Expanding diversity within phenylketonuria in ecuadorian patients: genetic analysis and literature review of newborn screenings.

ABSTRACT: Phenylketonuria (PKU) is an autosomal recessive metabolic disorder caused by a deficiency in the phenylalanine hydroxylase (PAH) enzyme, leading to the accumulation of phenylalanine and its metabolites, which are toxic to the central nervous system. Without treatment, PKU can result in severe intellectual disability and neurological issues. This study aims to present the first cohort of clinically described Ecuadorian PKU patients, analyzing genotype-phenotype correlations and comparing these variants with global databases to improve diagnosis and treatment in Ecuador. Detailed clinical histories were collected, and an analysis of genotype versus phenotype (affected protein domain) of the variant was performed. Among the PAH genotypes identified, we found 15 distinct variants, with c.[754 

SUBMITTER: Aguirre AS 

PROVIDER: S-EPMC11566563 | biostudies-literature | 2024 Nov

REPOSITORIES: biostudies-literature