docarchana
Forum Guru
Topics: 70
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A 2-year-old boy has brittle depigmented hair, cerebral atrophy, delayed myelination, motor delay, and mental retardation. Lysyl oxidase activity is decreased. The function of which of the following substances is most likely to be defective in this patient?
A) Albumin
B) Ceruloplasmin
C) Chondroitin sulfate
D) Collagen
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| drpkaur
Forum Guru
Topics: 195
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is it D??
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| drbin
Forum Guru
Topics: 27
Posts: 535
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D it is a case of menkes disease deficiency of a cu efflux protein leads to trapping of all cu inside intestinal cells causing def of cu. cu is important for lysyl oxidase activity defect of which leads defective crosslinking of collagen fibres.
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| drbin
Forum Guru
Topics: 27
Posts: 535
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it is an XLR disease
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| docswapna
Forum Senior
Topics: 61
Posts: 229
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i remember, this q has been discussed before. after days of discussion, leopard and fox came to the conclusion that ans is ceruloplasmin. if i find the link i shall post it here..
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| blueocean
Forum Senior
Topics: 15
Posts: 195
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guys, I readed at least 10 articles about this and I REALLY DON'T KNOW THE ANSWER! In Menkes ceruloplasmin is decreased but because of the deficiency of cooper transport the collagen is not normal either!
http://books.mcgraw-hill.com/getommbid.php?isbn=0...
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| young_doc
Forum Guru
Topics: 55
Posts: 732
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Ceruloplasmin would have been correct if it was Wilson's.
A decrease in Ceruloplasmin seen in Menke's doesn't really answer the question. The question asks "the FUNCTION of which is defective", and not "the AMOUNT of which is decreased".
Low Copper will not affect the "function" of Ceruloplasmin....but should affect the "function" of collagen, as it will affect x-linking.
This is my take on the question. Let the debate begin!
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