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Gaucher's 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.

Subtypes

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

Diagnosis

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.

Read more at Wikipedia.org


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First drug for Gaucher's disease - Food and Drug Administration approves Genzyme Corp.'s Ceredase
From FDA Consumer, 7/1/91

The first drug to treat Gaucher's disease, a rare, inherited disease that causes anemia and enlargement of the liver and spleen, was approved by FDA in April.

The drug, Ceredase (alglucerase), replaces a missing enzyme that is responsible for breaking down glycolipid, an important body fat. Without the enzyme, glycolipid accumulates in the spleen, liver and bone marrow. The resulting anemia and enlargement of the liver and spleen may cause symptoms such as grossly distended abdomen, fragile and painful bones that may fracture repeatedly, increased bruising and bleeding, and fatigue.

FDA has approved Ceredase to treat moderate-to-severe Type I Gaucher's disease, the most common form. (Two other, even rarer, forms of Gaucher's disease, Types II and III, cause lipid storage in the nervous system, resulting in progressive brain damage and death.) Of the approximately 10,000 to 15,000 Americans with Type I Gaucher's disease, about 3,000 have symptoms serious enough to need treatment. Previously, severe cases of Type I Gaucher's disease were treated by spleen removal and bone marrow transplants, both of which carry substantial risks.

Type I Gaucher's disease primarily affects Jews of Eastern European descent, as many as 1 in 10 of whom carry the defective gene.

Scientists with the National Institute of Neurological Disorders and Stroke tested the effectiveness of Ceredase in a 10-month clinical trial with 24 Type I Gaucher's patients, 12 of whom received intravenous treatment every two weeks. The enzyme replacement therapy decreased spleen enlargement and reversed anemia in all patients and boosted platelet counts and reduced liver size in several patients.

Through its Treatment IND Program. FDA made Ceredase available to desperately ill patients before final approval. The agency also designated the products as "orphan" drugs, a status that gives companies financial incentives to research and seek approval for products used by small patient populations.

Ceredase will be marketed by its commercial developer, Genzyme Corp. of Cambridge, Mass.

COPYRIGHT 1991 U.S. Government Printing Office
COPYRIGHT 2004 Gale Group

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