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

More general terms

• amino acid inborn error of metabolism

Additional terms

• indican