<unk>  (also known as<unk> '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.
Farber disease
Keshan disease
Akureyri disease
Batten disease
Borna disease
Menkes disease
Bosch-Boonstra-Schaaf optic atrophy syndrome
Karak syndrome