LSDDB

Farber disease

The disease is also called as lipogranulomatosis. It is caused due to the defective or deficient activity of acid ceramidase enzyme. Defective or deficient enzyme affects the normal metabolism of neutral lipids and further in the accumulation of ceramides mainly in the joints. The gene encoding enzyme ASAH1 is located at 8p22-p21.3 (Devi et al., 2006).

Reference :
Devi, A. R. R. et al. (2006) ‘Farber lipogranulomatosis: clinical and molecular genetic analysis reveals a novel mutation in an Indian family’, Journal of Human Genetics, 51(9), pp. 811–814. doi: 10.1007/s10038-006-0019-z.