GAUCHER'S DISEASE

rare inherited metabolic disorder characterized by anemia, mental and neurologic impairment, yellowish pigmentation of the skin, and bone deterioration resulting in pathological fractures. Gaucher's disease results when a defect in the body's synthesis of the enzyme glucocerebrosidase allows the lipid glucocerebroside to accumulate in the body's storage cells. Large, wrinkled-appearing cells, called Gaucher's cells, are usually found in the bone marrow. The disease is transmitted as an autosomal recessive trait. There are three forms of Gaucher's disease: adult, or type 1; infantile, or type 2; and juvenile, or type 3. The adult form is by far the most common of the three and has an especially high incidence among Ashkenazic Jews (1 in 2,500 births). Its chief symptoms are an enlarged spleen and erosion of the long bones. These symptoms are often mild in effect, though, and the lifespan of persons afflicted with type 1 is only slightly reduced on average. The infantile, or type 2, form results in enlargement of the spleen and liver, erosion of the long bones, and mental retardation in the first months of life; death from respiratory failure usually occurs by the second birthday. The juvenile, or type 3, form is similar to type 2 but has less effect on the central nervous system and develops more slowly; death usually occurs in early adolescence. Most cases of types 2 and 3 are apparently caused by a mutation in a gene located on chromosome 1.