Abstract

ESTRADA DEL CUETO, Marianela; MOLINA MATOS, Gisela; GUTIERREZ CAMPO, Alina  and  PEREZ DIEZ DE LOS RIOS, Graciela. Enzimes of the biosynthesis of reduced glutathione: Normal values and study of a patient with GSH deficiency. Rev Cubana Hematol Inmunol Hemoter [online]. 1999, vol.15, n.1, pp. 35-41. ISSN 1561-2996.

The techniques of the activity of gamma glutamyl cysteil synthetase and glutathione synthetase were standardized aimed ad studying those patients with congenital deficiency of reduced glutathione. The normal values found in our laboratory did not have significant differences compared with those mentioned by other authors. Several members of a family with deficiency of reduced glutathione were studied. The biochemical studies excluded the possible deficiency of glucose-6-phosphate deshydrogenase. In the main case and a sibling (G.D.R.) it was found a deficiency of glutathione synthetase. Both present a non-spherocytic congenital hemolytic anemia with chronic hemolysis and icterus that exacerbate in the course of infectious processes, and gall stones, too. No one presented metabolic acidosis or progressive neurologic disorders, since both are carriers of the bening form of the disease. In the father and other sibling the results of the hematological and biochemical study show that they are possibly heterocygotic for the deficiency of this enzyme. This is the first family with glutathione synthetase deficiency found in our population

Keywords : GLUTATHIONE [deficiency]; GLUTATHIONE SYNTHASE [deficiency]; GLUTATHIONE SYNTHASE [genetics]; GLUTAMATE-CYSTEINE LIGASE [deficiency]; GLUTAMATE-CYSTEINE LIGASE [genetics]; ANEMIA, HEMOLYTIC CONGENITAL [genetics ].

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