Hartnup disease

Pronunciation: hart'nup

Definition: an autosomal recessively inherited metabolic disorder characterized by aminoaciduria which is due to defective renal tubular transport of neutral a-amino acids; there is increased urinary excretion of tryptophan derivatives caused by defective intestinal absorption and bacterial degradation of unabsorbed tryptophan in the gut; manifestations include pellagralike, light-sensitive skin rash with temporary cerebellar ataxia.

Synonym(s): Hartnup syndrome

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© Copyright 2018 Wolters Kluwer. All Rights Reserved. Review date: Sep 19, 2016.

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