Allogeneic transplantation Ganglosidosis 1 – pro
GM1 gangliosidosis is an autosomal recessive lysosomal storage disorder characterized by the generalized accumulation of GM1 ganglioside, oligosaccharides, and the mucopolysaccharide keratan sulfate (and their derivatives). Deficiency of the lysosomal hydrolase, acid ? -galactosidase, causes GM1 gangliosidosis and Morquio disease type B. Unfortunately, prognosis of the infantile type is very poor.
Although many lysosomal storage diseases have positive outcomes with hematopoietic stem cell transplantation (HSCT), in one individual with the juvenile form of GM1 gangliosidosis diagnosed prior to onset of symptoms, HSCT did not prevent the development of manifestations. This failure was attributed to the inability of sufficient stem cells to cross the blood-brain barrier rapidly enough to affect lipid accumulation in the central nervous system (CNS) [Shield et al 2005].
Shield JP, Stone J, Steward CG. Bone marrow transplantation correcting beta-galactosidase activity does not influence neurological outcome in juvenile GM1-gangliosidosis. J Inherit Metab Dis. 2005;28:797–8.
Boelens JJ, Prasad VK, Tolar J, et al. Current international perspectives on hematopoietic stem cell transplan-tation for inherited metabolic disorders. Pediatr Clin North Am. Feb 2010; 57(1):123-145.