Phenylketonuria in Portugal: Genotype-phenotype correlations using molecular, biochemical, and haplotypic analyses.

ABSTRACT:

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 prevent clinical manifestations of the disease.

Methods

In this report, the biochemical and genetic findings performed in 223 patients diagnosed through the Portuguese Neonatal Screening Program (PNSP) are presented.

Results

Overall, the results show that a high overlap exists between different types of variants and phenylalanine levels. Molecular analyses reveal a

SUBMITTER: Ferreira F 

PROVIDER: S-EPMC8104178 | biostudies-literature | 2021 Mar

REPOSITORIES: biostudies-literature