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GM1 gangliosidosis, type 1 (infantile GM1-gangliosidosis)
Pathology:
- accumulation of beta-linked galactose-terminal oligosaccharides in visceral tissues
- central nervous system degeneration
Genetics:
- autosomal recessive
- associated with defects in GLB1
Clinical manifestations:
- coarse facial features
- hepatosplenomegaly
- skeletal dysmorphology reminiscent of Hurler syndrome
- infantile form is rapidly progressive leading to death usually between the 1st & 2nd year
Laboratory:
- excretion of beta-linked galactose-terminal oligosaccharides in the urine
Related
chromosomal aberration
glycoprotein
GM1 ganglioside; monosialoganglioside
keratan sulfate
General
GM1 gangliosidosis
Properties
ACCUMULATION: GM1 ganglioside
glycoprotein
keratan sulfate
DEFICIENCY: beta-galactosidase
Database Correlations
OMIM 230500
References
UniProt :accession P16278