Current landscape of phenylketonuria in Colombia
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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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