Abstract

RASNER, Maira et al. Fenilcetonuria: Descripción de un caso clínico. Arch. Pediatr. Urug. [online]. 2014, vol.85, n.1, pp.28-33. ISSN 1688-1249.

Phenylketonuria, inborn error of metabolism, is a genetic disorder that is transmitted with autosomal recessive inheritance pattern. Alterations in the process of hydroxylation of phenylalanine, determine its increase in plasma with deleterious effect on the nervous system. The neurological prognosis depends primarily on diagnosis and early treatment. In Uruguay from 2007 starts the mandatory screening for PKU. From December 2008 is used to detect a mass spectrometer, allowing detect over twenty metabolic diseases with one heel blood sample. Although low, there is a rate of false negative, forcing us to reiterate the sample under clinical suspicion. We report the case of an infant with late diagnosis of phenylketonuria and secondary West, constituting a false negative in neonatal screening. The aim of this presentation is to emphasize the importance of a correct following of neurodevelopmental process as a fundamental part of child health control and the need to reiterate the research under clinical suspicion.

Keywords : PHENYLKETONURIA; METABOLISM, INBORN ERRORS; NEONATAL SCREENING.

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