Gaucher Disease: General Overview

Definition

Gaucher Disease

Gaucher's disease or Gaucher disease (GD) is a genetic disorder in which glucocerebroside (a sphingolipid, also known as glucosylceramide) accumulates in cells and specific organs. The condition is characterized by bruising, fatigue, anemia, low blood platelet count, and liver and spleen enlargement. It is caused by a hereditary deficiency of the enzyme glucocerebrosidase (also known as glucosylceramidase), which acts on the glucocerebroside. Type 1 Gaucher disease is the most common form of this condition. Type 1 is also called non-neuronopathic Gaucher disease because the brain and spinal cord (the central nervous system) are usually not affected. Types 2 and 3 of Gaucher disease are known as neuronopathic forms of the disorder because they are characterized by problems that affect the central nervous system. In addition to the signs and symptoms described above, these conditions can cause abnormal eye movements, seizures, and brain damage. The most severe type of Gaucher disease is called the perinatal lethal form. This condition causes severe or life-threatening complications starting before birth or in infancy. Another form of Gaucher disease is the cardiovascular type because it primarily affects the heart, causing the valves to harden (calcify).

Main Digest

Alternative Names: Gaucher disease-Type 2; GD2; Gaucher disease, infantile cerebral; Gaucher disease, acute neuronopathic type; Gaucher's disease type 2; Gaucher's disease type 2; Gaucher syndrome type 2.

Gaucher disease (GD) is an inherited metabolic disorder in which harmful quantities of a fatty substance called glucocerebroside accumulate in the spleen, liver, lungs, bone marrow, and sometimes in the brain.

The U.S. Social Security Administration (SSA) has included Gaucher Disease (GD) Type 2 as a Compassionate Allowance to expedite a disability claim.

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GD type 1:

Characterized by clinical or radiographic evidence of bone disease (osteopenia, focal lytic or sclerotic lesions, and osteonecrosis), hepatosplenomegaly, anemia and thrombocytopenia, lung disease, and the absence of primary central nervous system disease.

GD types 2 and 3:

Characterized by the presence of primary neurologic disease; in the past, they were distinguished by the age of onset and rate of disease progression, but these distinctions are not absolute. In GD Type 2, liver and spleen enlargement are apparent within three months. Children have extensive and progressive brain damage and usually die by two years of age.

All GD individuals exhibit a deficiency of an enzyme called glucocerebrosidase that is involved in the breakdown and recycling of glucocerebroside. The buildup of this fatty material within cells prevents the cells and organs from functioning properly. GD is one of several lipid storage diseases.

The diagnosis of GD relies on demonstrating deficient glucosylceramidase enzyme activity in peripheral blood leukocytes or other nucleated cells.

Identification of two disease-causing alleles in GBA, the only gene associated with GD, provides additional confirmation of the diagnosis but not instead of biochemical testing.

Molecular genetic testing using sequence analysis identifies mutations in most affected individuals.

There is no effective treatment for the severe brain damage that may occur in children with GD Type 2.

The prognosis for children with GD Type 2 with onset before age two years is limited psychomotor development and a rapidly progressive course with death by age two to four.

Gaucher Disease Therapy Approved by FDA

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