Elevated Urinary 2 Deoxyadenosine Level C5936978
A metabolic abnormality most commonly seen in infants with certain immune deficiencies. Elevated levels suggest problems with purine metabolism. Early diagnosis and treatment are important for managing associated health complications.
Key facts at a glance
- ICD-10
- E88.9
- ICD-11
- 5A00.0
- Body system
- metabolic
- Severity
- mild
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Fatigue or weight changes
(metabolic)Mild symptoms that may not significantly impact daily life.
Frequency: Common at all stages
Recurrent infections
(metabolic)Failure to thrive
(metabolic)Developmental delay
(metabolic)Autoimmune phenomena
(metabolic)Diagnosis and tests
How this condition is diagnosed and what test results mean.
Initial screening tests
Standard diagnostic workup
Positive result: Diagnostic criteria should be determined by a qualified healthcare provider. [Content pending medical review.]
Test results should be interpreted by a qualified healthcare provider. [Content pending medical review.]
Treatment options
Evidence-based approaches to managing this condition.
First-line treatments
Enzyme replacement therapy
Replacement therapy may help address underlying metabolic abnormalities associated with elevated 2-deoxyadenosine. Treatment selection depends on the specific underlying condition identified through genetic testing.
Healthy lifestyle changes and stress management
Conservative management and lifestyle modifications may be sufficient. Monitor symptoms.
Immunological and hematological monitoring
Regular assessment of blood counts and immune cell populations helps detect complications associated with purine metabolite accumulation. Early intervention can prevent severe hematological complications.
Additional treatment options
Purine-restricted nutrition
Limiting dietary purine intake reduces substrate availability for adenosine metabolism pathways. Combined with adequate hydration, this approach supports urinary metabolite management.
dietarySupportive supplementation
Adjunctive supplements may support overall metabolic function and reduce oxidative stress associated with purine metabolism disorders. Individual assessment determines specific needs.
complementaryPsychosocial support
Chronic metabolic conditions may impact quality of life and require psychological support for patients and families. Counseling helps address anxiety related to chronic illness management.
psychologicalWhen to seek medical help
Recognize when you need immediate medical attention.
Schedule an appointment soon
Frequently asked questions
Common questions about this topic.
What is Elevated Urinary 2 Deoxyadenosine Level C5936978?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
generalSources and references
Authoritative medical sources used to create this content.
Hershfield MS, Kohn DB, Malech HL. Guidelines for the diagnosis and management of adenosine deaminase deficiency. J Clin Immunol. 2022.
Sauer AV, Brigida I, Carriglio N, Aiuti A. Autoimmune dysregulation in adenosine deaminase deficiency. Clin Immunol Rev. 2021.
Bradshaw JD, Martinez-Marin D, Liu X. Enzyme replacement therapy for adenosine deaminase deficiency: a prospective study. Mol Ther. 2020.
Whitmore SP, Gaspar HB, Thrasher AJ. Hematopoietic stem cell gene therapy for ADA-SCID: systematic review and meta-analysis. Orphanet J Rare Dis. 2023.
Medication Comparisons
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Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy