Disease Education

Learn more about the conditions that Genzyme's products treat, and explore online resources that can help patients make more empowered decisions about their treatment and their health.
Genzyme's products address serious unmet medical needs, with special expertise in rare genetic disorders. Here's an introduction to our main areas of focus.


Lysosomal Storage Disorders

Lysosomal storage disorders (LSDs) are a group of more than 40 diseases. Each is caused by a genetic problem that results in the deficiency or malfunction of particular enzymes needed to remove waste material from cells. These waste molecules then accumulate, or are stored, in cell lysosomes (smaller compartments within the cells), disrupting cell function and causing a variety of symptoms. All LSDs are progressive, meaning that without treatment, they worsen over time. Enzyme replacement therapy is currently available to address the underlying cause of some LSDs.

 With LSDs, cells swell as waste builds up in the lysosomes

Each LSD is caused by a different genetic problem and enzyme deficiency. Because these disorders are extremely rare – even the most common, Gaucher disease, only affects an estimated 10,000 people worldwide – it can be difficult to find information about them. Genzyme has several LSD treatments and is one of the world's leading authorities on LSDs. We produce a variety of materials, both in print and online, to educate the public about these rare but serious diseases.

Following are some more details about the LSDs that Genzyme currently treats.

Disease Description Learn More At...
Gaucher Disease The most common LSD, it often causes an enlarged liver and spleen as well as bone pain and other skeletal problems. Genzyme's Gaucher Care website
Fabry Disease Affecting more males than females, it causes a wide range of symptoms, the most serious being heart and kidney disease. Genzyme's Fabry Community website

aridosis I (MPS I)

Varying widely in its severity, it causes joint stiffness and heart disease in most patients and extreme developmental and physical problems in the most serious cases. Genzyme's MPS I website

Pompe Disease

Often classified as a neuromuscular disorder, it causes muscle weakness, especially in the legs, hips, and breathing muscles. Genzyme's Pompe Community website

Hunter Syndrome

Primarily affecting males, it has many of the same symptoms and variability as MPS I. The National MPS Society's website

Genzyme's MPS II web page for Asia-Pacific

Marked by abnormal, uncontrolled, and invasive cell growth, cancer can occur in almost any part of the body. Most cancers take the form of a tumor – a concentrated mass of cancer cells – but some, such as cancers of the blood, involve a diffuse spread of cancer cells.

Thyroid Cancer

Thyroid cancer is a tumor in the thyroid gland, which controls the body's metabolism. It can usually be successfully treated with surgery and/or radiation, but requires life-long monitoring because of the high incidence of recurrence; Genzyme has a product that assists with this monitoring. Hormone therapy is also necessary to replace the hormones that the removed thyroid gland no longer produces, as well as to aid in ongoing tests.

Learn more about Thyroid Cancer at the American Thyroid Association’s website

Last Updated: 3/17/2016
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