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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.

Eliglustat and the enzyme CYP2D6

Eliglustat is processed to a large extent by the enzyme CYP2D6. The activity of this enzyme can vary considerably depending on your genetic predisposition, which means the efficacy of eliglustat can also differ from person to person.

Information about your genetic predisposition may therefore provide grounds for extra vigilance in relation to a treatment with eliglustat.

Read more about CYP2D6 enzyme »

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