مرکز منطقه ای اطلاع رساني علوم و فناوري -

چكيده لاتين :

G M1-gangliosidosis is a very rare autosomal recessive genetic-metabolic disorder, caused by deficiency of the lysosomal enzyme ganglioside-Jl-galactosidase that results in accumulation of glycoseaminoglycans, oligo saccharides, and especially GMlganglioside. Herein, we report the clinical and laboratory findings of two Iranian families with 6 affected cases. In one of the families, four of the affected children died in the childhood period. All of the deceased cases were investigated thoroughly before and the diagnosis of Nieman-Pickיs disease was suggested for them; enzymatic analysis, had not been carried out for these cases. In the alive probands of the two families, enzyme assays showed that the sphingomyelinase activity was within normal limits, but ganglioside-pgalactosidase activity was deficient in both of them. Enzyme assays of the patients was carried out in the Metabolic Department of the Erasmus University based in the Rotterdam the Netherlands. Measurment of the activity of the lysosomic enzyme ganglioside-a-galactosidase showed deficiency in both of the probands. Sphyngomyelinase and other lysosomal enzyme activity were within normal limits. Diagnosis in these two families was GMlgangliosidosis. To date these are the only affected cases confirmed by enzyme assays in Iran.