Acid β-glucosidase
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Gaucher Disease

Gaucher disease (pronounced "Go-shay") is the most common of the lipid storage diseases. It is caused by a deficiency of the enzyme glucocerebrosidase, leading to an accumulation of its substrate, the fatty substance glucocerebroside. Fatty material can collect in the spleen, liver, kidneys, lungs, brain and bone marrow. Symptoms may include enlarged spleen and liver, liver malfunction, skeletal disorders and bone lesions that may cause pain, severe neurologic complications, swelling of lymph nodes and (occasionally) adjacent joints, distended abdomen, a brownish tint to the skin, anemia, low blood platelets and yellow spots in the eyes. Persons affected most seriously may also be more susceptible to infection. more...

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The disease affects males and females equally. It is the most common lysosomal storage disease. It is named after the French doctor who originally described it in 1882.


Gaucher disease has three common clinical subtypes. Type 1 (or nonneuropathic type) is the most common form of the disease. It occurs most often among persons of Ashkenazi Jewish heritage. Symptoms may begin early in life or in adulthood and include enlarged liver and grossly enlarged spleen, which can rupture and cause additional complications. Skeletal weakness and bone disease may be extensive. The brain is not affected, but there may be lung and, rarely, kidney impairment. Patients in this group usually bruise easily and experience fatigue due to low blood platelets. Depending on disease onset and severity, type 1 patients may live well into adulthood. Many patients have a mild form of the disease or may not show any symptoms. Type 2 (or acute infantile neuropathic Gaucher disease) typically begins within 3 months of birth. Symptoms include an enlarged liver and spleen, extensive and progressive brain damage, eye movement disorders, spasticity, seizures, limb rigidity, and a poor ability to suck and swallow. Affected children usually die by age 2. Type 3 (the chronic neuronopathic form) can begin at any time in childhood or even in adulthood. It is characterized by slowly progressive but milder neurologic symptoms compared to the acute or type 2 version. Major symptoms include an enlarged spleen and/or liver, seizures, poor coordination, skeletal irregularities, eye movement disorders, blood disorders including anemia and respiratory problems. Patients often live to their early teen years and often into adulthood.

Signs and symptoms

  • Painless hepatomegaly and splenomegaly; the spleen can be 1500-3000 ml, as opposed to the normal size of 50-200 ml.
  • Hypersplenism: increased destruction of red and white blood cells and platelets, leading to anemia, neutropenia and thrombopenia (with an increased risk of infection and bleeding)
  • Cirrhosis of the liver is rare
  • Neurological symptoms occur only in some types of Gaucher's (see below):
    • Type II: serious convulsions, hypertonia, mental retardation, apnea.
    • Type III: myoclonus, convulsions, dementia, ocular muscle apraxia.
  • Osteoporosis: 75% develop visible bony abnormalities due to the accumulated glucosylceramide. Erlenmeyer flask deformity of the distal femur.
  • Yellowish-brown skin pigmentation
  • No cardiac, renal and pulmonary signs


In populations with high rates of carriage (Ashkenazi Jews and Norrbottnian Swedes), some family members of the index patient may already have been diagnosed with Gaucher's. Truly sporadic cases may suffer diagnostic delay due to the protean symptoms.


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Gaucher's disease: diagnosis and treatment - Tips from Other Journals
From American Family Physician, 4/1/94

Although typically considered a rare hereditary condition, Gaudier's disease is actually the most common of the glycolipid storage disorders. A genetic deficiency in the enzyme beta-glucosidase leads to the accumulation of the glycolipid glucocerebroside. Development of new screening tests has simplified its diagnosis. An improved understanding of the pathogenesis of the disease has greatly improved the quality of life of patients with Gaucher's disease. Beutler reviews the diagnosis and treatment of Gaucher's disease.

The disease has a frequency of about one case per 1,000 in the Ashkenazi Jewish population. Three types may occur: Type I the most common form, is characterized by sparing of the central nervous system from the primary effects of glycolipid accumulation. Type II, in contrast, is a rare but acute form leading to death in the first few years of life from central nervous system glycolipid accumulation. Patients with type III disease have a chronic course with late neurologic involvement.

Type I Gaucher's disease progresses in early childhood until age five or six. Commonly, children present with enlargement of the spleen and liver, with associated thrombocytopenia, anemia and leukopenia. Bone involvement, with pathologic fractures, recurrent pain and aseptic necrosis of the femoral head, is a troublesome complication. The diagnosis is made by detecting abnormal leukocyte beta-glucosidase activity or the mutations in DNA known to produce the disease. The DNA analysis, although recommended as a primary measure to diagnose the disease in Jewish patients, is considered much less reliable in non-Jewish patients.

The current treatment for Gaucher's disease includes enzyme replacement therapy with alglucerase, a prohibitively costly drug. Studies are under way to determine the most effective dosages. Recent data demonstrate that giving smaller doses three times weekly rather than a large dose every two weeks may be more cost-effective. Symptomatic management may include hip replacement in cases of aseptic necrosis of a femoral head and splenectomy in cases of thrombocytopenia.

The need for routine screening of the Jewish population for the carrier state, as in the case of Tay-Sachs disease, with prenatal counseling and diagnosis offered to couples when both are carriers, is under debate. The clinical course of Gaucher's disease is often benign and does not always produce the catastrophic problems of Tay-Sachs disease. (American Journal of Diseases of Children, November 1993, vol. 147, p. 1175.)

COPYRIGHT 1994 American Academy of Family Physicians
COPYRIGHT 2004 Gale Group

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