Definition:
Similar to Gaucher Disease Type II, Gaucher Disease Type III is very rare, affecting one in every 100,000 babies. Although this disorder occurs within the general population, it is highly prevalent in the Swedish provinces of Norrbotten and Vasterbotten. Increased prevalence rates have also been reported in Japan and Spain. This disease affects males and females equally.

Similar to Type I and Type II, Gaucher Disease Type III results from the deficiency of glucocerebrosidase, the enzyme necessary for the breakdown of a particular fatty substance, glucocerebroside. Glucocerebroside accumulates inside the lysosome and causes the cell to become engorged. These engorged cells are called Gaucher cells and have a bloated appearence under the microscope.

Symptoms:
Symptoms can appear between early infancy and the affected child’s early teenage years. Given that this disorder affects the child’s central nervous system, symptoms such as irregular eye movements, seizures, and mental retardation occur. It also affects the body’s organs as well and mirrors many of the symptoms of Gaucher Disease Type I, such as abnormal skeletal formation, enlarged spleen, anemia, bruising, and blood clotting.

Inheritance Pattern:
Gaucher Disease Type III is an autosomal recessive disorder.

Life Expectancy:
Those individuals with Gaucher Disease Type III who live until their adolescence also have a significant chance of living into their thirties.

Diagnosis and Testing:
A blood or skin test is performed to confirm a diagnosis of Gaucher Disease Type III. This blood test measures the amount of the enzyme glucocerebrosidase and compares it to normal enzyme activity levels. If this disorder is present, low levels of this enzyme will be present. Additional tests can be performed to determine the severity of the disorder.  X-rays, MRI’s, and CT scans can be performed to detect skeletal abnormalities. Further blood tests can also measure low platelet counts and liver function. MRI’s and CT scans can also measure the spleen and liver.  Nerve tests can be performed to survey how the nerves and brain have been affected.

Anyone with a family member who has Gaucher Disease, as well as anyone who displays the symptoms of Gaucher Disease, would be a candidate for such tests.

Treatment:
Treatment for Gaucher Disease Type III includes pain management. Various therapies can reduce the pain associated with this disorder. Blood transfusions can help treat the anemia that may occur in some individuals.   Psychological counseling is encouraged to help families manage some of the emotional toll this disorder imparts. Enzyme replacement therapy does not prevent the nervous system damage that occurs in Gaucher Disease Type III, but can effectively treat the systemic manifestations.  Recent studies suggest that enzyme replacement therapy, when combined with miglustat, may be beneficial for Gaucher Type III.

Patient Groups:
Children's Gaucher Disease Research Fund
P.O. Box 2123
Granite Bay, CA 95746
www.childrensgaucher.org
tel: (916) 797-3700
fax: (916) 797-3707
Gregory Macres, Founder, Chairman
research@childrensgaucher.org

National Gaucher Foundation
2227 Idlewood Road, Suite 12
Tucker, GA 30084
www.gaucherdisease.org
tel: (800) 504-3189
fax: (770) 934-2911
Rhonda P. Buyers, Executive Director
rhonda@gaucherdisease.org

National Tay-Sachs & Allied Diseases Association
2001 Beacon Street, Suite 204
Boston, MA 02135
www.ntsad.org
tel: (800) 906-8723
fax: (617) 277-0134
Sue R. Kahn, Executive Director
info@ntsad.org