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What is Mutation in hanup disease: and explain in detail?
Hanup disease - autosomal recessive disease due to mutation in SLC6A19 which cause: Inability to absorb neutral amino acid from intestine and renal cell Tryptophan absorption is severely affected. C/f Pellagra like symptoms- As tryptophan is required for Niacin synthesis. amino aciduria Increased urinary output of indoleacetic acid and indolepyruvic acid is also observed