Substrate reduction therapy is one possible treatment for Gaucher disease. It is sometimes used in combination with enzyme replacement therapy.

What is Gaucher disease?

Gaucher disease is a rare heritable disease that affects several body systems and causes symptoms that vary widely among patients.

The disease is caused by mutations in the GBA gene, which contains the instructions to make an enzyme called beta-glucocerebrosidase. This enzyme is involved in breaking down a component of cell membranes called glucocerebroside.

Mutations in the gene cause the enzyme to be made incorrectly, which means that when cells try to break down pieces of cell membranes, there is a buildup of toxic waste products. Over time, these waste products poison the cell, causing the symptoms of the disease.

GBA is active in many different cell types, so depending on which cells are affected, the symptoms may be very different among patients.

What is substrate reduction therapy?

Substrate reduction therapy uses small molecules that inhibit the synthesis of the cell membrane component that is broken down by beta-glucocerebrosidase. By reducing the substrate of the enzyme, the levels of the waste products can be reduced.

Substrate reduction therapy can be used in combination with enzyme replacement therapy — a treatment that supplies artificially produced, active enzyme to a patient’s body.

There are two substrate reduction therapies approved by the U.S. Food and Drug Administration (FDA) for the treatment of Gaucher disease:

Cerdelga (eliglustat) is the first-line treatment for adults with type 1 Gaucher disease, and is considered suitable for long-term treatment.

Zavesca (miglustat) is only used in patients with mild to moderate type 1 Gaucher disease who cannot be treated with enzyme replacement therapy.

Other information

Substrate reduction therapy can cause side effects such as fatigue, headache, nausea, diarrhea, back pain, pain in extremities, and upper abdominal pain.

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Gaucher Disease News is strictly a news and information website about the disease. It does not provide medical advice, diagnosis or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website.
Emily holds a Ph.D. in Biochemistry from the University of Iowa and is currently a postdoctoral scholar at the University of Wisconsin-Madison. She graduated with a Masters in Chemistry from the Georgia Institute of Technology and holds a Bachelors in Biology and Chemistry from the University of Central Arkansas. Emily is passionate about science communication, and, in her free time, writes and illustrates children’s stories.
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Emily holds a Ph.D. in Biochemistry from the University of Iowa and is currently a postdoctoral scholar at the University of Wisconsin-Madison. She graduated with a Masters in Chemistry from the Georgia Institute of Technology and holds a Bachelors in Biology and Chemistry from the University of Central Arkansas. Emily is passionate about science communication, and, in her free time, writes and illustrates children’s stories.
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