Sandhoff disease
Sandhoff disease, also known as Sandhoff–Jatzkewitz disease and is a lysosomal genetic, lipid storage disorder caused by the inherited deficiency to create functional beta-hexosaminidases A and B. These catabolic enzymes are needed to degrade the neuronal membrane components, ganglioside GM2, its derivative GA2, the glycolipid globoside in visceral tissues and some oligosaccharides. Accumulation of these metabolites leads to a progressive destruction of the central nervous system and eventually to death. The rare autosomal recessive.
Sandhoff disease can be detected by biopsy, genetic testing, molecular analysis of cells and tissues, enzyme assay, and urinalysis.
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