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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) 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/
    Collapse Section Phenylketonuria (commonly known as PKU) is an inherited disorder that increases the levels of a substance called phenylalanine in the blood. …

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 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 …

About Phenylketonuria - Genome.gov

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

PKU | definition of PKU by Medical dictionary

    https://medical-dictionary.thefreedictionary.com/PKU
    Phenylketonuria (PKU) An enzyme deficiency present at birth that disrupts metabolism and causes brain damage. This rare inherited defect may be linked to the development of …

Phenylketonuria | definition of phenylketonuria by …

    https://medical-dictionary.thefreedictionary.com/phenylketonuria
    Definition. Phenylketonuria (PKU) can be defined as a rare metabolic disorder caused by a deficiency in the production of the hepatic (liver) enzyme phenylalanine …

PKU Definition & Meaning - Merriam-Webster

    https://www.merriam-webster.com/dictionary/PKU
    PKU abbreviation phenylketonuria Dictionary Entries Near PKU pkt PKU pkwy See More Nearby Entries Cite this Entry Style “PKU.” Merriam-Webster.com Dictionary, Merriam …



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