Ferreira, FAzevedo, LNeiva, RSousa, CFonseca, HMarcão, ARocha, HCarmona, CRamos, SBandeira, AMartins, ECampos, TRodrigues, EGarcia, PDiogo, LFerreira, ACSequeira, SSilva, FRodrigues, LGaspar, AJaneiro, PAmorim, AVilarinho, L2021-05-272021-05-272021-03Mol Genet Genomic Med . 2021 Mar;9(3):e1559http://hdl.handle.net/10400.17/3707The impairment of the hepatic enzyme phenylalanine hydroxylase (PAH) causes elevation of phenylalanine levels in blood and other body fluids resulting in the most common inborn error of amino acid metabolism (phenylketonuria). Persistently high levels of phenylalanine lead to irreversible damage to the nervous system. Therefore, early diagnosis of the affected individuals is important, as it can prevent clinical manifestations of the disease.engPhenylketonuriaBiochemicalGenetic FindingsHaplotypic StudyMutation SpectrumPortugalHDE MTBjournal article10.1002/mgg3.1559