Gangliosidosis

A new disease profile is added to our database – GM1 gangliosidosis. GM1 gangliosidosis is a lysosomal storage disorder characterized by the generalized accumulation of GM1 ganglioside, oligosaccharides, and the mucopolysaccharide keratan sulfate (and their derivatives) due to deficiency of the lysosomal hydrolase, acid β-galactosidase. Three clinical subtypes of GM1 gangliosidosis exist, classified by age of onset. GM1-gangliosidosis is a rare condition. It is estimated that approximately one in 100 000–200 000 live births is affected with this condition. Type I GM1-gangliosidosis is considered to occur more often than the other two types. All three types of GM1-gangliosidosis are inherited in an autosomal recessive manner. To receive a full description of this rare disease absolutely free of charge, please click here and send us a request. The profile was written by our consultant in genetics – Dr. Dimitrina Konstantinova, PhD.