Gauchers disease

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Gauchers disease

Gauchers disease. Light micrograph of a section through a human liver with Gauchers 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 Gauchers 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

Science Photo Library features Science and Medical images including photos and illustrations

Media ID 6414424

© CNRI/SCIENCE PHOTO LIBRARY

Hepatic Histological Histology Histopathology Illness Liver Slide Stain Stained Tissue Tissues Cells Condition Disorder Gaucher Health Care Light Micrograph Section Sectioned

EDITORS COMMENTS
This print showcases the intricate details of Gaucher's disease, a genetic disorder that affects the liver. Through a light micrograph, we are able to witness the consequences of this autosomal recessive condition on a cellular level. Gaucher's disease is characterized by the deficiency of an essential enzyme called glucocerebrosidase. This deficiency leads to the accumulation of a specific fat molecule called glucocerebroside within cells. As depicted in this image, these lipids build up within the liver tissue, resulting in visible abnormalities and disruptions at a microscopic scale. While there are three types of Gaucher's disease, it is type 1 that predominantly affects individuals from Ashkenazi Jewish descent. In fact, approximately 80% of all recorded cases occur within this population. Type 1 can cause bone pain and potentially shorten life expectancy; however, advancements in medical science have introduced enzyme replacement therapy as an effective means to prolong life for those affected. It is important to note that types 2 and 3 variants of Gaucher's disease are rarer but more severe forms that may lead to intellectual impairment or even premature death before reaching one year old. Through this remarkable photograph captured by Science Photo Library, we gain insight into the histopathological aspects of Gaucher's disease while emphasizing its impact on human health and highlighting potential therapeutic interventions such as enzyme replacement therapy.

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