Current landscape of phenylketonuria in Colombia

Main Article Content

Ana Maria Zarante
Sandra Milena Navarro Marroquín
Juan Carlos Prieto
Lissete Cabarcas Castro
Marvid Sol Duarte Moreno
Oscar Mauricio Espitia Segura
Ignacio Zarante
Luz Helena Castaño Torres
Sandra Catalina Mesa Restrepo
Carolina Baquero
Sandra Ospina Lagos

Abstract

Background: Phenylketonuria (PKU) is an inborn error of hepatic phenylalanine (Phe) metabolism. Chronic Phe accumulation is deleterious to the central nervous system, as it causes cognitive impairment and severe behavioral disturbance.


Topic: Early diagnosis through neonatal screening is pivotal as it allows for modifying the disease's natural course and offers timely genetic counseling.


Conclusions: We aim to review the current overview of the disease and neonatal screening in Colombia, while approaching the challenges in therapy and follow-up of early and late-diagnosed patients.

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How to Cite
Zarante , A. M., Navarro Marroquín, S. M., Prieto, J. C., Cabarcas Castro, L., Duarte Moreno, M. S., Espitia Segura, O. M., … Ospina Lagos, S. (2024). Current landscape of phenylketonuria in Colombia. Pediatría, 57(2), e494. https://doi.org/10.14295/rp.v57i2.494
Section
Opinion article
Author Biography

Ana Maria Zarante , Hospital Universitario San Ignacio

Genetista clinico y Genetista de la Clinica de Errores innatos del metabolismo del Hospital Universitario San Ignacio

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