Medical Condition Pku

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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 - 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. …

Phenylketonuria | PKU | MedlinePlus

https://medlineplus.gov/phenylketonuria.html

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 …

Phenylketonuria (PKU): Condition Information | NICHD

https://www.nichd.nih.gov/health/topics/pku/conditioninfo/default

Phenylketonuria (pronounced fen-l-kee-toh-NOOR-ee-uh), often called PKU, is an inherited disorder that that can cause intellectual and developmental …

Phenylketonuria: Causes, Symptoms, and Diagnosis

https://www.healthline.com/health/phenylketonuria

Phenylketonuria (PKU) is a rare genetic condition that causes an amino acid called phenylalanine to build up in the body. Amino acids are the building blocks of …

Phenylketonuria: MedlinePlus Genetics

https://medlineplus.gov/genetics/condition/phenylketonuria/

Less severe forms of this condition, sometimes called variant PKU and non-PKU hyperphenylalaninemia, have a smaller risk of brain damage. People with very mild cases may not require treatment …

Phenylketonuria (PKU) Screening: MedlinePlus Medical …

https://medlineplus.gov/lab-tests/phenylketonuria-pku-screening/

A PKU screening test is a blood test given to newborns 24–72 hours after birth. PKU stands for phenylketonuria, a rare disorder that prevents the body from properly breaking down …

What are common treatments for phenylketonuria (PKU)?

https://www.nichd.nih.gov/health/topics/pku/conditioninfo/treatments

There is no cure for PKU, but treatment can prevent intellectual disabilities and other health problems. 1 A person with PKU should receive treatment at a medical …

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