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 …

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 …

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 · 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 …

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 …

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 …

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

Phenylketonuria in Britain: genetic analysis gives a historical perspective of the disorder but will it predict the future for affected individuals? J Clin Pathol: Mol Pathol 1997;50, 169-174.

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 …