Autosomal recessive disorder resulting from mutations that impair the function of the enzyme phenylalanine 4-monooxygenase (EC 1.14.16.1).
Notes: - The resulting failure of phenylalanine metabolism in the liver leads to its accumulation, causing mental retardation, seizures, and other neurological disorders in untreated individuals.
- 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 (https://doi.org/10.1515/pac-2015-1202)