A child presents with pellagra like dermatitis and aminoaciduria. Two siblings have the condition and it is absent in two sibling while it is absent in both parents. Which of the following condition is most likely?
Correct Answer: Hanup's disease
Description: Hanup disease (also known as "pellagra-like dermatosis" and "Hanup disorder") is an autosomal recessivemetabolic disorder affecting the absorption of nonpolar amino acids (paicularly tryptophan that can be, in turn, conveed into serotonin, melatonin, and niacin). Niacin is a precursor to nicotinamide, a necessary component of nad+ . Hanup disease is caused by alterations (mutations) in the SLC6A19 gene. Reference: GHAI Essential pediatrics, 8th edition
Category:
Pediatrics
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