Early Infantile Gangliosidosis GM1, a Rare Clinical Entity
Muhammad Samsoor Zarak *
Bolan Medical College, Quetta, Pakistan
Mobin Ur Rehman Khan
Bolan Medical College, Quetta, Pakistan
Sana Bushra
Bolan Medical College, Quetta, Pakistan
Mazhar Khalid
Bolan Medical College, Quetta, Pakistan
Saliha Kakar
Bolan Medical College, Quetta, Pakistan
Helmand Khan Tareen
Bolan Medical College, Quetta, Pakistan
*Author to whom correspondence should be addressed.
Abstract
Gangliosidosis is a rare lysosomal storage disease. There have been about 200 cases reported, to date. The Overall prevalence at birth of GM1 Gangliosidosis is estimated to be 1 in 100,000 to 300,000. It is an inherited enzyme deficiency of beta-galactosidase, which results in the accumulation of glycosphingolipids within the lysosomes. It leads to neurological, skeletal and dermatological manifestations. Inferred GM1 Gangliosidosis is a lysosomal storage disorder, affected by mutations in GLB1, encoding beta-galactosidase. The range of severity is from type 1 infantile disease, lethal in early childhood, to type 3 adult on set, resulting in gradually progressive neurological symptoms in adulthood. The case report relates to a 13 months old patient with early infantile type of Gangliosidosis.
Keywords: Gangliosidosis, autosomal recessive inherited enzyme deficiency, beta-galactosidase, glycosphingolipids, lysosomes