Early Infantile Gangliosidosis GM1, a Rare Clinical Entity

Abstracts

Gangliosidosis is a rare lysosomal storage disease. There have been about 200 cases reported, to date. The Overall prevalence at birth of GM1 Gangliosidosis is estimated to be 1 in 100,000 to 300,000. It is an inherited enzyme deficiency of beta-galactosidase, which results in the accumulation of glycosphingolipids within the lysosomes. It leads to neurological, skeletal and dermatological manifestations. Inferred GM1 Gangliosidosis is a lysosomal storage disorder, affected by mutations in GLB1, encoding beta-galactosidase. The range of severity is from type 1 infantile disease, lethal in early childhood, to type 3 adult on set, resulting in gradually progressive neurological symptoms in adulthood. The case report relates to a 13 months old patient with early infantile type of Gangliosidosis.

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Keywords :

Gangliosidosis; autosomal recessive inherited enzyme deficiency; beta-galactosidase; glycosphingolipids; lysosomes.