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Gaucher disease
Definition:
Gaucher disease is an inherited deficiency of the enzyme glucosidase, which results in the buildup of a toxic substance (glucosylceramide) in different parts of the body, such as the spleen, liver, and bones. Alternative Names:
Glucocerebrosidase Deficiency; Glucosylceramidase Deficiency Text Continues Below
Causes, incidence, and risk factors:
Gaucher Disease is an inherited disorder that affects an estimated 1 in 50,000 to 1 in 100,000 people in the general population. Individuals of Eastern and Central European (Ashkenazi) Jewish heritage are at higher risk for being affected. Deficiency of the enzyme glucocerebrosidase causes the lysosomes to become congested with glucosylceramide. These congested lysosomes buildup in the liver, spleen, bones, and bone marrow. This, in turn, leads to decreased production of red blood cells (anemia), and thinning of the bones (osteopenia). It is an autosomal recessive disease. This means that an affected child would inherit two abnormal copies of the enzyme, one from the mother and one from the father. The parents are known as carriers since they do not have the disease, but silently harbor one abnormal copy of the gene. There are five subtypes of Gaucher Disease. - Type 1 disease is most common. It is characterized by bone disease, anemia, an enlarged spleen and thrombocytopenia. Type I affects both children and adults. It is most prevalent in the Ashkenazi Jewish population, affecting anywhere from 1 out of 500-1,000 births.
- Type 2 disease usually begins in infancy with severe neurologic involvement. This form can lead to rapid, early death.
- Type 3 disease typically is marked by primary neurologic involvement and runs a slower, more favorable course.
- Type 4 is a marked by dry, rough, scaly skin and severe edema upon birth, and is deadly.
- Type 5 is a cardiovascular form characterized by calcification of heart valves, a mildly enlarged spleen, and eye problems.
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