Gangliosidosis 1 in brother and sister: case report

GM1 gangliosidosis is an autosomal recessive lysosomal storage disorder characterized by the generalized accumulation of GM1 ganglioside. Deficiency of the lysosomal hydrolase, acid beta-galactosidase, causes GM1 gangliosidosis and Morquio disease type B. 1, 2 Three clinical subtypes of GM1 gangliosidosis are recognized, classified by age of onset, [Infantile [type 1], juvenile [type 2] and adult [type 3][3, 4, 5]. We describe here 2 sibs brother and sister with features suggestive of GM 1 and confirm the diagnosis with enzymatic assay for beta galactosidase enzyme

Effect of collection, transport, processing and storage of blood specimens on the activity of lysosomal enzymes in plasma and leukocytes

This study was designed to evaluate the effect of different conditions of collection, transport and storage on the quality of blood samples from normal individuals in terms of the activity of the enzymes Beta-glucuronidase, total hexosaminidase, hexosaminidase A, arylsulfatase A and Beta-galactosidase. The enzyme activities were not affected by the different materials used for collection (plastic syringes or vacuum glass tubes). In the evaluation of different heparin concentrations (10 percent heparin, 5 percent heparin, and heparinized syringe) in the syringes, it was observed that higher doses resulted in an increase of at least 1-fold in the activities of Beta-galactosidase, total hexosaminidase and hexosaminidase A in leukocytes, and Beta-glucuronidase in plasma. When the effects of time and means of transportation were studied, samples that had been kept at room temperature showed higher deterioration with time (72 and 96 h) before processing, and in this case it was impossible to isolate leukocytes from most samples. Comparison of heparin and acid citrate-dextrose (ACD) as anticoagulants revealed that Beta-glucuronidase and hexosaminidase activities in plasma reached levels near the lower normal limits when ACD was used. In conclusion, we observed that heparin should be used as the preferable anticoagulant when measuring these lysosomal enzyme activities, and we recommend that, when transport time is more than 24 h, samples should be shipped by air in a styrofoam box containing wet ice