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indicanuria (blue diaper syndrome)
Pathology:
- defect in tryptophan absorption
- bacterial degradation of intestinal tryptophan results in excessive indole production & thus indicanuria
Genetics:
- autosomal recessive
- mutations in the LAT2 & TAT1
Clinical manifestations:
- oxidation of indican to indigo blue, causes a bluish discoloration of the diaper
- digestive disturbances
- fever
- visual impairment
Laboratory:
- indicans in urine
Related
indican
General
amino acid inborn error of metabolism
References
- Wikipedia: Blue diaper syndrome
http://en.wikipedia.org/wiki/Blue_diaper_syndrome