new_n_lost
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A 25-year-old woman presents to her physician with complaints of easy bruising and excessive bleeding. Physical examination demonstrates hepatosplenomegaly. A blood smear reveals pancytopenia and a bone marrow biopsy demonstrates markedly enlarged cells containing a fine fibrillar material resembling tissue paper. Leukocyte enzymatic studies demonstrate a deficiency of beta-D-glucosidase activity.
Which of the following substances is most likely to accumulate in the bone marrow cells?
A. Galactose
B. Glucosylceramide
C. Glycogen
D. Homocysteine
E. Mineralocorticoids
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FORUM RULES-- Those who believe in telekinesis, raise my hand. I get enough exercise just by pushing my luck --P4U World.." The pure and simple truth is rarely pure and never simple."
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| oldkidontheblock
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C
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Malcolm Forbes: Victory is sweetest when you've known defeat
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| MRMAVERICK
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its gaucher
i there problrm wid glycogen in gaucher?
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| MRMAVERICK
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tell u one thing
its v exam like Q
wats is source new-n-lost
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| tanmaynator
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c glucosylceramide
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| rock
Forum Elite
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C-glycogen
its gauchers-autosomal recessive
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| doc179
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guys , I am confused. Why are you all saying its glycogen? Isn't it glucocerebroside that accumulates in Gaucher's? and since thats not an option in the qn above, wouldn't we go for the ceramide option? as a cerebroside is made from a ceramide. So shouldn't the answer here be B and not C ?
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| new_n_lost
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Spot On Doc 179 n a very excellent line of reasoning. 
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FORUM RULES-- Those who believe in telekinesis, raise my hand. I get enough exercise just by pushing my luck --P4U World.." The pure and simple truth is rarely pure and never simple."
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| new_n_lost
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The correct answer is B.
The disease is Gaucher disease, which is a glycolipid storage disease in which glucosylceramide accumulates in spleen, liver, and bone marrow. The defective enzyme, a lysosomal hydrolase known as acid beta-D-glucosidase, can be assayed in leukocytes separated from the blood by centrifugation.
Interestingly, the defective enzyme can now be supplied intravenously, and strategies for transplantation of the cloned replacement gene are now being developed.
Galactose (choice A) is a sugar. Deficiency of beta-D-glucosidase would not lead to accumulation of galactose.
Glycogen (choice C) is a storage polymer of glucose. It accumulates in various glycogen storage diseases, but has a different appearance than the glycolipid in Gaucher disease.
Homocysteine (choice D) is an amino acid. It does not accumulate in Gaucher disease.
Mineralocorticoids (choice E) are lipids, but do not accumulate in bone marrow.
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FORUM RULES-- Those who believe in telekinesis, raise my hand. I get enough exercise just by pushing my luck --P4U World.." The pure and simple truth is rarely pure and never simple."
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| rock
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v. v. good doc1979...i am scratching my head on why i did not think of it too ...got the diagnosis but faltered on the detail...good q and learnt another thing from yu amazing docs.
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| lq2006
Forum Elite
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B
IT'S Gaucher disease
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