Types of Gaucher Disease


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Types list: The list of types of Gaucher Disease mentioned in various sources includes:

  • Type 1 adult Gaucher disease - most common; adult Gaucher disease, or chronic non-neuronopathic
  • Type 2 infantile Gaucher disease - infantile, or acute neuronopathic
  • Type 3 juvenile Gaucher disease - juvenile, or subacute neuronopathic

Types discussion: Three clinical forms (phenotypes) of Gaucherís disease are commonly recognized. The first category, called type 1, is by far the most common. Patients in this group usually bruise easily and experience fatigue due to anemia, low blood platelets, enlargement of the liver and spleen, weakening of the skeleton, and in some instances, lung and kidney impairment. There are no signs of brain involvement. The onset of clinical manifestations may be early in life, or delayed until adulthood. The second group is classified as type 2. In this form, liver and spleen enlargement are apparent by 3 months of age. In addition, there is extensive and progressive brain damage. These patients usually die by 2 years of age. In the third category, called type 3, liver and spleen enlargement is variable, and signs of brain involvement such as seizures gradually become apparent. All of these patients exhibit a deficiency of an enzyme called glucocerebrosidase that catalyzes the first step in the biodegradation of glucocerebroside. Except for the brain, glucocerebroside arises mainly from the biodegradation of old red and white blood cells. In the brain, glucocerebroside arises from the turnover of complex lipids during brain development and the formation of the myelin sheath of nerves. 1

Footnotes:
1. excerpt from NINDS Gaucher's Disease Information Page: NINDS

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