Gaucher Disease

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Philippe Gaucher

In the late 19th century, a 32-year-old woman with an enlarged spleen came to attention of a French physician, named Philippe Gaucher. Unfortunately, the patient died of septicaemia. In his thesis, dr. Gaucher described the peculiar pathology of a hitherto unknown disorder, involving accumulation of large cells with striated cytoplasm that affected the spleen as well as the liver and seemed to be a non-malignant proliferation [1]. In the years thereafter, the clinical picture of Gaucher disease was described in more detail, including the familial pattern of appearance. Also, sub-types affecting the central nervous system, with variable involvement of the liver and spleen were identified. It took several years before the biochemical basis of Gaucher disease was unravelled. The identification of an accumulated glycosphingolipid, glucocerebroside, in the spleen cells eventually led to the discovery of the enzyme responsible to cleave the glucose from ceramide by Patrick and Brady in 1965. Deficiency of the enzyme glucocerebrosidase (also known as acid β-glucosidase or E.C.3.2.1.45) is the basis for the occurrence of glucocerebroside storage in macrophages. Many mutations have so far been identified at the gene for human glucocerebrosidase (GBA), which has been mapped to chromosome 1q21.

Footnotes

[1] Gaucher P. De l’épithelioma primitif de la rate, hypertrophie idiopathique de la rate sans leukemie. [Thesis]. Paris, 1882.


Contact

Marieke Biegstraaten

Department of Internal Medicine, Division of Endocrinology and Metabolism, F5-169
Academic Medical Center, University of Amsterdam
PO box 22700
1100 DE Amsterdam, the Netherlands

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