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Blue diaper syndrome
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Blue diaper syndrome

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Contributors: Benjamin L. Mazer MD, MBA, Marilyn Augustine MD
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Synopsis

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.

For more information, see OMIM.

Codes

ICD10CM:
E72.09 – Other disorders of amino-acid transport

SNOMEDCT:
59531002 – Tryptophan malabsorption syndrome

Differential Diagnosis & Pitfalls

Intestinal infections with the bacteria Pseudomonas aeruginosa can cause blue stools.

Best Tests

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References

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Last Updated: 03/29/2017
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Blue diaper syndrome
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Blue diaper syndrome : Diarrhea, Fever, Irritability, Ca elevated
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