GM1 gangliosidoses
LYSOSOMAL STORAGE DISEASE
GM1 Storage Disease; GM1 gangliosidosis; Dysostosis multiplex; Gangliosidosis type1; Gangliosidosis GM1 type 3; Gm1 gangliosidosis; User:Clinical Geneticist/sandbox
The GM1 gangliosidoses, usually shortened to GM1, are gangliosidoses caused by mutation in the GLB1 gene resulting in a deficiency of beta-galactosidase. The deficiency causes abnormal storage of acidic lipid materials in cells of the central and peripheral nervous systems, but particularly in the nerve cells, resulting in progressive neurodegeneration.