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Revista Cubana de Pediatría

versión impresa ISSN 0034-7531versión On-line ISSN 1561-3119

Resumen

GUTIERREZ GARCIA, Enna; BARRIOS GARCIA, Bárbara; CARRILLO ESTRADA, Úrsula  y  LANTIGUA CRUZ, Aracely. Galactosemia: diagnóstico de 5 casos con deficiencia de transferasa. Rev Cubana Pediatr [online]. 2001, vol.73, n.2, pp.75-80. ISSN 0034-7531.

The biochemical study of 5 children who were referred to the National Center of Medical Genetics because they were clinically suspected of suffering from an inborn error of the carbohydrate metabolism is presented. Thin layer chromatography was carried out to detect these substances in urine and a band was found at the galactose level. A high level of metabolites in blood was found on quantifying them. The final diagnosis consited in demonstrating the deficiency of erythrocytic galactose-1-phosphate uridyltransferase by the spectrophotometric method. The character of carriers of the deficient gene was also proved among the parents of the 5 children.

Palabras clave : GALACTOSEMIA [diagnosis]; GALACTOSEMIA [enzymology]; GALACTOSEMIA [genetics]; TRANSFERASES [deficiency]; GALACTOSE [deficiency]; CARBOHYDRATE METABOLISM; INBORN ERRORS; CHILD.

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