Blue diaper syndrome

Other Names: Hypercalcemia, familial, with nephrocalcinosis and indicanuria Blue diaper syndrome is a rare metabolic disorder characterized by problems in the absorption of the aminoacid tryptophan and blue urine stains on diapers.

Cause

The defect in tryptophan absorption may be associated with mutations in the LAT2 and TAT1 genes.

Inheritance

Inheritance is autosomal recessive or X-linked recessive.

Signs and symptoms

Symptoms typically include digestive problems, fever, irritability, failure to thrive, and visual problems. The abnormally high levels of calcium in the blood (hypercalcemia) may result in accumulation of calcium in the kidneys (nephrocalcinosis) leading to impaired kidney function and possible kidney failure.

The bluish urine-stained diapers occur when intestinal bacteria break down excessive amounts of tryptophan, a nutrient of the diet, leading to increase of indican and related compounds in the urine (indicanuria). Although the exact nature of the biochemical defect remains uncertain, it is believed to be related to a defect in the intestinal absorption and transport of tryptophan.

Diagnosis

A diagnosis is usually made through clinical evaluation, observing detailed patient history then identifying the possible characteristic symptoms and testing fresh urine samples to enhance such evidence.

Treatment

Children with blue diaper syndrome may be put on a diet that restricts their intake of calcium, protein, vitamin D, and tryptophan. Antibiotics may also be used to control intestinal infections. Genetic counseling can also be beneficial, as well as taking part in clinical trials.

NIH genetic and rare disease info

• NIH info on Blue diaper syndrome

Blue diaper syndrome is a rare disease.

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