Biomarker for Gangliosidosis: BioGM1 / BioGM2 AN INTERNATIONAL, MULTICENTER, EPIDEMIOLOGICAL PROTOCOL

Gangliosidosis:

Gangliosides are complex compunds consisting of a glycosphingolipid and a sialic acid and are located at the cell surface where they are responsible for detecting extracellular molecules. Gangliosides are mainly located in the nervous system.

If gangliosides accumulate pathologically throughout the body this is known as Gangliosidosis. There are two main sub-types of Gangliosidosis depending on the deficient enzyme, which are known as GM1 and GM2.

GM1-Gangliosidosis GM1-Gangliosidosis is an autosomal recessive disease. Genetic counselling should be provided to affected families. The disorder is caused by mutations in the GLB1-gene coding for beta-galactosidase. To day, more than 165 mutations have been identified. Deficient enzyme activity leads to toxic accumulation of gangliosides in body tissues, and particularly in the central nervous system (CNS).

The disorder is pan-ethnic, however the worldwide prevalence is not known. Prevalence at birth is estimated to be approximately 1:100,000 to 200,000 live births. High prevalence has been found in Malta and Brazil, and in the Cypriot and Roma populations.