blue diaper syndrome

(redirected from Familial hypercalcemia with nephrocalcinosis and indicanuria)
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blue diaper syndrome

[MIM*211000]
a disorder of tryptophan absorption; excess unabsorbed tryptophan in the intestine is metabolized to indoles and indicans, which are absorbed and lead to excretion of indican in the urine, which is oxidized in the diaper to indigo; patients also have hypercalcemia and nephrocalcinosis.

blue diaper syndrome

Etymology: OFr, blou; ME, diapre, patterned fabric
a defect of tryptophan absorption in which, because of intestinal bacterial action on the tryptophan, the urine contains abnormal indoles, giving it a blue color. It is similar to Hartnup's disease.

blue di·a·per syn·drome

(blū dīă-pĕr sindrōm)
Disorder of tryptophan absorption; excess unabsorbed tryptophan in the intestine is metabolized to indoles and indicans, which are absorbed and lead to excretion of indican in the urine, which is oxidized in the diaper to indigo.

blue diaper syndrome

A rare autosomal recessive syndrome in which the amino acid tryptophan is not absorbed from the gastrointestinal tract.
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