GM1 gangliosidosis

GM1-gangliosidosis is an autosomal recessive lysosomal storage disorder caused by deficient beta-galactosidase activity. The enzymatic defect results in the accumulation of GM1 ganglioside in nervous tissues and a highly variable storage of keratan sulfate and glycopeptides in visceral and skeletal tissues. There are three main clinical variants, infantile (type I), juvenile (type II), and adult (type III), categorized by severity of symptoms and variable residual enzymatic activity of beta-galactosidase.

Inherited metabolic disease; Lysosomal storage disease; Nervous system disease

GLB1; beta-galactosidase [HSA:2720] [KO:K12309]

GM1 ganglioside [GL:G00110] [CPD:C04911]
keratan sulfate [CPD:C00573]
Chondroitin sulfate [CPD:C00607]
Urine oligosaccharides

Hematopoietic stem cell transplantation
Chemical chaperone therapy; N-octyl-4-epi-beta-valienamine (NOEV)
(limited experience)

Morquio syndrome B is allelic to the various forms of GM1-gangliosidosis (see, H00123). Morquio syndrome B is characterized by skeletal dysplasia and corneal clouding. There is no central nervous system involvement and intelligence is normal.

PMID:18708002

Heese BA

Current strategies in the management of lysosomal storage diseases.

Semin Pediatr Neurol 15:119-26 (2008)

PMID:19472408

Hofer D, Paul K, Fantur K, Beck M, Burger F, Caillaud C, Fumic K, Ledvinova J, Lugowska A, Michelakakis H, Radeva B, Ramaswami U, Plecko B, Paschke E

GM1 gangliosidosis and Morquio B disease: expression analysis of missense mutations affecting the catalytic site of acid beta-galactosidase.

Hum Mutat 30:1214-21 (2009)

PMID:18202827

Suzuki Y

Chemical chaperone therapy for GM1-gangliosidosis.

Cell Mol Life Sci 65:351-3 (2008)