Archivos de Pediatría del Uruguay
Print version 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].