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

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 seve...

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Bibliographic Details
Main Authors: Alex S. Aguirre, Edison Haro, Alberto Campodónico, Benjamín Arias-Almeida, Alissa Mendoza, Juan Pozo-Palacios, Vanessa Isabel Romero Aguilar
Format: Article
Language:English
Published: BMC 2024-11-01
Series:BMC Pediatrics
Subjects:
Phenylketonuria
Ecuador
Phenylalanine-hydroxylase
Hyperphenylalaninemia
Metabolic screening
Online Access:https://doi.org/10.1186/s12887-024-05140-z
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https://doi.org/10.1186/s12887-024-05140-z

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