Conditions / Genetic

Gaucher's disease

info · Genetic · ICD-10: E75.22

A sphingolipidosis characterized by deficiency of the enzyme glucocerebrosidase which results in the accumulation of harmful quantities of the glycolipid glucocerebroside throughout the body, especially within the bone marrow, spleen and liver.

Medications that may treat it

alglucerase cycloserine eliglustat imiglucerase miglustat taliglucerase alfa velaglucerase alfa

Also known as: Gaucher disease; acid beta-glucosidase deficiency; glocucerebrosidase deficiency; glucosylceramide beta-glucosidase deficiency; kerasin thesaurismosis