This is a real-world medical entrance exam question, please give the true answer based on the question and selection. Topic name: JIPMER 2018, Subject name: Biochemistry
Mutation in hanup disease: 
Select and explain. 
A. SLC5A18, B. SLC6A19, C. SLC7A9, D. SLC3A1
B: SLC6A19
Answer: B: SLC6A19 
Explanation: 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