Blue Diaper Syndrome


Type of disease: Rare conditions

Blue diaper syndrome is a rare metabolic disorder characterized by inability of the body to absorb a nutrient called tryptophan. Symptoms may include: digestive problems, irritability, fever, visual difficulties, and occasionally kidney disease. This condition affects infants, who may have blue urine-stained diapers. Blue diaper syndrome is autosomal recessive, meaning an individual must have two copies of the changed gene that causes the condition. A person with one changed gene would be a carrier of the condition but will not have any symptoms. If both parents are carriers, their children have a one in four chance of having the disease. Treatment may include a specail diet. Although there is currently no cure for blue diaper syndrome, there are various resources to help manage the condition and treat the symptoms. Doctors seek help from various therapists and community services to provide support and care.

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