ISSN 2706-9354

Abstract

GM1 gangliosidosis is an autosomal recessive lysosomal storage disorder due to deficiency of the β-galactosidase enzyme which hydrolyzes the terminal β-galactosyl residues from GM1 ganglioside, glycoproteins, and glycosaminoglycans. Patients with infantile GM1 gangliosidosis present at birth or shortly thereafter with visceral changes and severe neurological deterioration leading to early death. In this report, we presented a case of infantile GM1 gangliosidosis associated with multiple organomegaly.