What is Gaucher disease?

What is Gaucher disease?

Summary Summary. Gaucher disease refers to a group of inherited metabolic diseases in which harmful amounts of fatty materials (lipids) accumulate in various cells and tissues in the body (lipid storage disorder).

What are the symptoms of Type 1 Gaucher disease?

Patients with Type 1 Gaucher disease can display a wide variation of clinical signs – even brothers and sisters with Gaucher disease can be affected very differently – and symptoms may occur at any age. Common symptoms include: General fatigue – lack of energy and stamina, tiredness even after a full night’s sleep

How is Gaucher disease (guecher syndrome) diagnosed?

Identification of two causal gene defects, in conjunction with enzyme test results, confirms the diagnosis of Gaucher disease. Individuals in whom only a single gene defect is identified may be a carrier or, in the presence of low beta-glucosidase, may be affected with a second gene defect (mutation) not detected.

What are the treatment options for Gaucher disease?

An enzyme that breaks down these fatty substances doesn’t work properly in people with Gaucher disease. Treatment often includes enzyme replacement therapy.

What is gaugegaucher disease?

Gaucher disease is an inherited disorder that affects many of the body’s organs and tissues. The signs and symptoms of this condition vary widely among affected individuals.

What is the best drug for Gaucher’s disease?

Eliglustat (Cerdelga). Approved by the Food and Drug Administration in 2014 for treating the most common form of Gaucher disease, this drug also seems to inhibit the production of fatty substances that build up in people with this this condition.Possible side effects include fatigue, headache, nausea and diarrhea. Osteoporosis drugs.

Is there a sphingolipid perspective on Gaucher’s disease and cancer?

“Gaucher’s disease and cancer: a sphingolipid perspective”. Critical Reviews in Oncogenesis. 18 (3): 221–34. doi: 10.1615/critrevoncog.2013005814.