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Phenylketonuria (PKU) - Symptoms and causes - Mayo Clinic
https://www.mayoclinic.org/diseases-conditions/phenylketonuria/symptoms-causes/syc-20376302
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.
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Phenylketonuria (PKU): Symptoms, Causes & Treatment - Cleveland Clinic
https://my.clevelandclinic.org/health/diseases/17816-phenylketonuria
WebPhenylketonuria (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 …
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Phenylketonuria (PKU) - Diagnosis and treatment - Mayo Clinic
https://www.mayoclinic.org/diseases-conditions/phenylketonuria/diagnosis-treatment/drc-20376308
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 …
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Phenylketonuria - Wikipedia
https://en.m.wikipedia.org/wiki/Phenylketonuria
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. It may also result in a musty smell and lighter skin.
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Phenylketonuria (PKU) - Diagnosis - Mayo Clinic
https://www.mayoclinic.org/diseases-conditions/phenylketonuria/diagnosis-treatment/diagnosis/dxc-20376303
WebMay 13, 2022 · PKU is caused by a change in the gene that helps create an enzyme needed to break down phenylalanine. Treatment includes a special diet and medication. Learn more about services at Mayo Clinic.
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Phenylketonuria: Causes, Symptoms, and Diagnosis - Healthline
https://www.healthline.com/health/phenylketonuria
WebJul 25, 2017 · Phenylketonuria (PKU) Symptoms. Causes. Diagnosis. Treatments. In pregnancy. Outlook. Prevention. What is phenylketonuria? Phenylketonuria (PKU) is a rare genetic condition that causes an...
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Phenylketonuria (PKU) - NICHD - Eunice Kennedy Shriver …
https://www.nichd.nih.gov/health/topics/factsheets/pku
WebMay 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 (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.
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Phenylketonuria: MedlinePlus Genetics
https://medlineplus.gov/genetics/condition/phenylketonuria/
WebPhenylketonuria (commonly known as PKU) is an inherited disorder that increases the levels of a substance called phenylalanine in the blood. Phenylalanine is a protein building block ( an amino acid) that is obtained from eating certain foods (such as meat, eggs, nuts, and milk) and in some artificial sweeteners.
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Phenylketonuria - About the Disease - Genetic and Rare …
https://rarediseases.info.nih.gov/diseases/7383/phenylketonuria/
WebPhenylketonuria (PKU) is a genetic metabolic disorder that increases the body's levels of phenylalanine. Phenylalanine is one of the building blocks (amino acids) of proteins. Humans cannot make phenyalanine, but it is a natural part of the foods we eat.
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Phenylketonuria | PKU | MedlinePlus
https://medlineplus.gov/phenylketonuria.html
WebNov 22, 2016 · Phenylketonuria (PKU) is a type of amino acid metabolism disorder. It is inherited. If you have it, your body can't process phenylalanine (Phe). Phe is an amino acid, a building block of proteins. It is in almost all foods. If your Phe level gets too high, it can damage your brain and cause severe intellectual disability.
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