ICD-10 Specific code E75.22: Gaucher disease type 1

Imiglucerase is a recombinant macrophage targeted acid β-glucosidase that replaces the deficient enzyme activity, hydrolysing glucosylceramide, thus correcting initial pathophysiology and preventing secondary pathology. Imiglucerase has been shown to improve both mental and physical aspects in the quality of life of Gaucher disease.

Miglustat is an inhibitor of glucosylceramide synthase, the enzyme responsible for the first step in the synthesis of most glycolipids, and a pharmacokinetic enzyme stabiliser of cipaglucosidase alfa. Miglustat is indicated for the treatment of adult patients with mild to moderate type 1 Gaucher disease and for the treatment of progressive neurological manifestations in patients with Niemann-Pick type C disease. Also, miglustat must be used in combination with cipaglucosidase alfa for long-term enzyme replacement therapy in adults with late-onset Pompe disease (acid α-glucosidase [GAA] deficiency).

Velaglucerase alfa supplements or replaces beta-glucocerebrosidase, the enzyme that catalyzes the hydrolysis of glucocerebroside to glucose and ceramide in the lysosome, reducing the amount of accumulated glucocerebroside and correcting the pathophysiology of Gaucher disease. Velaglucerase alfa increases haemoglobin concentration and platelet counts and reduces liver and spleen volumes in patients with type 1 Gaucher disease.