Abstract

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 β -galactosidase, causes GM1 gangliosidosis. GM1 gangliosidosis is a rare disorder, and the estimated incidence is 1:100,000- 200,000 live births. GM1 gangliosidosis is found in all races, although specific alleles can be identified in certain ethnic groups. A high frequency of GM1 gangliosidosis has been reported from Southern Brazil, and a large number of Japanese patients with the adult form have been reported. All 3 types of GM1 gangliosidosis are inherited as autosomal recessive traits and have equal sex distributions.

Keywords: Mucopolysachroid; Keratan sulphate; Dermal melanocytosis; Autosomal recessive