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Clinical and enzyme studies in Gaucher disease
1Department of Pediatrics, WHO Collaborating Center in Genetics, All India Institute of Medical Sciences, New Delhi.
Indian Pediatrics
|September 1, 1996
Summary
Diagnosing Gaucher disease in children with enlarged spleens is confirmed by measuring beta-glucosidase enzyme levels. Early diagnosis is crucial due to available enzyme replacement and prenatal testing options.
Area of Science:
- Biochemistry
- Genetics
- Pediatrics
Background:
- Gaucher disease is a rare genetic disorder.
- It results from a deficiency in the beta-glucosidase enzyme.
- This deficiency leads to the accumulation of glucocerebroside in cells.