- Inherited disorder of metabolismPKU is an inherited disorder of metabolism that causes an increase in the blood of a chemical known as phenylalanine1. It is characterized by absence or deficiency of an enzyme called phenylalanine hydroxylase (PAH), responsible for processing the amino acid phenylalanine2. Children with PKU are born without the enzyme needed to break down phenylalanine3. Untreated PKU can lead to intellectual disability, seizures, behavioral problems, and mental disorders4. PKU can be diagnosed during the first days of life with routine newborn screening2.Learn more:✕This summary was generated using AI based on multiple online sources. To view the original source information, use the "Learn more" links.What is phenylketonuria (PKU)? Phenylketonuria (PKU) is an inherited disorder of metabolism that causes an increase in the blood of a chemical known as phenylalanine. Phenylalanine comes from a person's diet and is used by the body to make proteins. Phenylalanine is found in all food proteins and in some artificial sweeteners.www.genome.gov/Genetic-Disorders/PhenylketonuriaPhenylketonuria (PKU) is an inborn error of metabolism that can be diagnosed during the first days of life with routine newborn screening. PKU is characterized by absence or deficiency of an enzyme called phenylalanine hydroxylase (PAH), responsible for processing the amino acid phenylalanine.rarediseases.org/rare-diseases/phenylketonuria/What is phenylketonuria (PKU)? Phenylketonuria is a hereditary metabolic disorder. Children with PKU are born without the enzyme needed to break down phenylalanine. Phenylalanine is an amino acid (the building blocks of proteins) in many foods and drinks. Normally, your body breaks down and gets rid of extra phenylalanine.www.merckmanuals.com/home/quick-facts-childre…Phenylketonuria (PKU) is an inborn error of metabolism that results in decreased metabolism of the amino acid phenylalanine. Untreated PKU can lead to intellectual disability, seizures, behavioral problems, and mental disorders. It may also result in a musty smell and lighter skin.en.wikipedia.org/wiki/Phenylketonuria
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See all on WikipediaPhenylketonuria - Wikipedia
Phenylketonuria (PKU) is an inborn error of metabolism that results in decreased metabolism of the amino acid phenylalanine. Untreated PKU can lead to intellectual disability, seizures, behavioral problems, and mental disorders. It may also result in a musty smell and lighter skin. A baby born to a mother … See more
Untreated PKU can lead to intellectual disability, seizures, behavioral problems, and mental disorders. It may also result in a musty smell and lighter skin. A baby born to a mother who … See more
When phenylalanine (Phe) cannot be metabolized by the body, a typical diet that would be healthy for people without PKU causes abnormally high levels of Phe to accumulate in the … See more
The average number of new cases of PKU varies in different human populations. United States Caucasians are affected at a rate of 1 in 10,000. Turkey has the highest … See more
PKU is an autosomal recessive metabolic genetic disorder. As an autosomal recessive disorder, two PKU alleles are required for an … See more
PKU is commonly included in the newborn screening panel of many countries, with varied detection techniques. Most babies born in Europe, … See more
PKU is not curable. However, if PKU is diagnosed early enough, an affected newborn can grow up with normal brain development by managing and controlling phenylalanine … See more
Wikipedia text under CC-BY-SA license Phenylketonuria (PKU) - Symptoms and causes - Mayo Clinic
WebMay 13, 2022 · PKU is a rare inherited disorder that causes phenylalanine to build up in the body and can lead to serious health problems. Learn about the symptoms, …
Hvad er PKU? » PKU Forening Danmark
WebHvad er PKU? PKU er det samme som Phenylketonuri og Føllings syge. I Danmark fødes der årligt 5-6 børn med PKU. PKU er en stofskiftedefekt. Stofskiftedefekten kaldes …
PKU (Føllings sygdom) - Netdoktor
WebDec 4, 2020 · PKU, der også hedder phenylketonuri eller Føllings sygdom, er én blandt mange sygdomme, som opstår som følge af defekter i nedbrydningsvejene for …
Sygdommen PKU (Phenylketonuri) - Rigshospitalet
WebPKU er en medfødt sygdom, der skyldes en defekt af leverenzymet, phenylalanin hydroxylase, der normalt omdanner aminosyren phenylalanin, phe, til aminosyren …
Phenylketonuria (PKU): Symptoms, Causes & Treatment
WebAug 15, 2022 · PKU is a genetic condition that causes high levels of phenylalanine in the body, which can affect cognitive development. Learn about the types, diagnosis, …
Forside » PKU Forening Danmark
WebVelkommen til PKU Foreningen for Danmark. Vi er en patientforening for alle, der har PKU, der er pårørende til en med PKU og alle, der har interesse for PKU. …
Phenylketonuria: MedlinePlus Genetics
WebPKU is an inherited disorder that affects the metabolism of phenylalanine, a protein building block. Learn about the symptoms, causes, inheritance, and treatment of PKU …
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), …
Phenylketonuria (PKU) | Boston Children's Hospital
WebPKU is a genetic disorder that affects the metabolism of phenylalanine, an amino acid. Learn about the symptoms, causes, diagnosis, treatment and outlook of PKU from …
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