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Gaucher disease is a rare, inherited metabolic disorder in which harmful quantities of a fatty substance called glucocerebroside accumulate in the spleen, liver, lungs and bone marrow. It may also, in some cases, accumulate in the brain. All Gaucher patients, regardless of type, have a deficiency of an enzyme called glucocerebrosidase that is involved in the breakdown of glucocerebroside. This build-up of fatty material within the cells prevents the cells and organs from functioning properly. There are three types of Gaucher disease: Type 1, 2 and 3. The first type, type 1, is by far the most common. Patients with this type usually bruise easily and experience fatigue due to anemia and low blood platelets. While there are no signs of brain involvement in this group, other clinical signs in these patients include an enlarged liver and spleen, skeletal disorders, and, in some instances, lung and kidney impairment. Enzyme replacement therapy, which reduces liver and spleen size, improves blood counts and reduces skeletal anomalies in type 1 patients, has proven very beneficial. Currently the only enzyme replacement treatment for Type 1 Gaucher disease is CEREZYME® (imiglucerase for injection, www.genzyme.com). Depending on your condition, this medication may be infused intravenously several times a week up to every 2 weeks with the dose based on body weight.
Fabry disease is caused by the lack of or faulty enzyme needed to metabolize lipids, fat-like substances that include oil, waxes and fatty acids. The enzyme is called ceramide trihexosidase, also called alpha-galactosidase-A. A mutation in the gene that controls this enzyme causes insufficient breakdown of lipids, which build up to harmful levels in the eyes, kidneys, autonomic nervous system and cardiovascular system. Symptoms usually begin during childhood or adolescence and include burning sensations in the hands that get worse with exercise and hot weather. Other symptoms include decreased sweating, fever and gastrointestinal difficulties, particularly after eating. Patients with Fabry disease often survive into adulthood, but are at increased risk of having a stroke, heart attack, heart disease and kidney failure. Enzyme replacement therapy with FABRAZYME® (agalsidase beta, www.genzyme.com) is effective in slowing the progression of the disease. This medication is given intravenously via infusion over 2 hours and may be repeated every 2 weeks.
Hurler syndrome is an inherited disease that belongs to a group of diseases called mucopolysaccharidosis, or MPS. It is a progressive disorder that usually claims the lives of a majority of patients before they reach adulthood and results from the body’s inability to make lysosomal alpha-L-iduronidase, an enzyme that helps breakdown mucopolysaccharides. Mucopolysaccharides are made of a Jell-O-like material and are found throughout the body, often in mucus secretions and in fluids surrounding the joints. The enzyme deficiency found in MPS-1 causes mucopolysaccharides to build up in the body. The result is a multisystem disorder with symptoms that range from mild to severe. The disease damages many organs, including the heart. MPS-1 affects approximately 3,000 to 4,000 people worldwide. Enzyme replacement therapy is now possible for patients. ALDURAZYME® (laronidase, www.genzyme.com) is the first and only US and European treatment for MPS-1. Laronidase is administered as a weekly intravenous infusion.
MYOZYME® (alglucosidase alfa, www.genzyme.com) is the first treatment ever approved for Pompe disease and the first for an inherited muscle disorder. This medication, given as an intravenous infusion every 2 weeks, has shown, during clinical trials, to decrease heart size, maintain normal heart function, improve muscle function, tone and strength and reduce glycogen accumulation. Without this enzyme replacement, the hearts of babies with infantile onset of disease progressively thicken and enlarge. Pompe disease is a rare (1 in 40,000 births), inherited and often fatal disorder that disables the heart and muscles. It is caused by mutations in a gene that makes an enzyme called alpha-glucosidase (GAA). Normally the body uses GAA to break down glycogen, a stored form of sugar used for energy, but in Pompe disease, mutations in the GAA gene reduce or completely eliminate this essential enzyme. Excessive amounts of glycogen accumulate everywhere in the body, but the cells of the heart and skeletal muscles are the most seriously affected. The severity and the age of onset are related to the degree of enzyme deficiency. A complete or near deficiency of GAA is classified as early onset while late onset is a result of a partial GAA deficiency.
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