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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: PKU is a rare inherited disorder that causes a buildup of phenylalanine, an amino acid, in the body. It can lead to serious health problems if not treated with a special diet and medications. Learn about the symptoms, causes, diagnosis and treatment of PKU from Mayo Clinic. See more
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2. Phenylketonuria (PKU): Symptoms, Causes & Treatment
Link: https://my.clevelandclinic.org/health/diseases/17816-phenylketonuria
Description: 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, …
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3. Phenylketonuria - Wikipedia
Link: https://en.wikipedia.org/wiki/Phenylketonuria
Description: OverviewSigns and symptomsGeneticsPathophysiologyScreeningTreatmentEpidemiologyHistoryPhenylketonuria (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 who has poorly treated PKU may have heart problems, a small head, and low birth weight. Usual onset: At birth
Usual onset: At birth
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5. Phenylketonuria: Causes, Symptoms, and Diagnosis - Healthline
Link: https://www.healthline.com/health/phenylketonuria
Description: WebJul 25, 2017 · PKU is a rare genetic disorder that affects the breakdown of phenylalanine, an amino acid in protein. Learn how PKU is diagnosed, treated, and …
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6. Phenylketonuria (PKU) - Diagnosis and treatment - Mayo Clinic
Link: https://www.mayoclinic.org/diseases-conditions/phenylketonuria/diagnosis-treatment/drc-20376308
Description: WebMay 13, 2022 · PKU is a genetic disorder that affects how the body processes phenylalanine, an amino acid in protein. Learn about the newborn screening, the diet …
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7. Phenylketonuria (PKU) - NICHD - Eunice Kennedy Shriver …
Link: https://www.nichd.nih.gov/health/topics/factsheets/pku
Description: WebMay 15, 2012 · PKU is an inherited disorder that affects the body's ability to process phenylalanine, a protein in foods. It can cause intellectual and developmental …
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8. About Phenylketonuria - National Human Genome …
Link: https://www.genome.gov/Genetic-Disorders/Phenylketonuria
Description: 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 …
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9. Phenylketonuria: MedlinePlus Genetics
Link: https://medlineplus.gov/genetics/condition/phenylketonuria/
Description: 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 and how it can affect …
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10. Phenylketonuria - About the Disease - Genetic and Rare …
Link: https://rarediseases.info.nih.gov/diseases/7383/phenylketonuria/
Description: WebDisease 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 …
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11. Phenylketonuria (PKU) | Boston Children's Hospital
Link: https://www.childrenshospital.org/conditions/phenylketonuria-pku
Description: 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 …