Menkes - MenkesDisease MelissaApostolidis AKA KINKY HAIR...

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Menkes Disease Melissa Apostolidis
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AKA KINKY HAIR DISEASE Brittle, kinky (monamide oxidase) Hair on infants is short, sparse, coarse, and twisted Hair is lightly pigmented: gray, white, silver Twisted strands resemble steel wool cleaning pads Eyebrows have a similar appearance
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Prognosis is poor: most affected will die within the first decade of life Symptoms usually appear at birth or in early childhood Age of onset: first months of life
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Quick facts In the US, Menkes is a rare  condition with incidence estimates  ranging from 1 case per 100,000 live  births to 1 case in 250,000.  Annual births in the United States  (approximately 3.9 million), an  estimated 16-40 infants with Menkes  are expected to be born each year.  
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What causes Menkes? What causes Menkes? A mutation in a gene coding for a copper transport protein Menkes Cu ATPase. Since copper cannot be transported across the membrane of the intestine, the copper builds up inside the intestinal cells. The copper is not distributed into the blood stream and the rest of the body.
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The protein normally functions by moving copper The protein normally functions by moving copper from the intestinal mucosa cells into the from the intestinal mucosa cells into the bloodsteam. It is bound by proteins like albumin bloodsteam. It is bound by proteins like albumin and transported to organs and tissues. and transported to organs and tissues.
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This note was uploaded on 12/24/2011 for the course STEP 1 taught by Professor Dr.aslam during the Fall '11 term at Montgomery College.

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Menkes - MenkesDisease MelissaApostolidis AKA KINKY HAIR...

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