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

• Main Authors: Alex S. Aguirre (Author), Edison Haro (Author), Alberto Campodónico (Author), Benjamín Arias-Almeida (Author), Alissa Mendoza (Author), Juan Pozo-Palacios (Author), Vanessa Isabel Romero Aguilar (Author)
• Format: Book
• Published: BMC, 2024-11-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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 seve...