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Синдром блакитних пелюшок

ORPHA:94086· ICD-10 E70.8· Blue diaper syndrome

Визначення(English summary)

A rare inborn error of metabolism characterized by early-onset diarrhea, fever, recurrent hypoglycemia, hypercalcemia with nephrocalcinosis, metabolic acidosis, and indicanuria due to bacterial degradation of malabsorbed tryptophan with excessive indole production which, upon oxidation to indigo blue, causes bluish discoloration of urine spots in the diaper of the affected infant.

Поширеність
Unknown
Вік початку
Infancy, Neonatal