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Gaucher's disease

Gaucher's disease

M165/0221

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Credit

CNRI / SCIENCE PHOTO LIBRARY CNRI / SCIENCE PHOTO LIBRARY

Caption

Gaucher's disease. Light micrograph of a section through a human liver with Gaucher's disease. It is a genetic disorder (autosomal recessive) that results in the deficiency of the enzyme glucocerebrosidase, which in turn results in the accumulation of the fat (lipid) glucocerebroside. There are three types of Gaucher's disease. The rarer types 2 and 3 may result in intellectual impairment, but more commonly death before the age of one. Type 1 has a high incidence within the Ashkenazi Jewish population, resulting in 80% of all recorded cases. It causes bone pain and may shorten life, but enzyme replacement therapy has been shown to prolong life. Magnification unknown.

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