Total Cholesterol, NON HDL Cholesterol, HDL Cholesterol, LDL Cholesterol, VLDL Cholesterol, Triglyceride,Total Cholesterol & HDL Cholesterol Ratio, Cholestrol & LDL Cholesterol Ratio, LDL Cholesterol & HDL Cholesterol Ratio
BETA GLUCOSIDASE, GAUCHER DISEASE SYNDROME
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What is this Test About?
Gaucher disease is an autosomal recessive lysosomal storage disease that leads to accumulation of glucocerebroside in tissues due to defective activity of enzyme Beta Glucosidase with mutations in GBA1 gene. All patients have non-uniform infiltration of bone marrow by Gaucher cells. Type 1 Gaucher disease is the commonest & is Non-Neuronopathic whereas Types 2 & 3 are Neuronopathic. Types 1 & 3 Gaucher disease can be easily treated by enzyme replacement therapy. Type 2 disease is rare, severe leading to death by 2 years of age. This tests the deficiency of enzyme Beta Glucosidase.
