Blue Diaper Syndrome

Clinical Characteristics
Ocular Features: 

A single patient has been reported with microcornea, optic nerve hypoplasia, and 'abnormal' eye movements.  The full ocular phenotype is unknown but 'visual problems' are sometimes mentioned in other reports.

Systemic Features: 

Nephrocalcinosis and blue urine are the major systemic manifestations of blue diaper syndrome.  Symptoms of fever, constipation, poor weight gain, failure to thrive, and irritability can also be part of the syndrome.


This is considered an autosomal recessive disorder although an X-linked defect cannot be ruled out since reported patients have been male.  Parental consanguinity is present in some families.  Nothing is known about the mutation or its locus.  Intestinal transport of tryptophan is defective and bacterial degradation results in excessive indole production.  Oxidation in the urine to indigo blue results in the characteristic discoloration.        

Treatment Options: 

Restriction of dietary tryptophan has been suggested.

Article Title: 


Chen Y, Wu L, Xiong Q. The ocular abnormalities of blue diaper syndrome. Metab Pediatr Syst Ophthalmol. 1991;14(3-4):73-5.

PubMedID: 1818237

Drummond KN, Michael AT, Ulstrom RA, Good, RA. The blue diaper syndrome: Familial hypercalcemia with nephrocalcinosis and indicanuria; A new familial disease, with definition of the metabolic abnormality. Am J Med. 1964 Dec;37:928-48.

PubMedID: 14246093