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What is Blue Diaper Syndrome?

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  • Written By: Mary McMahon
  • Edited By: Bronwyn Harris
  • Last Modified Date: 29 August 2016
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Blue Diaper Syndrome is an inherited condition which causes people to have difficulty metabolizing tryptophan, an essential amino acid which plays an important role in the human diet. As a result of the inability to process tryptophan, the urine turns a distinctive pale blue. This condition is known as Blue Diaper Syndrome because it usually manifests at a very early age, and the distinctive color of the bluish urine is hard to miss.

In addition to turning urine blue, Blue Diaper Syndrome can also cause more general digestive problems, along with fevers and visual problems. In some cases, children with this condition also develop kidney disease, as the body struggles to metabolize tryptophan. The colorful urine associated with Blue Diaper Syndrome is caused by bacterial interactions in the gut, which lead to the production of compounds which turn blue when they are exposed to oxidation.

This condition cannot be cured. The best treatment is to prescribe a low-tryptophan diet, with parents keeping a close eye on what their children eat. This amino acid is found in several meats, perhaps most notably turkey, along with sunflower seeds, eggs, milk, potatoes, sesame seeds, and some cheeses, among other things. Typically a doctor will discuss safe levels of tryptophan and foods which should be avoided when establishing a treatment plan.

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Blue Diaper Syndrome is a recessive genetic disorder, which means that someone must inherit two genes in order to develop symptoms. As a result, people can be carriers without even realizing it, until they meet up with other carriers and have children, at which point the condition will manifest if both parents pass down the faulty gene. Several mutated genes have been identified as the potential causal agents behind Blue Diaper Syndrome, which may allow researchers in the future to prevent the manifestation of Blue Diaper Syndrome in people who have both genes.

Like other metabolic disorders, Blue Diaper Syndrome can become a serious problem if it is not addressed. Disorders in the metabolism can cause a wide range of health problems, some of which may become debilitating for the patient. As a general rule, the most notable syndrome of this condition is so unique that parents usually seek medical attention promptly, fortunately heading off complications before they arise.

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Rotergirl
Post 2

My mom worked in a hospital lab in the 1950s and she said she remembered seeing one baby who had this, out of the thousands of labs she drew while she worked there.

She said at that time, it was kind of a trial and error process to see what helped the baby. A pediatrician at the hospital sort of figured out that a specialized diet helped, and I'm sure it was probably a low-tryptophan diet; they just didn't know it at the time. They just did the best they could.

Pippinwhite
Post 1

I've heard of porphyria, which can turn urine a dark blue, but I've never heard of blue diaper syndrome. Are there any stats, I wonder, on how common it is? I wonder how many pediatricians have actually seen it in one of their patients, and not just read about it in a medical book.

I also wonder if someone with this syndrome has an average life expectancy if they take care of themselves, or even if it lessens in severity as they get older. Some conditions do seem to become milder, or go away altogether as people age.

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