Which of the following clinical laboratory observations is suggestive of Hanup disease?
High fecal levels of tryptophan and indole derivatives Hanup disease is autosomal recessive metabolic disorder also known as pellagra like dermatosis. This affect the absorption of nonpolar( neutral ) amino acids specially tryptophan. So there is no absorption of tryptophan.
Burnt sugar smell in urine
High plasma phenylalanine levels
Extremely high levels of citrulline in urine
High fecal levels of tryptophan and indole derivatives
All India exam