questions

[shisha]

Q 1.]
Patient with severe fasting hypoglycemia, lactic acidosis, hyperlipidemia, increased ketone bodies and hepatomegaly.....has deficiency of

a]branching enzyme
b]debranching enzyme
c]glucose 6 phosphatase
d]alpha 1-4 glucosidase


Q 2.]
A patient has a lysosomal storage disease that leads to accumulation of glycogen like material in the inclusions......presents with cardiac problems....has deficiency of

a]1-4:1-4 glucosyl transferase
b]1-4 glucosidase
c]1-6 transferase
d]1-4:1-6 glucosyl transferase.

[shisha]

ANS 1:
these clinical features indicate Von Gierke's disese as it there is severe fasting hyperglycemia,ketone bodies and hyperlipidemia.......all these indicate deficiency of glucose 6 phosphatase....one of the the key enzyme which is essential for "both gluconeogenesis and gycogenolysis".......so what happens is..... during a state of crisis[eg:fasting].......glucose can't be made by either of the above processes....so the brain and other organs have to derive enery from other sources[eg:ketone bodies].

Also as the glucose 6 phoshate is trapped within the liver cell ....it leads to osmotic swelling.....leading to hepatomegaly.


Ans 2:

Pompe's disease.....deficiency of 1-4 glucosidase.