Gaucher disease
Alternative names:
glucocerebroside storage disease; GSDI
Definition:
An inherited deficiency of glucocerebroside(CGR)
in which abnormal amounts of glucocerebroside (cerebroside
with the carbohydrate
glucose contained in the molecule) cannot be metabolized and
are stored within the reticuloendothelial cells in various
body tissues.
Causes, incidence, and risk factors:
This means both parents are carriers of the trait but do
not suffer from the disease themselves. The adult-chronic
form is more common among Ashkenazi Jews (of central or eastern
European descent), with a reported incidence
of 1 out of 500 - 1000 births. Several other well-defined
ethnic population with high prevalence of various CGR abnormalities
have been identified. The condition may be present as an infantile,
juvenile or chronic form.
The chronic form is most common and can be diagnosed in any
age. The juvenile form of Gaucher disease occurs in all nationalities
and is also inherited as an autosomal recessive disorder.
With all forms, abnormal deposits of glucocerebroside
occur in the liver, spleen, and bone marrow. Juvenile forms
of the disease may or may not be characterized by neuronopathic
involvement. In the chronic form of Gaucher, an enlarged
spleen (splenomegaly)
may be the first sign of disease. Damage to the bone marrow
may cause anemia and
associated problems. . Bone involvement can be painful and
progressively disabling. Death can occur from bone marrow
failure in untreated disease.
The infantile form, in addition to spleen and bone marrow
damage, causes seizures
and damage to the central
nervous system (CNS).
TThe juvenile form can begin in childhood, often the teens,
and causes spleen, bone marrow, and CNS damage. Central nervous
system symptoms include abnormal gait (ataxia),
paralysis of eye muscles
(ophthalmoplegia), and dementia.
Updated Date: 06/22/00
Mark Levin, MD Co-Director of Hematology
and Oncology, Director of the Gaucher Treatment Center of
Brooklyn Brookdale University Hospital and Medical Center
Brooklyn, NY
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