Gangliosidosis is described as the accumulation of Glycosphingolipids (Gangliosides) as a result of a defective enzyme or its stimulating factors impairing its metabolism. On the outer membrane of neurons, sialylated glycosphingolipids are particularly prevalent. Glycosphingolipids or their catabolites have been implicated in cell differentiation and morphogenesis in a number of investigations. genesis. The disease’s prognosis is mostly determined by residual -hexosaminidase activity, pre-polypeptide chain mRNA, and the status of the HEXB gene. The HEXB gene, on the other hand, is responsible for the majority of the primary gene deficiency. Early infantile gangliosidosis has an aetiology and pathophysiology that are currently unknown. Because it is an autosomal recessive condition, pre-marital screening of individuals can reduce the disease’s incidence.

Author (S) Details

Hamaiyal Sana
Bolan Medical College Quetta, Balochistan, Pakistan.

Abdul Qahar Khan Yasinzai
Bolan Medical College Quetta, Balochistan, Pakistan.

Noorain Baloch
Bolan Medical College Quetta, Balochistan, Pakistan.

Janita Zarrish
Bolan Medical College Quetta, Balochistan, Pakistan.

Fida Mengal
Bolan Medical College Quetta, Balochistan, Pakistan.

Muhammad Samsoor Zarak
Bolan Medical College Quetta, Balochistan, Pakistan.

View Book :- https://stm.bookpi.org/CDHR-V10/article/view/2546