Case presentation: Male, 4 years old, diagnosed with Tay-Sachs syndrome. Patient neuropsychomotor developmental delay, presented polymorphic behaviors such as arrests, tonic posturing and laughter that were treated in another facility a series of anti-crisis medications no response. At first evaluation patient was use Levetiracetam, Clobazan, Phenobarbital, Oxcarbazepine Cannabidiol. A 24-hour ...

Hexosaminidase S (HEX S), the residual isozyme found in tissues and body fluids of children with the O variant of GM2 gangliosidosis, was purified from tissues of variant individuals and biochemically and immunochemically characterized. This enzyme has an apparent molecular weight of 103,000 with an isoelectric point of 4.2, is heat labile to the same extent as HEX A, and loses most of its acti...

An Ashkenazi Jewish brother and sister developed progressive ataxia and proximal neurogenic muscle weakness, associated with supranuclear ophthalmoplegia, in the fourth decade of life. Hexosaminidase A activity, assayed using both synthetic and natural substrates, was severely reduced in the patients' plasma, leukocytes, and skin fibroblasts. Enzyme activity in their parents was in a similar ra...

andhoff disease (GM2 gangliosidosis) is much less common than Tay-Sachs disease. Both are autosomal recessive lysosomal storage disorders (GM gangliosidoses). But Sandhoff disease is caused by mutations of the gene encoding the beta sub-unit of hexosaminidase, on chromosome 5. In Tay-Sachs disease, the mutation is in the alpha sub-unit on chromosome 15.1 Since both hexosaminidase A and hexosami...