …

Jun 22, 2012 · What if my newborn tests positive for PKU? If your newborn’s screening test comes back positive for PKU, your child will need additional tests to confirm that they definitely …

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 …

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 …

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 …

May 15, 2012 · Other Phenylketonuria (PKU) FAQs Basic information for topics, such as “What is it?” is available in the About Phenylketonuria (PKU) section. Answers to other frequently asked …

Apr 3, 2017 · 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 …