Fenilcetonuria clásica en pacientes pediátricos en la ciudad de Cuenca - Ecuador. Serie de casos

Abstract

Background: Phenylketonuria has been a paradigm of hereditary metabolic diseases; it is also the first one that allowed finding the biochemical explanation of mental retardation. It is a type of innate metabolic disorder associated with amino acids, caused by a failure of hepatic phenylalanine hydroxylase, causing in the patient irreversible damage to nerve cells and an overall developmental delay due to an accumulation of proteins in the tissues. This is a disorder that should be identified early for proper management within the first 28 days of life. Clinical cases: The present case series will expose four pediatric patients between the ages of 0 to 5 years, who presented a diagnosis of classic phenylketonuria in the city of Cuenca-Ecuador, which were diagnosed through neonatal metabolic screening with which it was possible to administer timely treatment for this pathology. Conclusions: Early diagnosis and adequate metabolic control through treatment, mainly dietary-nutritional, is crucial to delay complications and increase life expectancy in patients with phenylketonuria.