Mutation in hanup disease:: (A) SLC5A18, (B) SLC6A19, (C) SLC7A9, (D) SLC3A1
Answer is B. 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