What is the Drummond's syndrome? Exploring the Rare Metabolic Disorder

September 21, 2025 •

3 min read

First described in 1964, Drummond's syndrome is an extremely rare genetic metabolic disorder affecting infants. It is also widely known as blue diaper syndrome and is caused by a defect in the body’s ability to absorb the amino acid tryptophan. This comprehensive guide provides authoritative insight into this rare condition.

Quick Summary

Drummond's syndrome is the medical name for blue diaper syndrome, a very rare inherited metabolic disorder where the body cannot properly absorb the amino acid tryptophan, leading to blue-colored urine in infants.

Key Points

Drummond's Syndrome is Blue Diaper Syndrome: The two terms refer to the same rare metabolic disorder that affects infants.
Tryptophan Absorption Defect: The core issue is a genetic defect that prevents the proper absorption of the amino acid tryptophan in the intestine.
Blue Diapers are a Key Symptom: The condition causes unabsorbed tryptophan to be broken down, resulting in blue-colored urine that stains diapers.
Hypercalcemia is a Major Risk: Abnormally high blood calcium levels are a significant complication and can lead to kidney damage if not managed.
Dietary Management is Crucial: Treatment primarily involves controlling the intake of tryptophan and calcium through a specialized diet to manage symptoms and prevent complications.
Prognosis is Often Favorable: With early diagnosis and consistent nutritional management, the long-term outlook for a child with Drummond's syndrome is generally good.

Understanding Drummond's Syndrome: The Basics

Drummond's syndrome is another name for blue diaper syndrome, a rare genetic metabolic disorder. It is characterized by a defect in the intestinal absorption of the essential amino acid tryptophan. This malabsorption leads to tryptophan being broken down by bacteria in the intestine, producing compounds that cause the urine to turn blue. In addition to the distinctive blue diaper, the syndrome is associated with high calcium levels in the blood (hypercalcemia) and calcium deposits in the kidneys (nephrocalcinosis).

The Cause: A Genetic Defect in Tryptophan Absorption

The condition is caused by genetic mutations that impair tryptophan absorption in the intestines. Tryptophan is vital for various bodily functions. Normally, it is absorbed from the intestines into the bloodstream. In Drummond's syndrome, this process is faulty due to an autosomal recessive or X-linked recessive inheritance pattern. Specific genes, potentially including LAT2 and TAT1, are believed to be involved. The unabsorbed tryptophan is metabolized by intestinal bacteria into compounds like indole, which is then converted to indican in the body. When indican is excreted in urine, it oxidizes to form indigo blue, causing the blue discoloration.

Signs and Symptoms of Blue Diaper Syndrome

The most recognizable sign is the blue-stained diaper, but other symptoms can be more serious and affect overall health and development. These are often linked to the metabolic issues and hypercalcemia.

Symptoms may include:

Irritability
Poor feeding and failure to thrive
Vomiting and digestive problems
Recurrent fevers
Visual problems, potentially involving the optic disc and cornea
Hypercalcemia
Nephrocalcinosis, which can impair kidney function

Symptom severity varies, particularly regarding hypercalcemia and kidney involvement, impacting the long-term outlook.

Diagnosis and Management

Early diagnosis is crucial for preventing severe complications. Diagnosis usually begins with the observation of blue-stained diapers, followed by a clinical evaluation and tests. Urine tests can detect indican, and blood tests measure calcium levels. Genetic testing may also be used to identify gene mutations.

Management primarily involves dietary changes:

Low Tryptophan Diet: Restricting tryptophan intake reduces the amount available for bacterial breakdown, decreasing indigo blue production.
Low Calcium Diet: Managing hypercalcemia through a low calcium diet is vital for protecting kidney health.
Antibiotics: Antibiotics may be used to control the intestinal bacteria involved in tryptophan breakdown.

With proper dietary management and monitoring, the prognosis is often favorable. Long-term care includes continued dietary control and regular kidney function checks. Early intervention improves quality of life.

A Comparison of Normal vs. Defective Tryptophan Metabolism


Feature	Normal Tryptophan Metabolism	Drummond's Syndrome (Defective Tryptophan Metabolism)
Intestinal Absorption	Efficiently absorbed from the intestine.	Defective absorption due to genetic mutation.
Bacterial Breakdown	Minimal breakdown of tryptophan.	Significant breakdown of unabsorbed tryptophan by intestinal bacteria.
Indole Production	Low levels of indole and derivatives.	Excessive production of indole and its derivatives.
Urine Color	Normal urine color (yellow).	Bluish discoloration due to indigo blue formation (indicanuria).
Blood Calcium Levels	Maintained within a normal, healthy range.	Abnormally high blood calcium (hypercalcemia).
Kidney Health	Healthy kidney function.	Risk of calcium accumulation (nephrocalcinosis) and kidney damage.
Overall Health	Healthy growth and development.	Failure to thrive, digestive issues, and potential visual problems.

Conclusion: Navigating a Rare Condition with Knowledge

A diagnosis of Drummond's syndrome, while potentially alarming due to the blue diapers, is a manageable condition with appropriate medical care. This rare genetic disorder requires diligent monitoring and dietary intervention to address the metabolic defect and prevent complications like hypercalcemia and kidney damage. Ongoing research into the genetic basis of the syndrome offers potential for future targeted therapies. Utilizing authoritative resources, such as the National Organization for Rare Disorders (NORD), can empower families to understand Drummond's syndrome and ensure the best possible health outcomes for their child.

Frequently Asked Questions

No, Drummond's syndrome is a genetic disorder, not an infectious disease. It cannot be spread from person to person through contact or any other means.

The syndrome is caused by a genetic mutation, most often inherited in an autosomal recessive or X-linked recessive pattern. The mutation leads to a defect in the intestinal transport of tryptophan.

Diagnosis is typically based on observing the characteristic blue-stained diapers, followed by urine and blood tests. A urine test can confirm the presence of indican, while a blood test can check for high calcium levels.

The main treatment involves a specialized diet that is low in tryptophan and low in calcium to manage the metabolic defect and prevent complications like hypercalcemia and kidney issues.

As a genetic disorder, there is currently no cure. However, the symptoms can be effectively managed with dietary restrictions, often leading to a favorable long-term prognosis, especially with early detection and consistent care.

Beyond the blue diapers, infants may experience digestive problems (like vomiting or constipation), fever, irritability, failure to thrive, and visual abnormalities.

Yes, although some reports have suggested X-linked inheritance, the condition can affect both males and females equally, depending on the specific genetic inheritance pattern.