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