H number H00426
Name Defects in the degradation of ganglioside, including:
GM1 gangliosidosis [DS:H00281];
GM2 gangliosidoses [DS:H00124];
Gaucher disease [DS:H00126]
Description Defects in the degradation of ganglioside is a group of autosomal recessive lysosomal storage diseases caused by deficient activty of enzymes or their activators that play important roles in the degradation of ganglioside. The lack of a single enzyme leads to the complete blockage of the catabolic chain and results in the accumulation of undegraded substrates such as keratan sulfate, gangliosides, glucosylceramide and glycopeptides in neurons and skeletal tissues. Deficiency of the GM2 activator protein causes the AB variant of GM2 gangliosidosis. And saposin C is an activator of beta-glucocerebrosidase.
Category Inherited metabolic disease; Lysosomal storage disease; Nervous system disease