Dictionary > Farber disease

Farber disease

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
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.

  • lipogranulomatosis
  • fibrocytic dysmucopolysaccharidosis
  • ceramidase deficiency
  • Farbers lipogranulomatosis

See also:

  • lysosomal storage disease
  • sphingolipid

    You will also like...

    A chart depicting Mendel's Law of Dominance
    Mendel’s Law & Mendelian Genetics

    One of Mendel’s law of inheritance is the “law of dominance”. Read this tutorial to know more about this form of i..

    Freshwater Ecology
    Freshwater Ecology

    Freshwater ecology focuses on the relations of aquatic organisms to their freshwater habitats. There are two forms of co..

    Schematic diagram of DNA replication
    DNA Structure & DNA Replication

    DNA is a double helix structure comprised of nucleotides. A nucleotide, in turn, is made up of phosphate molecule, deoxy..

    Ecological Research Measuring & Analysis
    Ecological Research: Measuring & Analysis

    This lesson is about the methods used for ecological research, such as quadrat and transect sampling, canopy fogging, an..

    Growth Patterns
    Growth Patterns

    This tutorial describes the sigmoid curve, annual plant growth, tree growth, human growth, and insect growth as the grow..

    Pollution in Freshwater Ecosystems
    Pollution in Freshwater Ecosystems

    There are many environmental factors that arise due to the usage of water in one way or another and for every action tha..