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Old 09-15-2009
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Urine Sample Hartnup Disease and amino acids in urine

If the problem in hartnup disease is defective absorption of amino acids then how come we have access of them in the urine?
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Old 09-15-2009
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Not only u have defective transport across the intestinal epithelium but also you have defective reabsorption of large neutral amino acids and so they escape in the urine.

In fact this is one of the ways to differentiate Hartnup from Pellagra as both of them present with the 3 Ds of diarrhea, dementia, and dermatitis. In Hartnup u have aminoaciduria while in Niacin deficiency u don't.

The reason why u get Pellagra-like symptoms in Hartnup because Tryptophan is a large neutral acid so it would get deficient and it's one of the biosynthetic sources of Niacin.
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