How to pronounce“phenylketonuria”in English
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Definitions of “phenylketonuria”
A metabolic disorder in which individuals lack the liver enzyme phenylalanine hydroxylase (PAH) which is needed to metabolize the amino acid phenylalanine.
“Nash Hensley, of South Bend, Indiana, was born with two genetic disorders: achondroplasia, a bone growth disorder characterized by dwarfism, and phenylketonuria, or PKU, which causes the phenylalanine amino acid to build up in the body, according to the Mayo Clinic. PKU is caused by a defect in the gene that produces the enzyme needed to break down phenylalanine, so Nash is required to live on a restricted, low-protein diet.”
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