Gaucher’s Disease
Gaucher's (pronounced ‘go-shey’) disease is a rare inherited disorder (meaning genetically linked) that affects many of the body's organs and tissues. In general population this disease affects 1 in 50,000 to 1,00,000 (0.001%) people.
The
symptoms of this biochemical disorder vary and the major features of this
disorder include enlarged liver and spleen (hepatosplenomegaly). This is an
enzyme (a biocatalyst) deficiency disorder. The enzyme that is deficient is
acid beta-glucosidase (aka,
glucocerebrosidase, among other names). Deficiency in turn is caused by mutation
in the GBA gene (refers to Glucosidase, Beta; Acid). As a result, affected
person’s body is unable to break down certain types of
fat leading to the accumulation of glucocerebroside in multiple
organs causing hepatosplenomegaly.
Treatments available for this condition are enzyme replacement therapy
(injecting the subject with the extraneously made enzyme), or surgical removal
of part of spleen and/or liver to improve affected person’s comfort.
This disease is named after
French physician Philippe Gaucher, who originally described this condition way
back in 1882. The biochemical basis of this disease was discovered in 1965 and
the treatment for the disease has been available since 1990s.
Contributor:
Duraiswamy Navaneetham PhD.
Temple University School of Medicine
Philadelphia, PA, USA July 2009
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