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

• Autor(es): Ferreira, F ; 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
• Data: 2021
• Identificador Persistente: http://hdl.handle.net/10400.17/3707
• Origem: Repositório do Centro Hospitalar de Lisboa Central, EPE
• Assunto(s): Phenylketonuria; Biochemical; Genetic Findings; Haplotypic Study; Mutation Spectrum; Portugal; HDE MTB
• Tipo de Documento: Artigo científico
• Idioma: Inglês
• Contribuidor(es): Repositório da Unidade Local de Saúde São José

Descrição

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.