Phenylketonuria (PKU) - Symptoms and causes - Mayo Clinic
WEBMay 13, 2022 · Phenylketonuria (fen-ul-key-toe-NU-ree-uh), also called PKU, is a rare inherited disorder that causes an amino acid called phenylalanine to build up in the body. PKU is caused by a change in the phenylalanine hydroxylase (PAH) gene. This gene helps create the enzyme needed to break down phenylalanine.
Phenylketonuria (PKU): Symptoms, Causes & Treatment - Cleveland Clinic
WEBAug 15, 2022 · Phenylketonuria is a genetic condition where levels of phenylalanine build up in your body. If left untreated, phenylketonuria can affect a person’s cognitive development. Treatment with medications and/or dietary changes help reduce symptoms.
Phenylketonuria (PKU) - Diagnosis and treatment - Mayo Clinic
WEBMay 13, 2022 · Symptoms & causes. Diagnosis & treatment. Diagnosis. Newborn screening identifies almost all cases of phenylketonuria. All 50 states in the United States require newborns to be screened for PKU. Many other countries …
Phenylketonuria - NHS
WEBPhenylketonuria (PKU) is a rare but potentially serious inherited disorder. Our bodies break down the protein in foods, such as meat and fish, into amino acids, which are the "building blocks" of protein. These amino acids are then used to make our own proteins. Any amino acids that are not needed are broken down further and removed from the body.
Home - The National Society for Phenylketonuria (NSPKU)
WEBPhenylketonuria (PKU) is a rare metabolic disorder. People with PKU cannot metabolise phenylalanine, an amino acid found in protein foods. More about PKU. PKU dietary updates and news. Support NSPKU. More about Campaigning. For more information use our Contact page or helpline: 030 3040 1090.
Phenylketonuria - Wikipedia
WEBPhenylketonuria ( PKU) is an inborn error of metabolism that results in decreased metabolism of the amino acid phenylalanine. [3] . Untreated PKU can lead to intellectual disability, seizures, behavioral problems, and mental disorders. [1] [7] It may also result in a musty smell and lighter skin. [1] .
Phenylketonuria: Causes, Symptoms, and Diagnosis - Healthline
WEBJul 25, 2017 · Phenylketonuria (PKU) is a rare genetic condition that causes an amino acid called phenylalanine to build up in the body. Amino acids are the building blocks of protein. Phenylalanine is found in...
Phenylketonuria (PKU) Disease - Verywell Health
WEBAug 27, 2022 · Phenylketonuria (fen-ul-keetone-YU-ree-ah, or PKU) is an inherited metabolic disorder in which the body cannot completely break down the protein (amino acid) phenylalanine. This happens because a necessary enzyme, phenylalanine hydroxylase, is deficient. Because of this, phenylalanine builds up in the body’s cells and causes …
Phenylketonuria (PKU) - NICHD - Eunice Kennedy Shriver National ...
WEBMay 15, 2012 · Phenylketonuria, often called PKU, 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. If the phenylalanine level gets too high, the brain can become damaged.
Phenylketonuria - StatPearls - NCBI Bookshelf
WEBAug 8, 2023 · Phenylketonuria (PKU) is an inborn error of metabolism (IEM) most often caused by missense mutations in the gene encoding phenylalanine hydroxylase (PAH), which catalyzes the hydroxylation of phenylalanine (Phe) to generate tyrosine (Tyr).