Resumo

PEREDA-TORALES, Luis et al. Diagnosis of phenylketonuria by newborn screening. Bol. Med. Hosp. Infant. Mex. [online]. 2008, vol.65, n.4, pp.290-296. ISSN 1665-1146.

Introduction. Phenylketonuria is an autosomic recessive hereditary disease caused by a defect of the enzyme phenylalanine hydroxylase, which is responsible for the phenylalanine conversion to tyrosine. It is the second most frequent although preventable cause of mental retardation. Its incidence in Mexico is unknown. Early diagnosis is made through extended newborn screening, and treatment consists of a low-phenylalanine diet. Case report. Masculine 2-months old with no data of psycho-motor retardation. Newborn screening tests were performed. Values of phenylalanine were 15.25 mg/dL 3 days after delivery, whereas follow-up values at 2 months of age were 39.7 mg/dL. Diagnosis was confirmed with quantitative analysis of phenyla-lanine and tyrosine concentration by HPLC. Treatment consisted of phenylalanine-free infant formula and vegetarian diet. Conclusion. Newborn screening tests allow early detection of metabolic diseases in asymptomatic patients, such as phenylketonuria.

Palavras-chave : Phenylketonuria; phenylalanine; newborn screening.

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