What is the blue diaper syndrome?
Blue diaper syndrome is another name for familial hypercalcemia with nephrocalcinosis and indicanuria, a rare, autosomal recessive disease caused by a metabolic defect in the reabsorption of tryptophan in the basolateral membrane of the proximal tubule.
Bacterial degradation of tryptophan in the intestine leads to an excessive production of indole, thereby leading to indicanuria, which, during oxidation to indigo blue, causes a peculiar bluish discoloration of the urine. Symptoms generally involve the alimentary tract and include vision problems and fevers.
