Blue Diaper Syndrome
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NORD is very grateful to Uri S. Alon, MD, Professor of Pediatrics, Director, Bone and Mineral Disorders Clinic, Section of Pediatric Nephrology, The Children's Mercy Hospital and Clinics, University of Missouri at Kansas City School of Medicine, for assistance in the preparation of this report.
Synonyms of Blue Diaper Syndrome
- Drummond's Syndrome
- Hypercalcemia, Familial, with Nephrocalcinosis and Indicanuria
- No subdivisions found.
Blue diaper syndrome is a rare, genetic metabolic disorder characterized by the incomplete intestinal breakdown of tryptophan, a dietary nutrient. Symptoms typically include digestive disturbances, fever, irritability and visual difficulties. Some children with blue diaper syndrome may also develop kidney disease. Infants with this disorder may have bluish urine-stained diapers. Blue diaper syndrome is inherited as an autosomal or X-linked recessive trait.
Blue Diaper Syndrome Resources
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