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Hereditary diseases are transmitted from ancestors to their offspring. There are metabolic and storage diseases that are based on a deficiency or lower activity of an enzyme.

This can lead to various disorders and diseases. In some cases, substances have not been broken down are deposited in the body. Gaucher’s disease is the most common of the so-called lysosomal storage diseases. Those affected have a genetic defect in the enzyme glucocerebrosidase, which leads to the accumulation of undegraded fatty substances as storage substances in the macrophages, causing them to swell and become thick “Gaucher cells”.

Gaucher’s disease is divided into a non-neuronopathic course (formerly type 1) and a neuronopathic course, which can be acute (formerly type 2) or chronic (formerly type 3). Non-neuronopathic Gaucher’s disease has a chronic course characterised by hepatosplenomegaly (simultaneous enlargement of the liver and spleen), haematological changes, bone involvement and the absence of neurological symptoms. The acute neuronopathic form of Gaucher’s disease is characterised by severe neurological complications that usually lead to death within the first two years of life, while the chronic neuronopathic type is characterised by milder neurological symptoms and less progression.3 These diseases can be treated with enzyme replacement therapy or substrate reduction therapy.1,2 Gaucher disease affects less than 0.6 in 10,000 people in the EU (< 23,000).4 In Austria, fewer than 30 people are currently medically registered and receiving therapy.2


1 Pastores GM, Derralynn AH. Gaucher Disease. [Online] In: GeneReviews, edited by Pagon RA, Bird TD, Dolan CR. 2011. (accessed on: 04.02.2015).
2 ÖGG (ed.): (accessed on: 04.02.2015).
3 Beck M et al. Guidelines on Gaucher’s disease. Diagnosis and therapy of Gaucher’s disease. 2006, AWMF guideline register no. 027/011.
4 European Medicines Agency. EMA/COMP/239490/2008 Rev.1. 11.02.2013. (accessed on: 04.02.2015).

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