Publications by authors named "Pedro E Bonfim-Freitas"
Background: Phenylketonuria (PKU) is an autosomal recessive disease resulting from a deficiency of the enzyme phenylalanine hydroxylase (PAH). Hyperphenylalaninemias (HPA) due to PAH deficiency are accompanied by a wide variety of clinical, biochemical, and molecular features. To identify and characterize pathogenic variants in the PAH gene and establish a correlation between genotype and biochemical phenotype in patients with PKU from state of ParĂ¡ in the North Region of Brazil.
View Article and Find Full Text PDFArticle Synopsis
- Phenylketonuria (PKU) is an autosomal-recessive disorder caused by mutations in the PAH gene, with a global prevalence of about 1 in 23,930 live births, affecting approximately 450,000 individuals worldwide.
- A study of 16,092 PKU patients across 51 countries found significant variations in disease severity, with 62% classified as classic PKU, 22% as mild PKU, and 16% as mild hyperphenylalaninemia; this also showed a geographic gradient in phenotype severity across Europe.
- The research identified the most common PAH variants and allowed for genotype-to-phenotype prediction, enabling better tailoring of treatments based on individual patient genetics