Blue Diaper Syndrome

Blue Diaper syndrome is a hereditary metabolic disorder characterised by hypercalcaemia with nephrocalcinosis and indicanuria.

Epidemiology

The prevalence is unknown.

Clinical description

Affected infants present with digestive problems, fever and periodic irritability. Visual disturbances have also been reported. The disease is associated with a defect in intestinal tryptophan absorption that leads to a bluish discoloration of the urine when it comes into contact with the air.

Etiology

The defect in tryptophan absorption may be associated with mutations in the LAT2 and TAT1 genes, encoding two amino acid transporters.

Genetic counseling

Transmission may be autosomal recessive or X-linked.