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1. Phenylketonuria (PKU) - Symptoms and causes - Mayo Clinic
Link: https://www.mayoclinic.org/diseases-conditions/phenylketonuria/symptoms-causes/syc-20376302
Description: Web ResultMay 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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2. Phenylketonuria (PKU): Symptoms, Causes & Treatment - Cleveland Clinic
Link: https://my.clevelandclinic.org/health/diseases/17816-phenylketonuria
Description: Web ResultAug 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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3. Phenylketonuria - Wikipedia
Link: https://en.wikipedia.org/wiki/Phenylketonuria
Description: Web ResultPhenylketonuria (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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4. Phenylketonuria: Causes, Symptoms, and Diagnosis - Healthline
Link: https://www.healthline.com/health/phenylketonuria
Description: Web ResultJul 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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5. Phenylketonuria (PKU) - Diagnosis and treatment - Mayo Clinic
Link: https://www.mayoclinic.org/diseases-conditions/phenylketonuria/diagnosis-treatment/drc-20376308
Description: Web ResultMay 13, 2022 · Phenylketonuria (PKU) 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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6. Phenylketonuria (PKU) - NICHD - Eunice Kennedy Shriver …
Link: https://www.nichd.nih.gov/health/topics/factsheets/pku
Description: Web ResultMay 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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7. About Phenylketonuria - National Human Genome Research …
Link: https://www.genome.gov/Genetic-Disorders/Phenylketonuria
Description: Web ResultAug 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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8. Phenylketonuria: MedlinePlus Genetics
Link: https://medlineplus.gov/genetics/condition/phenylketonuria/
Description: Web ResultPhenylketonuria (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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9. Phenylketonuria (PKU) | Boston Children's Hospital
Link: https://www.childrenshospital.org/conditions/phenylketonuria-pku
Description: Web ResultWhat is phenylketonuria (PKU)? Phenylketonuria (PKU) is a genetically determined metabolic disorder that is highly treatable with diet and supplements. It is an inherited disease in which the body cannot …
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10. Phenylketonuria - About the Disease - Genetic and Rare …
Link: https://rarediseases.info.nih.gov/diseases/7383/phenylketonuria/
Description: Web ResultDisease at a Glance. Summary. Phenylketonuria (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.