Farber disease

From Ganfyd

Jump to: navigation, search

Farber disease (Farber lipogranulomatosis, acid ceramidase deficiency) is caused by functional mutations of the gene ASAH1 coding for acid ceramidase at 8p22-p21.3. which untreated produces death usually by 3 years of age associated with subcutaneous lipid-loaded nodules, severe motor and mental retardation, excruciating pain in the joints and extremities and marked accumulation of ceramide in lysosomes.