Abstract
The inborn errors of GM2 ganglioside metabolism cause GM2 ganglioside to accumulate within the lysosomes of the nerve celis. The majority of the patients are infants with the Tay-Sachs from of the disease associated with a severe deficiency of β-N-Acetylhexosaminidase A (hexosaminidase A). Both Hexosaminidase A and B are deficient in Sandhoff disease.
The serum total hexosaminidase and the percentage of hexosaminidase A and B were estimated in 449 patients who presented with progressive mental-motor retardation. Three cases of Tay-Sachs disease and two cases of Sandhoff disease were detected. They presented with exaggerated startle response to acoustic stimuli, seizures, optic atrophy and retinal cherry red spots in addition to psychomotor retardation. One case of Sandhoff disease had hepatosplenomegaly and skeletal deformities.
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Christopher, R., Rangaswamy, G.R. & Shetty, K.T. GM2 gangliosidoses: A review of cases confirmed by β-N-acetylhexosaminidase assay. Indian J Pediatr 62, 479–483 (1995). https://doi.org/10.1007/BF02755071
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DOI: https://doi.org/10.1007/BF02755071