The Hyena

Gaucher Disease

Gaucher Disease is an autosomal recessively inherited lysosomal storage disorder caused by the deficiency of the lysosomal enzyme beta-glucocerebrosidase. This leads to intracellular storage of glycosylceramide in the cells of various organs, especially in the liver, spleen and bone marrow. Three phenotypes are distinguished: Gaucher disease type I, type II and type III. Gaucher disease type I, the most common phenotype, describes the chronic non-neurological form and is characterized by hepatosplenomegaly, bone symptoms (pain, bone infarction osteonecrosis), thrombocytopenia and anemia. Gaucher disease type II is the rarest form and is distinguished by manifestation in infancy with severe rapidly progressive neurological symptoms (bulbar and pyramidal signs, myoclonic epilepsy). In addition to the clinical signs of Gaucher disease type I, Gaucher disease type III combines progressive neurological symptoms (oculomotor apraxia, ataxia, epilepsy). Therapeutically, 4 approved drugs are available (enzyme replacement therapies with imiglucerase or velaglucerase alfa for Gaucher disease type I and type III, substrate reduction therapies with miglustat or eliglustat for Gaucher disease type I).

Gaucher Disease | SphinCS - Clinical Science for LSD

Etiology: Deficiency of beta-glucocerebrosidase (= beta-glucosidase)
Gene: GBA1 Gene
Mode of inheritance: Autosomal recessive

Leading symptoms:

Gaucher Disease Type I
(Age of onset: childhood, adolescence)

Gaucher Disease Type II
(Age of onset: infancy)

Gaucher Disease Type III
(Age of onset: childhood, adolescence)



M. Gaucher Typ I

M. Gaucher Typ II

M. Gaucher Typ III