Gaucher disease

Gaucher disease is one of the most common lysosomal storage pathologies characterized by the accumulation of glucocerebroside deposits in the liver, spleen and bone marrow.

Gaucher disease (GD) is an autosomal recessive disease that affects an enzyme of the cellular lysosome called glucocerebroidase and encoded by the GBA gene. When this enzyme does not function properly, it causes the accumulation of glucosylceramidase, a type of glycolipid that in excess can damage certain cells of the liver, spleen and bone marrow.

The prevalence of GD is 1 in 60,000 people. The incidence in the Ashkenazi Jewish population is the highest and is estimated at 1 case in 350-450 individuals.


The clinical manifestations are highly variable and the disease is divided into three types:

  • GD type 1: this is the most common form in Western populations, accounting for 95% of cases. It produces fatigue, liver and spleen enlargement, bone pain and cytopenias (mainly thrombocytopenia and anemia). It does not affect the nervous system.
  • GD type 2 is a rare type of GD that severely affects the spinal cord in the first two years of life and has a poor prognosis.
  • GD type 3 is the less severe neurological form that is rare in the United States and Europe, but is the most common worldwide. It is characterized by progressive encephalopathy (oculomotor apraxia, epilepsy and ataxia). It usually appears in childhood or adolescence. Patients can live into adulthood, some up to 50 years of age, with the help of treatment.

Disease management

Type 1 GD can be treated. Treatment is also available for patients with type 3 GD who do not have neurological symptoms, and in cases of type 3 GD with nervous system damage, symptoms can be minimized.

Available treatments include enzyme replacement therapy (ERT) and substrate reduction therapy (SRT). ERT (intravenous application) with the recombinant enzyme imiglucerase is used in the treatment of patients with types 1 and 3 disease. SRT (oral therapy) with miglustat offers an alternative second-line treatment. It is important that patients with Gaucher disease receive treatment before the onset of sequelae that do not respond to these therapies.

Genes analyzed



Shepherds GM, Hughes DA. Gaucher Disease. 2000 Jul 27 [updated 2018 Jun 21]. In: Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2022.

Weinreb NJ, Goker-Alpan O, Kishnani PS, et al . The diagnosis and management of Gaucher disease in pediatric patients: where do we go from here? Mol Genet Metab. 2022 May;136(1):4-21.

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