Gaucher disease

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Definition

noun, plural: Gaucher disease

An autosomal recessive genetic disorder caused by a mutation in the GBA gene, and characterized by the accumulation of glucocerebrosides due to an inadequate functional glucocerebrosidase enzyme essential in normal fat metabolism


Supplement

Gaucher disease is a genetic disorder affecting the production of a functional enzyme glucocerebrosidase. The enzyme is essential in normal fat metabolism. Without it, glucocerebroside tends to accumulate in certain bodily organs or cells (e.g. macrophages). The glucocerebroside may accumulate in spleen, liver, bone marrow, brain, and other organs. The underlying cause of the disorder is a mutation in the gene on chromosome 1, and codes for the glucocerebrosidase. The condition is autosomal recessive, which means that the individual will exhibit this genetic disorder when two copies of the defective GBA gene (i.e. one from each parent) are present. The symptoms may not manifest on individuals with only one copy of the defective gene but they will be carriers of the genetic disorder.

Gaucher disease is one of the lysosomal storage diseases, and is the most common form. The symptoms may vary depending on the type of Gaucher disease. The primary symptoms are liver and spleen enlargement. Other symptoms include skeletal disorders, lymphadenopathy, trabeculae resorption, avascular necrosis, Erlenmeyer flask deformity, cerebroside lipidosis, and lytic/sclerotic changes. Gaucher disease may be classified into type I, type II, and type III. The name is derived from the French physician, Philippe C. Ernest Gaucher, who first described it.


Variant(s):

  • Gaucher's disease

Synonym(s):

  • cerebroside lipidosis
  • cerebrosidosis

See also: