Screen Readers Skip to Content

Gaucher Disease Information

Outline: Gaucher disease is an inherited metabolic disorder in which fatty substance called glucocerebroside accumulate in the spleen liver lungs bone marrow and the brain.

Main Digest

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.

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.

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

In GD Type 2, liver and spleen enlargement are apparent by 3 months of age. Children have extensive and progressive brain damage and usually die by 2 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 demonstration of deficient glucosylceramidase enzyme activity in peripheral blood leukocytes or other nucleated cells. Identification of two disease-causing alleles in GBA, the only gene known to be associated with GD, provides additional confirmation of the diagnosis but not in lieu of biochemical testing. Molecular genetic testing using sequence analysis identifies mutations in the majority of 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 years.


Similar Documents

Help Spread Disability Awareness
Connect with Us on Social Media
Reddit
Cite:
Journal: Disabled World. Language: English. Author: Sally Rider. Electronic Publication Date: 2009/04/02. Last Revised Date: 2009/04/02. Reference Title: "Gaucher Disease Information", Source: Gaucher Disease Information. Abstract: Gaucher disease is an inherited metabolic disorder in which fatty substance called glucocerebroside accumulate in the spleen liver lungs bone marrow and the brain. Retrieved 2019-11-12, from https://www.disabled-world.com/health/pediatric/gaucher-disease.php - Reference Category Number: DW#233-1323.
Important Disclaimer:
Information provided on disabled-world.com is for general informational purpose only, it is not offered as and does not constitute medical advice. In no way are any of the materials presented meant to be a substitute for professional medical care or attention by a qualified practitioner, nor should they be construed as such. Any 3rd party offering or advertising on disabled-world.com does not constitute endorsement by Disabled World. Please report outdated or inaccurate information to us.