Late Onset Pompe Disease in India – beyond the Caucasian phenotype

Pompe disease, also known as ‘acid maltase deficiency'or ‘glycogen storage disorder type II’ is an autosomal recessive lysosomal storage disorder caused by mutations in the gene encoding acid-α glucosidase (GAA), an enzyme which degrades glycogen to glucose within the lysosomes. It is characterized by accumulation of gly cogen in various tissues of the affected individuals resultant to the deficiency of GAA [1,2]. This excess of glycogen causes swelling and rupture of the lysosomes with loss of glycogen to the cytoplasm, cellular dysfunction and progressive damage to the skeletal, cardiac and smooth muscles [3].

Source: Neuromuscular Disorders - February 16, 2021 Category: Neurology Authors: Ratna Dua Puri, Nitika Setia, Vinu N, Sujatha Jagadeesh, Sheela Nampoothiri, Neerja Gupta, Mamta Muranjan, Meenakshi Bhat, Katta M Girisha, Madhulika Kabra, Jyotsna Verma, Divya C. Thomas, Ishpreet Biji, Jayarekha Raja, Ravinder Makkar, Ishwar C Verma, Pr Source Type: research