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Phenylketonuria (PKU) - Symptoms and causes - Mayo …
- https://www.mayoclinic.org/diseases-conditions/phenylketonuria/symptoms-causes/syc-20376302
- 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. PKUis caused by a change in the phenylalanine hydroxylase (PAH) gene. This gene helps create the enzyme needed to break down … See more
Phenylketonuria (PKU): Symptoms, Causes & Treatment …
- https://my.clevelandclinic.org/health/diseases/17816-phenylketonuria
- 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 …
Phenylketonuria (PKU) Screening: MedlinePlus Medical …
- https://medlineplus.gov/lab-tests/phenylketonuria-pku-screening/
- PKU stands for phenylketonuria, a rare disorder that prevents the body from properly breaking down a substance called phenylalanine (Phe). Phe is part of proteins that are …
Phenylketonuria: MedlinePlus Genetics
- https://medlineplus.gov/genetics/condition/phenylketonuria/
- Description Collapse Section Phenylketonuria (commonly known as PKU) is an inherited disorder that increases the levels of a substance called phenylalanine in the blood. …
Phenylketonuria - About the Disease - Genetic and Rare …
- https://rarediseases.info.nih.gov/diseases/7383/phenylketonuria/
- 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. …
Eunice Kennedy Shriver National Institute of Child Health …
- https://www.nichd.nih.gov/health/topics/factsheets/pku
- Phenylketonuria (pronounced fen-l-kee-toh-NOOR-ee-uh ), often called PKU, is an inherited disorder that that can cause intellectual and developmental disabilities …
Phenylketonuria: Causes, Symptoms, and Diagnosis
- https://www.healthline.com/health/phenylketonuria
- PKU is a genetic condition, so it can’t be prevented. However, an enzyme assay can be done for people who plan on having children. An enzyme assay is a blood …
What are common treatments for phenylketonuria (PKU)?
- https://www.nichd.nih.gov/health/topics/pku/conditioninfo/treatments
- The U.S. Food and Drug Administration (FDA) has approved the drug sapropterin dihydrochloride (Kuvan®) for the treatment of PKU. Kuvan® is a form of BH4, …
Phenylketonuria Definition & Meaning - Merriam-Webster
- https://www.merriam-webster.com/dictionary/phenylketonuria
- : an inherited metabolic disorder caused by an enzyme deficiency resulting in accumulation of phenylalanine and its metabolites in the blood causing usually severe intellectual …
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