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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 receive treatment at a medical center that specializes in the disorder (Visit the Resources section for ways to locate a center ) The PKU Diet People with PKU need to follow a diet that limits foods with phenylalanine The diet should be followed carefully and be started
Phenylketonuria (PKU) - NICHD - Eunice Kennedy Shriver National . . . 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 body can’t process a portion of a protein called phenylalanine, which is in all foods containing protein High levels of phenylalanine can cause brain damage PAH deficiency
What causes phenylketonuria (PKU)? | NICHD - NICHD - Eunice Kennedy . . . 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 substances the body needs When this gene, known as the PAH gene, is defective, the body cannot break down phenylalanine
How do health care providers diagnose phenylketonuria (PKU)? 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 newborns get screened for PKU In addition to the United States, many other countries routinely screen infants for PKU 1
Phenylketonuria (PKU) Resources | NICHD - NICHD - Eunice Kennedy . . . 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 topics related to PKU Orphanet This international website maintains, updates, and develops information about rare diseases and orphan drugs
Other Phenylketonuria (PKU) FAQs | NICHD - NICHD - Eunice Kennedy . . . 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 (FAQs) specific to PKU are in this section
Phenylketonuria (PKU) and Newborn Screening - NICHD 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 newborns, causes intellectual disability, seizures, and deafness In 1939, research showed that PKU was an inherited disorder that resulted from the body's inability to break down
NIH Consensus Statement | NICHD - NICHD - Eunice Kennedy Shriver . . . 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 Statement Phenylketonuria: Screening and Management
Brief History of Newborn Screening | NICHD - NICHD - Eunice Kennedy . . . 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 Dr Robert Guthrie for the metabolic disorder phenylketonuria (PKU) 1