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2 year old boy depigmented hair, cerebral atrophy, delayed myelination, motor delay and mental retardation. lysyl oxidase is low, what is defective?
1) albumin
2) ceruloplasmin
3) chondritoin sulfate
4) collagen
i thought it was menke's disease, and the answer would be 2 but i am wrong why??? is answer 4???
thanks
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hi usmle writer....ur diagnosis is right....i think it is menkes disease....where by the boy has defective cross linking in collagen secondary to functional lysyl oxidase deficency(which is secondary to failure in transport of copper from intestinal absorptive cells to blood )......hence this boy has normal ceruloplasmin (copper transport protein in blood which is produced by liver)....but defctive collagen.....
my answer is 4
Posts: 3,675,937
Threads: 734,344
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hi usmle writer....ur diagnosis is right....i think it is menkes disease....where by the boy has defective cross linking in collagen secondary to functional lysyl oxidase deficency(which is secondary to failure in transport of copper from intestinal absorptive cells to blood )......hence this boy has normal ceruloplasmin (copper transport protein in blood which is produced by liver)....but defctive collagen.....
my answer is 4