Close
Close

Gaucher disease (GD) is a genetic disorder in which glucocerebroside (a sphingolipid, also known as glucosylceramide) accumulates in cells and certain organs. The disorder is characterized by bruising, fatigue, anemia, low blood platelet count and enlargement of the liver and spleen, and is caused by a hereditary deficiency of the enzyme glucocerebrosidase (also known as glucosylceramidase), which acts on glucocerebroside. When the enzyme is defective, glucocerebroside accumulates, particularly in white blood cells and especially in macrophages (mononuclear leukocytes). Glucocerebroside can be collecedt in the spleen, liver, kidneys, lungs, brain, and bone marrow.

Manifestations may include enlarged spleen and liver, liver malfunction, skeletal disorders or bone lesions that may be painful, severe neurological complications, swelling of lymph nodes and (occasionally) adjacent joints, distended abdomen, a brownish tint to the skin, anemia, low blood platelet count, and yellow fatty deposits on the white of the eye (sclera). Persons seriously affected may also be more susceptible to infection. Some forms of Gaucher's disease may be treated with enzyme replacement therapy.

The disease is caused by a recessive mutation in a gene located on chromosome 1 and affects both males and females. Gaucher's disease is the most common of the lysosomal storage diseases. It is a form of sphingolipidosis (a subgroup of lysosomal storage diseases), as it involves dysfunctional metabolism of sphingolipids.

The disease is named after the French physician Philippe Gaucher, who originally described it in 1882.

Professor Atul Mehta, professor of haematology at the Royal Free explains how Gaucher disease can be treated and managed with enzyme-replacement therapy at the Royal Free's lysosomal storage disorders unit and at home.

by Abidemi Uruejoma
7 views 11 hours ago
by Scott Harwood
8 views 2 days ago
by Scott Harwood
15 views 5 days ago
by Abidemi Uruejoma
22 views 6 days ago
by Abidemi Uruejoma
29 views 1 week ago
by Scott Harwood
24 views 1 week ago
by Scott Harwood
20 views 1 week ago
by Abidemi Uruejoma
28 views 1 week ago
1.0
1.0 from 1 vote
Free Newsletter
Find a Clinical Trial
Related Videos