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Archivos de Pediatría del Uruguay

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Abstract

BENITEZ, VERóNICA; SAN JULIAN, ERNESTO  and  RODRIGUEZ, MARíA MIRTA. Fenilcetonuria: A propósito de dos pacientes. Arch. Pediatr. Urug. [online]. 2001, vol.72, n.4, pp. 293-297. ISSN 0004-0584.

Phenylketonuria, an inborn error of metabolism (IEM), is a disorder of aminoacid metabolism due to inherited deficiency of the enzyme phenylalanine-hydroxilase that metabolizes phenylalanine in tyrosine. The hiperphenylalaninemia causes a deleterious and irreversible effect over the Nervous System in development. Neonatal detection allow early diagnosis and avoid mental retardation if the patient is started in a low phenylalanine diet on the first two months of life. On present the clinical and paraclinical cases, and the pedigree of two brothers with late diagnosis of phenylketonuria.

Keywords : PHENYLKETONURIAS; PHENYLALANINE HYDROXYLASE [deficiency].

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