Disease Classification

Gaucher disease is a panethnic disorder. It has been divided into three types based on the presence and severity of neurological involvement:

The most common type, it afflicts both children and adults. This type is more prevalent in people of Ashkenazi Jewish ancestry.^[1]

These less common forms of the disease are characterized by central nervous system involvement. Type 2 patients rarely survive to age 2. Type 3 is characterized by a variable course and is marked by slowly progressive neurological involvement.^[2]

Gaucher disease approximate frequency, onset, and course by type ^{[1, 2, 3, 4]}

In Genetics, you can learn more about the inheritance of this autosomal recessive disorder.

Go to Signs and Symptoms to learn about the wide-ranging effects of Gaucher disease.

References

1. Morales LE. Gaucher's disease: a review. Ann Pharmacother. 1996;30:381-388.

2. Grabowski GA. Lysosomal storage diseases. In: Braunwald E, Fauci AS, eds. Harrison's Principles of Internal Medicine. 15th ed. New York, NY: McGraw-Hill; 2001:2276-2281.

3. Zimran A, Gelbart T, Westwood B, et al. High frequency of the Gaucher disease mutation at nucleotide 1226 among Ashkenazi Jews. Am J Hum Genet. 1991;49:855-859.

4. Beutler E, Grabowski G. Gaucher disease. In:Scriber CR, Beaudet AL, Sly WS, et al, eds. The Metabolic and Molecular Bases of Inherited Disease. 7th ed. New York, NY: McGraw-Hill; 1995;2:2641-2661.