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

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

Dec 21, 2023 · What are common treatments for phenylketonuria (PKU)? PKU has no cure, but treatment can prevent intellectual disabilities and other health problems. 1 A person with PKU should …

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 …

Jun 22, 2012 · 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. …

May 1, 2024 · Maternal Phenylketonuria International Study This article, which appeared in Pediatrics in 2003, reviews health outcomes for women and their children based on an 18-year study on the …

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 questions …

Phenylketonuria (PKU) and Newborn Screening Effective, Low-Cost Screening of Newborns Eliminates a Major Cause of Intellectual Disability In 1934, Norwegian doctor Asbjörn Fölling discovered …

Feb 20, 2012 · NICHD has been at the forefront of newborn screening efforts since the 1960s. One of the Institute's earliest research successes was validation of the mass screening test developed by …

The Advisory Committee on Heritable Disorders in Newborns and Children (ACHDNC) issues a Recommended Universal Screening Panel (RUSP) that identifies a number of core …