Article
Phenylketonuria in Portugal: Genotype-phenotype correlations using molecular, biochemical, and haplotypic analyses.
Molecular genetics & genomic medicine - 1 Mar 2021
Ferreira Filipa, Azevedo Luísa, Neiva Raquel, Sousa Carmen, Fonseca Helena, Marcão Ana, Rocha Hugo, Carmona Célia, Ramos Sónia, Bandeira Anabela, Martins Esmeralda, Campos Teresa, Rodrigues Esmeralda, Garcia Paula, Diogo Luísa, Ferreira Ana Cristina, Sequeira Silvia, Silva Francisco, Rodrigues Luísa, Gaspar Ana, Janeiro Patrícia, Amorim António, Vilarinho Laura
Abstract excerpt
BACKGROUND: 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...
Topics
- Female
- Gene Frequency
- Haplotypes
- Homozygote
- Humans
- Infant, Newborn
- Male
- Mutation
- Neonatal Screening