Gaucher disease (Gaucher syndrome) is a genetic lipid metabolism disorder. It is the most common lysosomal storage disease from the group of sphingolipidoses.
The cause is a deficiency of the enzyme glucocerebrosidase. As a result of the degeneration caused by the deficiency, increased glucocerebroside is accumulated in the cells of the reticuloendothelial system. With increasing storage, these swell to thick storage cells, they are called Gaucher cells. These cells accumulate especially in the liver, spleen and bone marrow.This leads to the characteristic clinical picture with extraordinarily variable clinical manifestations.
Three different phenotypes exist. Type 1 (non-neuronopathic form) accounts for 95% of cases. Characteristic features are hepatosplenomegaly, cytopenia (anemia, thrombocytopenia) and skeletal indevolopment.
In Type 2 (acute neuronopathic form) sufferers additionally damage the nervous system. Here is a severe and strongly progressive course that leads to death in the first years of life.
Type 3 (chronic neuronopathic form) is characterized by progressive encephalopathy (oculomotor apraxia, epilepsy, ataxia) along with the symptoms of type 1 and onset in childhood or adolescence. This form of disease progresses only slowly.
All forms are based on an autosomal recessive inheritance.