Problem

Farber disease

Nature:

Farber disease (also known as Farber's lipogranulomatosis, acid ceramidase deficiency, "Lipogranulomatosis", and ASAH1-related disorders) is an extremely rare, progressive, autosomal recessive lysosomal storage disease caused by a deficiency of the acid ceramidase enzyme. Acid ceramidase is responsible for breaking down ceramide into sphingosine and fatty acid. When the enzyme is deficient, this leads to an accumulation of fatty material (called ceramide) in the lysosomes of the cells, leading to the signs and symptoms of this disorder.

Broader Problems:
Congenital disorders of lipid metabolism
Subject(s):
Medicine → Pathology??
Problem Type:
G: Very specific problems
Date of last update
24.08.1999 – 00:00 CEST