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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 - Wikipedia
https://en.wikipedia.org/wiki/Phenylketonuria
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] .
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Phenylketonuria (PKU): Symptoms, Causes & Treatment
https://my.clevelandclinic.org/health/diseases/17816-phenylketonuria
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.
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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) - Diagnosis and treatment - Mayo Clinic
https://www.mayoclinic.org/diseases-conditions/phenylketonuria/diagnosis-treatment/drc-20376308
WEBMay 13, 2022 · Request an Appointment. 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 also routinely screen infants for PKU.
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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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About Phenylketonuria - National Human Genome Research …
https://www.genome.gov/Genetic-Disorders/Phenylketonuria
WEBAug 21, 2014 · 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.
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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 | PKU | MedlinePlus
https://medlineplus.gov/phenylketonuria.html
WEBNov 22, 2016 · Summary. 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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Quick Facts:Phenylketonuria (PKU) - Merck Manual Consumer …
https://www.merckmanuals.com/home/quick-facts-children-s-health-issues/hereditary-metabolic-disorders/phenylketonuria-pku
WEBQUICK FACTS. Phenylketonuria (PKU) By The Manual's Editorial Staff. Reviewed/Revised Mar 2023. VIEW PROFESSIONAL VERSION. Get the full details. What is phenylketonuria (PKU)? |. What causes PKU? |. What are the symptoms of PKU? |. How can doctors tell if my child has PKU? |. How do doctors treat PKU? What is …
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