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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...

Gardner's syndrome
Gastric Dumping Syndrome
Gastroesophageal reflux
Gaucher Disease
Gaucher's disease
Gelineau disease
Genu varum
Geographic tongue
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Glycogenosis type IV
Goldenhar syndrome
Goodpasture's syndrome
Graft versus host disease
Graves' disease
Great vessels transposition
Growth hormone deficiency
Guillain-Barré syndrome

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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New insights into Gaucher's tricky course - Gaucher's disease
From Science News, 8/26/89 by R. Weiss

New insights into Gaucher's tricky course

In the 107 years since Philippe Gaucher wrote his doctoral thesis about a Parisian patient with an enlarged spleen, physicians have remained baffled by the disease that today bears his name. Gaucher's disease, an inherited enzyme deficiency, affects more than 20,000 people in the United States and is especially prevalent among Jews of Eastern European ancestry. Oddly, the disorder ranges in severity from almost asymptomatic to fatal. Even among members of a single family, physicians find little correlation between the apparent degree of bio-chemical abnormality and the disease's clinical course.

In the past two years, however, molecular biologists have identified a handful of specific mutations on chromosome 1 that alone or in combination can cause Gaucher's. Now, in the largest studies of their kind, two research teams have discovered significant associations between particular combinations of genetic mutations and the severity of Gaucher's disease. If further experiments confirm the findings, genetic tests may soon provide useful information to people with Gaucher's, at-risk women considering pregnancy, and researchers investigating new therapies.

Ari Zimran, Ernest Beutler and their colleagues at the Scripps Clinic and Research Foundation, working with Stategene Cloning Systems in La Jolla, Calif., studied 47 unrelated patients with Type I Gaucher's disease. Type I represents the most common and least severe of three forms of the disease, but its symptoms still range from almost nonexistent (many cases probably never get diagnosed) to spleen and liver failure with periods of extremely painful bone disease. The researchers used gene amplification techniques to detect specific mutations in the gene coding for the enzyme glucocerebrosidase. A deficiency of that enzyme in Gaucher's patients causes a damaging accumulation of fats in bone marrow and other cells.

The researchers found that the most common Gaucher-related mutation, called 1226, usually causes only mild disease when inherited from both parents. More severe disease appears when a 1226 from one parent appears with a different mutation, called 1448, from the other parent. With two copies of 1448, even more serious symptoms arise, they report in the Aug. 12 LANCET.

Work by Gregory A. Grabowski and his colleagues at the Mount Sinai School of Medicine in New York City generally affirms the La Jolla researchers' findings. In their report in the August AMERICAN JOURNAL OF HUMAN GENETICS, they also suggest that a previously identified mutation of the glucocerebrosidase gene may in fact lessen symptoms in patients with another Gaucher's mutation.

"For a long time we've wanted to predict severity of disease early on," Grabowski says, noting that genetic tests capable of detecting Gaucher's in fetuses are in demand from pregnant women considering abortion and from mothers choosing among the limited therapies for an affected child. For example, some doctors recommend bone marrow transplants--despite a high risk of mortality--for children developing the most severe form of Gaucher's. And patients with confirmed poor prognoses may be good candidates for current experimental therapies that involve taking supplemental doses of laboratory-produced glucocerebrosidase, Beutler says.

The new findings don't fully solve the puzzle, say researchers studying the disease. Definitions of mild, moderate and severe Gaucher's remain frustratingly subjective, the number of patients studied remains small, and one or several as-yet-unidentified genes no doubt play an important role. "Someday we'll be able to apply genotypes to clinical prognoses," says Edward I. Ginns of the National Institute of Mental Health in Bethesda, Md. "But it's premature to say we're there already."

COPYRIGHT 1989 Science Service, Inc.
COPYRIGHT 2004 Gale Group

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