GM1 Gangliosidosis: A Rare Neurometabolic Disease

Shayla Imam Kanta1, Mir Mohamad Yousuf Pavel2, Naila Z Khan3, AKM Khairul Islam4

GM1 gangliosidosis is an autosomal recessive lysosomal storage disorder characterized by the generalized accumulation of GM1 ganglioside, oligosaccharides, and the mucopolysaccharide keratan sulfate (and their derivatives). Deficiency of the lysosomal hydrolase,acid ²-galactosidase,causes GM1 gangliosidosis.1 Three clinical subtypes of GM1 gangliosidosis are recognized, classified by age of onset, as follows:Infantile (type 1) Juvenile (type 2) and adult (type 3).

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