1.
New Egyptian Journal of Medicine [The]. 2010; 42 (6): 522-524
Dans Anglais
| IMEMR
| ID: emr-125177
Résumé
GM1 gangliosidosis is an autosomal recessive lysosomal storage disorder characterized by the generalized accumulation of GM1 ganglioside. Deficiency of the lysosomal hydrolase, acid beta-galactosidase, causes GM1 gangliosidosis and Morquio disease type B. 1, 2 Three clinical subtypes of GM1 gangliosidosis are recognized, classified by age of onset, [Infantile [type 1], juvenile [type 2] and adult [type 3][3, 4, 5]. We describe here 2 sibs brother and sister with features suggestive of GM 1 and confirm the diagnosis with enzymatic assay for beta galactosidase enzyme