For over a decade now, the Fullerton Genetics Center at Mission Hospital has been involved in providing treatment for several lysosomal storage diseases (LSD).
LSDs are a group of more than 40 disorders caused by certain enzyme deficiencies. People with LSD lack or have too little of a particular enzyme. These enzymes are located in the lysosome which is a special compartment of the cell. Due to this enzyme deficiency, molecules that are meant to be broken down by the specific enzyme build up within the lysosome and prevent the cell from working properly. Symptoms vary considerably but can be serious and life threatening. Once symptoms appear, they tend to be progressive. For some LSD treatment is available and for others, research and clinical trials are underway. Individual lysosomal disorders are rare, but as a group they are thought to affect 1 in 7,700 births. Living with an LSD means living with a rare disease that is often not well understood.
At the Fullerton Genetics Center, we follow a number of patients with LSD and have participated in clinical research trials for several diseases. We attend annual conferences to stay up to date on current treatment and work to be a resource for patients and their primary care physicians.
This clinical expertise is appreciated by patients who often face a medical community with no knowledge of these rare disorders. Patients come from various areas to receive treatment and participate in clinical trials including: North Carolina, South Carolina, and Virginia. Currently clinical trials are ongoing for Maroteaux-Lamy (MPS VI) and Fabry Disease.
Conditions treated through the Fullerton Genetics Center include:
- Fabry Disease
- Gaucher Disease
- Pompe Disease
- Hurler Syndrome (MPS I)
- Hunter Syndrome
- Maroteaux-Lamy (MPS VI)
Fabry Disease
Fabry Disease is caused by deficiency of the enzyme galactosidase A which leads to progressive accumulation of glycoshingolipids in tissues throughout the body. Symptoms usually begin in childhood or adolescence but are often misdiagnosed well into adulthood. These symptoms can include: pain and tingling especially in the hands and feet, episodal pain crisis, decreased sweating, heat and cold intolerance, fatigue, and increased risk for renal failure, heart disease, and stroke. Treatment is available through IV infusion of enzyme replacement.
For additional resources:
www.fabrycommunity.com
www.fabry.org
www.TheNFDF.org
www.lysosomallearning.com
www.geneclinics.org
Gaucher Disease
Gaucher Disease, which is the most common LSD, is caused by a deficiency of glucocerebrosidase, an enzyme whose job is to break down naturally occurring cellular waste. Because of the deficiency, fatty deposits (known as Gaucher cells) build up in the body, displacing normal cells. These cells accumulate in organs throughout the body especially in the liver, spleen, and bone marrow. This can cause significant enlargement of the liver and spleen, fatigue, a tendency to bleed and bruise more easily, weak and painful bones, and joint deterioration. Treatment is clinically available though IV infusion of enzyme replacement product. Additional therapies are being investigated in clinical research trials.
www.gauchercare.com
Pompe Disease
Pompe Disease, also known as acid maltase deficiency (AMD) or glycogen storage disease Type II (GSD-II) is caused by a deficiency of the enzyme acid alphaglucosidase, which is responsible for the breakdown of glycogen (a form of sugar) in the muscle tissue. The build-up of glycogen results in progressive deterioration of certain muscle cells and respiratory function. Infants born with no enzyme often die by the age of 1 although enzyme replacement therapy is working to change that. Individuals with some residual enzyme have variable symptoms of the disease but can range from muscle weakness, gait abnormalities, respiratory failure or insufficiency in some cases requiring ventilator support. Treatment is now available through IV infusion of enzyme replacement.
www.pompe.com
MPSI (Hurler Syndrome)
Hurler Syndrome is one of a group of mucopolysaccharidosis diseases that is caused by an accumulation of glycosaminoglycans (GAG's) in the lysosomes due to an enzyme deficiency. The symptoms are chronic, progressive, and multi-systemic and can include enlarged liver and spleen, abnormally shaped bones, coarse facial features and severe arthropathy. Hearing, vision, respiratory and cardiovascular functions are all affected. Treatment can include bone marrow transplant and/or IV infusion of enzyme replacement.
For additional resources:
www.mpssociety.org
www.MPSIdisease.com
www.lysosomallearning.com
www.rarediseases.org
www.jointhesearch.org
Hunter Syndrome & Maroteaux-Lamy
Contact and More Information:
If you would like more information on the outreach programs at Fullerton Genetics Center call us at 828-213-0022 or use our online contact form.
