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Metabolic Disorders
Calcium Imbalance
Chloride Imbalance
Gaucher's Disease
Glycogen Storage Diseases
Lactose Intolerance
Magnesium Imbalance
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Metabolic Alkalosis
Phosphorus Imbalance
Potassium Imbalance
Sodium Imbalance
Syndrome of Inappropriate Antidiuretic Hormone Secretion
Tay-Sachs Disease

Gaucher's Disease

What is Gaucher's Disease ?

Gaucher's disease, the most common lipidosis, causes an abnormal accumulation of glucocerebrosides in reticuloendothelial cells. It occurs in three forms: type 1(adult), type 2 (infantile), and type 3 (juvenile). Type 1 may be diagnosed at any age and is 30 times more prevalent in people of Ashkenazic Jewish ancestry. Type 2 and 3 are less common and occur mainly in non-jewish populations. Type 2 can be fatal within 9 months of onset, usually from pulmonary involvement.

Causes of Gaucher's Disease

Gaucher's disease results from an autosomal recesive inheritance, which causes decreased activity of the enzyme glucosylceramide B-glucosidase.

Signs & Symptoms of Gaucher's Disease

  • Hypersplenism: increased destruction of red and white blood cells and platelets, leading to anemia, neutropenia and thrombocytopenia
  • Yellowish-brown skin pigmentation
  • Cirrhosis of the liver is rare
  • No cardiac, renal and pulmonary signs
  • In adult, Enlarged spleen and liver
  • Tendency to bleed due to reduced platelets
  • Bone pain (bone crisis)

Diagnostic Tests

Bone marrow aspiration shows typical Gaucher's cells.

Direct assay of glucosylceramide B-glucosidase activity in blood, bone marrow, skin, or amniotic fluid samples shows absent or deficient activity, confirming the diagnosis.

Liver biopsy reveals increased glucosylceramide accumulation.

Supportive laboratory results include increased serum acid phosphatase level and decreased platelet count and serum iron level.

Magnetic resonance imaging is used to evaluate bone, liver, and spleen involvement.


Therapy involves treating the underlying enzyme defect with alglucerase. This drug acts by replacing the missing enzyme in type I Gaucher's disease. Imiglucerase, produced by recombinant deoxyribonucleic acid technology, acts in much the same way. Supportive treatment consists of vitamins, supplemental iron or liver extract to prevent anemia caused by iron deficiency and to alleviate other hematologic problems, blood transfusions for anemia, splenectomy for hypersplenism, and analgesics for bone pain. Bone marrow transplantation may be performed in Gaucher's disease, but various studies of this treatment report a mortality ranging from 20% to 50%.

Prevention Tips

Genetic counseling is recommended for prospective parents with a family history of Gaucher disease. Testing can determine if parents carry the gene that could pass on the Gaucher disease. A prenatal test can also tell if the fetus has Gaucher syndrome.

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