Blue diaper syndrome, or Drummond's syndrome, is a very rare metabolic disorder that involves a defect in transport of the amino acid tryptophan from the intestine. Its inheritance is either X-linked or autosomal recessive.
The syndrome's name is derived from the fact that excess tryptophan breakdown causes formation of indigo blue and excretion into the urine, discoloring a diaper. Other symptoms include hypercalciuria with kidney stone formation, digestive symptoms, fever, and visual disturbances.
Treatment consists of a low tryptophan and low calcium diet.
Blue diaper syndrome
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Synopsis
Codes
ICD10CM:
E72.09 – Other disorders of amino-acid transport
SNOMEDCT:
59531002 – Tryptophan malabsorption syndrome
E72.09 – Other disorders of amino-acid transport
SNOMEDCT:
59531002 – Tryptophan malabsorption syndrome
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Last Updated:06/14/2022
Blue diaper syndrome