phenylketonuria

initialism: PKU
https://doi.org/10.1351/goldbook.11087

Autosomal recessive disorder resulting from mutations that impair the function of the enzyme phenylalanine 4-monooxygenase (EC 1.14.16.1).

Notes:
  1. The resulting failure of phenylalanine metabolism in the liver leads to its accumulation, causing mental retardation, seizures, and other neurological disorders in untreated individuals.
  2. The excess phenylalanine is metabolized to phenyl pyruvate ("phenylketone") that is detected in the urine and is used for screening newborns.
Source:
PAC, 2016, 88, 713. (Glossary of terms used in developmental and reproductive toxicology (IUPAC Recommendations 2016)) on page 792 [Terms] [Paper]
Citation: 'phenylketonuria' in IUPAC Compendium of Chemical Terminology, 5th ed. International Union of Pure and Applied Chemistry; 2025. Online version 5.0.0, 2025. https://doi.org/10.1351/goldbook.11087 RIS BibTex EndNote
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