LSDDB

Wolman disease

This disease is caused due to the defect in lysosomal acid lipase. A lesser severe form of the disease is called cholestryl ester storage disease. The defective enzyme causes accumulation of triglycerides and cholestryl esters within the lysosomes thereby causing the disease. The gene encoding the defective enzyme LIPA is located at 10q23.2-q23.3 (Aguisanda, Thorne and Zheng, 2017).

Reference :
Aguisanda, F., Thorne, N. and Zheng, W. (2017) ‘Targeting Wolman Disease and Cholesteryl Ester Storage Disease: Disease Pathogenesis and Therapeutic Development’, Current Chemical Genomics and Translational Medicine, 11, pp. 1–18. doi: 10.2174/2213988501711010001.