Phenylketonuria in Portugal: Genotype-Phenotype Correlations Using Molecular, Biochemical, and Haplotypic Analyses

• Autor(a) principal: Ferreira, F
• Data de Publicação: 2021
• Outros Autores: Azevedo, L, Neiva, R, Sousa, C, Fonseca, H, Marcão, A, Rocha, H, Carmona, C, Ramos, S, Bandeira, A, Martins, E, Campos, T, Rodrigues, E, Garcia, P, Diogo, L, Ferreira, AC, Sequeira, S, Silva, F, Rodrigues, L, Gaspar, A, Janeiro, P, Amorim, A, Vilarinho, L
• Tipo de documento: Artigo
• Idioma: eng
• Título da fonte: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
• Texto Completo: http://hdl.handle.net/10400.17/3707
• topic: Phenylketonuria; Biochemical; Genetic Findings; Haplotypic Study; Mutation Spectrum; Portugal; HDE MTB

The 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.