Eliglustat is a relatively new drug used in the long-term treatment of patients with type I Gaucher disease. Gaucher disease is a rare, inherited metabolic disorder in which the enzyme glucocerebrosidase does not work correctly. This causes fatty substances to build up inside cells. Eliglustat inhibits the formation of these fatty substances by influencing the function of another enzyme (glucosylceramide synthase).

Eliglustat and the benefit of DNA analysis

The rate at which eliglustat is processed within your body varies from one individual to another. This means that the efficacy and side effects of eliglustat can be predicted to some extent on the basis of your genes. Preventive DNA analysis can therefore be an important tool in optimising your medication.

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