Lysomale Speichererkankung

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

  • Gaucher Disease Type I: chronic non-neuronopathic form
  • Gaucher Disease Type II: acute neuronopathic form
  • Gaucher Disease Type III: chronic neuronopathic form

Leading symptoms:

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

  • Hepatosplenomegaly
  • Bone disease (pain, bone infarction, osteonecrosis)
  • Thrombocytopenia, anemia

Gaucher Disease Type II
(Age of onset: infancy)

  • Hepatosplenomegaly
  • Muscular hypotonia
  • Progressive severe CNS symptoms with bulbar and pyramidal signs, myoclonic epilepsy
  • Congenital ichthyosis

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

  • Hepatosplenomegaly
  • Bone disease (pain, bone infarction, osteonecrosis)
  • Thrombocytopenia, anemia
  • Horizontal supranuklear gaze palsy, initial only slow and hypometric horizontal saccades
  • Myoclonic epilepsy
  • Cognitive impairment


  • Measurement of the activity of beta-glucocerebrosidase in leucocytes or dried blood spot
  • Glycosylsphingosin ( LysoGL1 )
  • Molecular genetic analysis of GBA1 Gene


M. Gaucher Typ I

  • Imiglucerase (Cerezyme®)
  • Velaglucerase alfa (VPRIV®)
  • Miglustat
  • Eliglustat (Cerdelga®)

M. Gaucher Typ II

  • Only symptomatic

M. Gaucher Typ III

  • Imiglucerase (Cerezyme®)
  • Velaglucerase alfa (VPRIV®)

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