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The blue diaper syndrome: Familial hypercalcemia with nephrocalcinosis and indicanuria

1964; Elsevier BV; Volume: 37; Issue: 6 Linguagem: Inglês

10.1016/0002-9343(64)90134-2

1555-7162

Keith N. Drummond, Alfred F. Michael, Robert A. Ulstrom, Robert A. Good,

Porphyrin Metabolism and Disorders

Abstract A new familial disease is described in which hypercalcemia and nephrocalcinosis are associated with a defect in the intestinal transport of tryptophan. Bacterial degradation of the tryptophan leads to excessive indole production and thus to indicanuria which, on oxidation to indigo blue, causes a peculiar bluish discoloration of the diaper. Possible pathogenetic interrelationships between the disturbances in calcium homeostasis and defective transport of the amino acid tryptophan are considered.