Dictionary > Farber disease

Farber disease

Definition
noun
A type of lysosomal storage disease that is often caused by a deficiency in the enzyme ceramidase resulting in the accumulation of sphingolipids in the lysosomes, and thereby leads to abnormalities in joints, throat, liver, and central nervous system
Supplement
Lysosomal storage disease is a collective term for the various metabolic disorders due to defects in lysosomal function resulting in an abnormal accumulation of toxic materials in the cell. One of them is Farber disease.
Farber disease is a genetic disorder caused by a defective gene associated with the production of the enzyme ceramidase. This enzyme is essential in breaking down cellular fatty material. Without sufficient ceramidase, there would be an accumulation of fatty material such as sphingolipids in the lysosomes.
Farber disease may be inherited in autosomal recessive manner. This means that when an individual receives one copy of the defective gene the symptoms may not be present (or will be milder) but will serve as a carrier. When two copies of the defective gene are inherited from both parents, symptoms of the disease manifest. In humans, the ASAH1 gene encodes for the acid ceramidase.
Synonym(s):

  • lipogranulomatosis
  • fibrocytic dysmucopolysaccharidosis
  • ceramidase deficiency
  • Farbers lipogranulomatosis

See also:

  • lysosomal storage disease
  • sphingolipid


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