Mutation in hanup disease:
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
SLC5A18
SLC6A19
SLC7A9
SLC3A1
JIPMER 2018