Farber disease

Farber disease is an extremely rare, progressive lysosomal storage disease inherited in an autosomal recessive pattern. It is caused by a deficiency of the enzyme acid ceramidase, which normally breaks down the fatty substance ceramide into sphingosine and a fatty acid. When the enzyme is missing or deficient, ceramide accumulates inside the lysosomes of cells, and this buildup gives rise to the signs and symptoms of the disorder. The condition is also known as Farber lipogranulomatosis, acid ceramidase deficiency, lipogranulomatosis and ASAH1-related disorders. This entry records the classification, cause and alternative names given in the lead of the cited English Wikipedia article and does not offer medical advice.