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.
Phenylketonuria - Wikipedia
WEBPhenylketonuria (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 .
Phenylketonuria (PKU): Symptoms, Causes & Treatment - Cleveland Clinic
WEBAug 15, 2022 · Phenylketonuria (PKU) is a genetic condition that causes elevated levels of a substance called phenylalanine to build up in your body. Phenylalanine is found in the body as part of normal biochemical pathways, but problems arise when levels are persistently higher than normal.
Phenylketonuria: MedlinePlus Genetics
WEBPhenylketonuria (PKU) is an inherited disorder that increases the levels of phenylalanine in the blood. Explore symptoms, inheritance, genetics of this condition.
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 (see Figure 1) the hydroxylation …
Phenylketonuria - NHS
WEBFind out about phenylketonuria (PKU), a rare genetic condition that's present from birth (congenital), where the body is unable to break down phenylalanine.
Phenylketonuria (PKU): Practice Essentials, Background, …
WEBPhenylketonuria (PKU), the most common inborn error of amino acid metabolism, results from an impaired ability to metabolize the essential amino acid phenylalanine. Deficiency of the...
Phenylketonuria (PKU) - Diagnosis and treatment - Mayo Clinic
WEBMay 13, 2022 · A PKU test is done a day or two after your baby's birth. For accurate results, the test is done after your baby is 24 hours old and after your baby has had some protein in the diet. A nurse or lab technician collects a few drops of …
Phenylketonuria | PKU | MedlinePlus
WEBNov 22, 2016 · In phenylketonuria (PKU), your body can't process phenylalanine, an amino acid in most foods. Read about genetics, screening, and special diets.
Phenylketonuria (PKU) - Children's Health Issues - MSD Manuals
WEBPhenylketonuria (PKU) is a disorder that causes a buildup of the amino acid phenylalanine, which is an essential amino acid (one that cannot be made in the body but must be consumed in food). Excess phenylalanine is normally converted to tyrosine, another amino acid, and eliminated from the body.
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