LSDDB

Danon Disease

The disease is caused due to the defect in LAMP2 (lysosomal associated membrane protein-2). The defect causes the accumulation of glycogen within the lysosomes. The gene for the LAMP2 protein is located at Xq24 (Xu et al., 2021).

Reference :
Xu, J. et al. (2021) ‘Danon disease: a case report and literature review’, Diagnostic Pathology, 16(1), p. 39. doi: 10.1186/s13000-021-01100-8.