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Pathology

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Genetics

Question
2 out of 18
 

The spleen is involved in the following storage disorders except: (AIIMS Nov 2014)



A Gaucher's disease
B von-Gierke's disease

C Niemann-Pick disease
D Hurler's syndrome

Ans. B von-Gierke's disease

Glycogenosis:

a. Hepatic type

von-Gierke's disease-enzyme deficiency is of glucose-6-phophatase presenting with hepatomegaly, enlarged kidney; bleeding tendency; hypoglycemia, convulsions, hyperlipidemia and hyperuricemia.

b. Myopathic disease (McArdle syndrome)

Enz. deficiency muscle phosphorylase

Genetics Flashcard List

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