Living with Tryptophan malabsorption syndrome
A rare metabolic condition (blue diaper syndrome) in which the body poorly absorbs tryptophan and urine can stain diapers blue.
Understanding Tryptophan malabsorption syndrome
Blue urine stains diapers when gut bacteria break down too much tryptophan. Symptoms often include digestive problems, fever, irritability, trouble gaining weight, and vision problems. High blood calcium can build up in the kidneys (nephrocalcinosis) and affect kidney function. It starts in the newborn period or infancy.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Blue urine stains on diapers
- Diarrhea
- Calcium buildup in the kidneys (nephrocalcinosis)
- Fever and irritability
- Trouble gaining weight
- Vision problems
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include genetic specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- Genetic specialists (geneticists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with rare disease patient organizations for support
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
GARD says the exact defect is uncertain but is believed to involve how the gut absorbs tryptophan, and may be linked to changes in the LAT2 and TAT1 genes. Inheritance is autosomal recessive or X-linked recessive.
Also known as: blue diaper syndrome; drummond syndrome; familial hypercalcemia-nephrocalcinosis-indicanuria syndrome; hypercalcemia, familial, with nephrocalcinosis and indicanuria
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Tryptophan malabsorption syndrome.
Explore research for Tryptophan malabsorption syndrome
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