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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. PKU is caused by a change in the phenylalanine hydroxylase (PAH) gene. This gene helps create the enzyme needed to break down … See more

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: Causes, Symptoms, and Diagnosis

    https://www.healthline.com/health/phenylketonuria
    PKU is an inherited condition caused by a defect in the PAH gene. The PAH gene helps create phenylalanine hydroxylase, the enzyme responsible for breaking down …

Phenylketonuria: MedlinePlus Genetics

    https://medlineplus.gov/genetics/condition/phenylketonuria/
    Phenylketonuria (commonly known as PKU) is an inherited disorder that increases the levels of a substance called phenylalanine in the blood. Phenylalanine is a building …

Phenylketonuria - NHS

    https://www.nhs.uk/conditions/phenylketonuria/
    Phenylketonuria (PKU) is a rare but potentially serious inherited disorder. Our bodies break down the protein in foods, such as meat and fish, into amino acids, which are the …

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. …

About Phenylketonuria - Genome.gov

    https://www.genome.gov/Genetic-Disorders/Phenylketonuria
    Phenylketonuria (PKU) is an inherited disorder of metabolism that causes an increase in the blood of a chemical known as phenylalanine. Phenylalanine …

PKU Test for Phenylketonuria: Purpose, Procedure, …

    https://www.webmd.com/children/pku-test
    PKU is a rare genetic condition that affects metabolism -- the way your body turns food into energy. Babies with PKU can’t make an enzyme needed to break down phenylalanine …

What Does a Positive PKU Test Mean? - MedicineNet

    https://www.medicinenet.com/what_does_a_positive_pku_test_mean/article.htm
    PKU is a hereditary or genetic disorder where people lack the enzyme required to metabolize the amino acid phenylalanine, which is found in many foods as …



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