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Pediatrics Inborn Errors of Metabolism 2701245a

Mutation seen in Hartnup's disease:

A
SLC6A 18
B
SLC6A 19
C
SLC6A 17
D
SLC6A 16
High-Yield Explanation
b. SLC6A 19(Ref: Nelson 20/e p 3160)Hartnup's disease is due to mutation of SLC6A 19 gene encoding the neutral amino acid transporter, resulting in deficiency of nicotinamide synthesis

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