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.
Category
Inherited metabolic disorder, Lysosomal disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
05 Endocrine, nutritional or metabolic diseases
Metabolic disorders
Inborn errors of metabolism
5C56 Lysosomal diseases
H00281 GM1 gangliosidosis
Pathway-based classification of diseases [BR:br08402]
Lipid/glycolipid metabolism
nt06014 Sphingolipid degradation
H00281 GM1 gangliosidosis
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.
