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Blue Diaper Syndrome

Last updated Aug. 6, 2018

Approved by: Maulik P. Purohit MD, MPH

Blue Diaper Syndrome is a rare, genetic, metabolic disorder characterized by the body’s inability to break down tryptophan (an amino acid) in the intestines. The condition manifests in newborn infants.

What are other Names for this Condition? (Also known as/Synonyms)

  • Drummond’s Syndrome
  • Familial Hypercalcemia-Nephrocalcinosis-Indicanuria Syndrome

What is Blue Diaper Syndrome? (Definition/Background Information)

  • Blue Diaper Syndrome is a rare, genetic, metabolic disorder characterized by the body’s inability to break down tryptophan (an amino acid) in the intestines. The condition manifests in newborn infants
  • Blue Diaper Syndrome is a genetic disorder and no specific factors to increase one’s risk for the disorder during one’s lifetime are identified. However, because this condition is associated with the sex gene, having parents with the mutated gene increases the risk of having a child with the disorder
  • The signs and symptoms of Blue Diaper Syndrome include diapers stained with blue urine in infants, digestive disturbances, fever, irritability, visual problems, constipation, vomiting, and failure to thrive. This can lead to complications such as kidney damage
  • A diagnosis of Blue Diaper Syndrome is made, if a demonstration of indican in a fresh sample of urine is established. A compound called indigo stains the diaper blue
  • The main treatment for Blue Diaper Syndrome is dietary restriction and antibiotics. The prognosis is good, as long as proper dietary control is maintained

Who gets Blue Diaper Syndrome? (Age and Sex Distribution)

  • Blue Diaper Syndrome is a rare congenital disorder that onsets in a child following its birth. Because children are born with this condition, it is typically diagnosed early in life
  • Both males and females are equally affected by the disorder
  • No specific preference is observed in the racial, ethnic, and geographical distribution of Blue Diaper Syndrome

What are the Risk Factors for Blue Diaper Syndrome? (Predisposing Factors)

  • The predisposing risk factors for Blue Diaper Syndrome include having both parents, who are carriers of the gene mutation associated with the syndrome
  • Although Blue Diaper Syndrome is transferred in an autosomal recessive pattern, the gene mutation is associated with the sex gene (which is X-linked). As a result, having the gene mutation run in the family is the largest predisposing factor to this condition

It is important to note that having a risk factor does not mean that one will get the condition. A risk factor increases one's chances of getting a condition compared to an individual without the risk factors. Some risk factors are more important than others.

Also, not having a risk factor does not mean that an individual will not get the condition. It is always important to discuss the effect of risk factors with your healthcare provider.

What are the Causes of Blue Diaper Syndrome? (Etiology)

  • Blue Diaper Syndrome is a metabolic genetic disorder that results from intestinal bacteria breaking down large amounts of tryptophan that do not get properly absorbed by the body
  • The blue-colored urine that is characteristic of this condition results from the accumulation of indican and related compounds in urine, due to the inefficient protein digestion
  • Indole, which is a breakdown product of tryptophan, is further broken down to the organic compound indican. Indican is a colorless compound that is excreted through urine. It turns blue on exposure to air, since it turns to indigo (a bluish dye)

Autosomal recessive: Autosomal recessive conditions are traits or disorders that occur when two copies of an abnormal gene have been inherited on a non-sex chromosome. If both parents have an autosomal recessive condition, there is a 100% likelihood of passing on the mutated genes to their children. If, however, only one mutant copy of the gene is inherited, the individual will be a carrier of the condition, but will not be present with any symptoms. Children born to two carriers, have a 25% chance of being homozygous dominant (unaffected), a 50% chance of being heterozygous (carrier), and a 25% chance of being homozygous recessive (affected).

What are the Signs and Symptoms of Blue Diaper Syndrome?

The signs and symptoms of Blue Diaper Syndrome may include the following:

  • Irritability
  • Poor appetite
  • Nausea, vomiting
  • Constipation
  • Frequent fevers
  • Digestive disturbances or frequent intestinal infections
  • Failure to thrive
  • Poor vision or other visual disturbances
  • Signs and symptoms of hypercalcemia that include feeling thirsty often, increased urination frequency, and changed bowel movements

How is Blue Diaper Syndrome Diagnosed?

The diagnosis of Blue Diaper Syndrome may involve the following:

  • Evaluation of a complete family (medical) history and thorough physical examination of the child
  • If any of the related symptoms are noted and if blue-colored urine is present, a healthcare provider may suspect Blue Diaper Syndrome
  • Testing for eye and kidney function
  • A specific test that is performed to help diagnose Blue Diaper Syndrome is the urine indican test, or the Obermeyer test. This test helps indicate the overgrowth of anaerobic bacteria in the gut, which results from excessive tryptophan degradation
  • Tests to determine increased calcium in the body

Many clinical conditions may have similar signs and symptoms. Your healthcare provider may perform additional tests to rule out other clinical conditions to arrive at a definitive diagnosis.

What are the possible Complications of Blue Diaper Syndrome?

The main possible complications of Blue Diaper Syndrome include kidney damage and kidney failure. Other complications may include the following:

  • Eye defects including underdeveloped optic discs, abnormal eye movements, and an abnormally small cornea
  • Kidney stones due to very high amounts of calcium in blood (hypercalcemia)

How is Blue Diaper Syndrome Treated?

An early recognition and treatment of Blue Diaper Syndrome is important before the onset of significant signs and symptoms, since it is a metabolic (genetic) disorder.

  • Treatment of Blue Diaper Syndrome includes dietary restrictions that limit the intake of calcium, protein, and vitamin D. This restriction may help prevent kidney damage and eye/vision defects
  • Foods that are high in tryptophan should be avoided. These include warm milk and turkey
  • Treatment also includes the administration of antibiotics, in an effort to control the amount of intestinal bacteria
  • Treating eye and kidney conditions

How can Blue Diaper Syndrome be Prevented?

  • Currently, there are no specific methods or guidelines to prevent Blue Diaper Syndrome, since it is a genetic condition
  • Genetic testing of the expecting parents (and related family members) and prenatal diagnosis (molecular testing of the fetus during pregnancy) may help in understanding the risks better during pregnancy
  • If there is a family history of the condition, then genetic counseling will help assess risks before planning for a child
  • Active research is currently being performed to explore the possibilities for treatment and prevention of inherited and acquired genetic disorders such as Blue Diaper Syndrome
  • Regular medical screening at periodic intervals with tests and physical examinations are recommended

What is the Prognosis of Blue Diaper Syndrome? (Outcomes/Resolutions)

  • The prognosis of Blue Diaper Syndrome depends upon the severity of the signs and symptoms. Children with mild signs and symptoms have a better outcome than those with a severe condition
  • Individuals who maintain suitable dietary control and remain on antibiotics have a good prognosis

Additional and Useful Relevant Information for Blue Diaper Syndrome:

  • The genetic carrier testing blood test is performed when parents-to-be wish to assess their risk of passing on a genetic disorder to their children

The following link can help you understand the genetic carrier testing blood test:


What are some Useful Resources for Additional Information?

References and Information Sources used for the Article:

Helpful Peer-Reviewed Medical Articles:

Reviewed and Approved by a member of the DoveMed Editorial Board
First uploaded: Sept. 8, 2016
Last updated: Aug. 6, 2018