Gangliosidosis GM1 type 3


A rare biochemical disorder involving a deficiency of an enzyme (beta-galactosidase A) which results in the accumulation of harmful chemicals (GM1 gangliosides) in the central nervous system and other body tissues. Type III involves a lesser degree of accumulation than type II or I.


* Gait ataxia * Dysarthria * Spasticity * Progressive dystonia * Mild mental impairment


enzyme assay


Enzyme deficiency results in accumulation of GM1 gangliosides in the central nervous system (especially the basal ganglia) and galactosyl oligosaccharides. Keratan-sulfate degradation products accumulate in somatic cells (visera). With type III, the deposition of GM1 gangliosides is less extensive than with the other two types. Deposition of substances in the peripheral tissues is also less extensive in type III (than in I and II).


no disease-specific treatment available