Chapter·BiochemistryGenetic Disorders and Biochemical Pathology

Lysosomal Storage DiseasesDownloads

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Sample Questions

1

In a patient presented with a fever and a positive filarial antigen test, what is the next appropriate method of management?

ABone marrow biopsy

BDEC provocation test

CDetection of microfilariae in the blood smear

DUltrasound of the scrotum

2

Tay-Sachs disease is due to a deficiency of which enzyme?

AHexosaminidase B

Bα-galactosidase

CHexosaminidase A

DSphingomyelinase

3

A child presents with bone pain and hepatosplenomegaly, indicative of Gaucher's disease. A trephine biopsy and aspirate show the following finding. Which of the following is the most likely enzyme deficient in this condition?

AHexosaminidase

BGlucocerebrosidase

CSphingomyelinase

DAlpha 1,4-glucosidase

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