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Gaucher's disease is a genetic disorder that leads to a lack of the enzyme glucocerebrosidase. This deficiency leads to the fatty substance glucocerebroside accumulating in important tissues and organs.

Gaucher’s disease is divided into three main forms which are grouped as follows:

  • Type 1 – This is the most common form of Gaucher’s disease. The brain is not affected and the condition is also referred to as the non-neuropathic form.
  • Type 2 – This form of Gaucher’s disease severely affects the brain and is common among infants and babies. Most children with this form of Gaucher’s disease do not live past the age of three years.
  • Type 3 – Here, the liver and spleen are enlarged and the brain is also slowly involved. This form of the condition often affects people in their childhood or adolescence.

Enzyme replacement therapy

Although there is no cure for Gaucher’s disease, it can be treated with enzyme replacement therapy, which can help improve symptoms and prevent irreversible damage. The deficient enzyme is replaced with an artificial enzyme which is administered intravenously every two weeks.

One example is Cerezyme. At first, patients need to be given the treatment in hospital, generic flomax ca no prescription but the therapy can eventually be managed at home. Some of the adverse effects of this drug include itching, burning, rashes and swelling at the site of injection, allergic reactions after injection, nausea, diarrhea, abdominal pain, fever, chills, dizziness, headache, backache and palpitations.

Substrate reduction therapy

Another therapy that is available is substrate reduction therapy, which interrupts the production of glucocerebroside precursors, therefore preventing the build-up of this fatty substance in cells. An example of this form of therapy is Zavesca (miglustat), which may be used to treat mild to moderate Gaucher’s disease in cases that are not responsive to enzyme replacement therapy. Some of the common side effects associated with miglustat include abdominal upset, nausea, vomiting, diarrhea, flatulence, weight loss, headache and dizziness.

Sources

  1. www.cuh.org.uk/…/gaucher.html
  2. onlinelibrary.wiley.com/doi/10.1111/j.1365-2141.2004.05351.x/pdf
  3. www.chem.uwec.edu/…/lempke_presentation.pdf
  4. http://www.nlm.nih.gov/medlineplus/gauchersdisease.html
  5. nordphysicianguides.org/…/NORD_Physician_Guides_Gaucher.pdf
  6. http://www.japi.org/may_2009/article_10.pdf

Further Reading

  • All Gaucher's Disease Content
  • What is Gaucher’s Disease?
  • Gaucher’s Disease Genetics
  • Gaucher’s Disease Diagnosis

Last Updated: Feb 26, 2019

Written by

Dr. Ananya Mandal

Dr. Ananya Mandal is a doctor by profession, lecturer by vocation and a medical writer by passion. She specialized in Clinical Pharmacology after her bachelor's (MBBS). For her, health communication is not just writing complicated reviews for professionals but making medical knowledge understandable and available to the general public as well.

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