Gaucher disease is an autosomal recessive disorder caused by a deficiency in glucocerebrosidase (GBA) enzyme activity, encoded by the GBA gene. Deficiency or absence enzyme activity leads to a buildup of glycosylceramide (GL-1) and glucosylsphingosine (lyso-GL-1).1 Current findings on disease mechanism point towards not only a lower enzymatic activity of β-glucocerebrosidase, but also to an increased production of GL-1 by glucosylceramide synthase.
- affects children and adults
- is equally likely to affect males and females
- occurs in all populations: incidence ~ 1 / 57,000
- occurs more commonly in the Ashkenazi Jewish population: incidence ~ 1/ 850
- is diagnosed by demonstrating decreased β-glucosidase activity in peripheral blood leukocytes
Gaucher disease, previously described as having discrete phenotypes, is now recognized to encompass a continuum of clinical findings from a perinatal-lethal form to one that is diagnosed in adulthood. Nonetheless, this wide spectrum of clinical findings and broad variability in patient presentation is still described by clinical subtypes, which are useful in determining prognosis and management. Three clinical types are delineated by the absence (type 1) or presence (types 2 and 3) of primary CNS involvement.
1. Baris HN, et al. Pediatr Endocrinol Rev. 2014;12:72-81
2. Grabowski GA, Petsko GA, Kolodny EH. Gaucher Disease. In: Valle D, Antonarakis S, Ballabio A, Beaudet A, Mitchell GA. eds. The Online Metabolic and Molecular Bases of Inherited Disease. New York, NY: McGraw-Hill; 2014. http://ommbid.mhmedical.com/content.aspx?bookid=2709§ionid=225546056. Accessed December 10, 2019.