Two patients from Turkey with a novel variant in the GM2A gene and review of the literature.

Abstract excerpt

OBJECTIVES: GM2 gangliosidosis is a rare form of inborn errors of metabolism including Tay-Sachs disease, Sandhoff disease, and GM2 activator deficiency. GM2 activator protein deficiency is an ultra-rare form of GM2 gangliosidosis. To date, 16 cases of GM2 activator protein deficiency have been reported in the literature, and among them, 11 cases were the infantile form of the disease. Here we report the first...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Infant
• Share to Mutation