Abstract

SOTO VILLASANTE, Carmelo Gilberto  and  SOTO MARGOLLES, Ailene. Neonatal and selective screening for some congenital errors of metabolism in Villa Clara. Rev Cubana Pediatr [online]. 2007, vol.79, n.1, pp. 0-0. ISSN 1561-3119.

The congenital errors of metabolism integrate a very heterogeneous group of diseases of genetic cause affecting mainly the infantile population. The diagnosis may be made in the early neonatal period or in children at risk for suffering from this disease. The results obtained in our lab during 15 years are presented in this paper. 6 159 newborns were studied in order to detect galactosemia and biotinidase deficiency.  It was  thought that a child had a variant of galactosemia known as Duarte. A selective study of  920 children with presumptive congenital errors of metabolism was conducted, and  3.36 % of positive cases were found. The most frequent disease among them was mucopolysacharidosis. It was proved that the use of the conventional technology and a good cooperation of the physician allowed to make the diagnosis in a great number of children with some congenital error of metabolism.

Keywords : Congenital errors of metabolism; mucopolysacharidosis; galactosemia; biotinidase deficiency; neonatal and selective screening.

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