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2024, Number 1

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Rev Mex Pediatr 2024; 91 (1)

Series of cases of classic phenylketonuria in Ecuador

Herrera-Jaramillo MI, Tello-Herrera MG, Tello-Herrera MB, Alarcón-Flores MJ

Language: Spanish
References: 22
Page: 24-27
PDF size: 267.27 Kb.


ABSTRACT

Introduction: phenylketonuria is an inherited metabolic disorder that leads to global developmental delay, if not managed promptly. Objective: to describe the clinical progression and treatment of pediatric patients with classic phenylketonuria. Clinical cases: four patients younger than 5 years old with classic phenylketonuria were diagnosed through neonatal metabolic screening and received timely treatment. Three of the four cases are following the treatment and show no symptoms, while the remaining patient, who is not adhering to treatment, does exhibit symptoms. Conclusions: early diagnosis and a proper metabolic control through dietary and nutritional treatment are crucial to prevent complications and improve the quality of life for these patients.


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