Adenosine deaminase [ADA] deficiency
ICD-10 D81.3 is a billable code used to indicate a diagnosis of adenosine deaminase [ada] deficiency.
Adenosine deaminase (ADA) deficiency is a rare autosomal recessive disorder characterized by a deficiency of the enzyme adenosine deaminase, which is crucial for purine metabolism. This deficiency leads to the accumulation of toxic metabolites, particularly deoxyadenosine and deoxyATP, which are detrimental to lymphocytes, resulting in severe combined immunodeficiency (SCID). Patients typically present in infancy with recurrent infections, failure to thrive, and lymphopenia. The condition can lead to life-threatening complications, including opportunistic infections and autoimmune disorders. Diagnosis is confirmed through enzyme activity assays and genetic testing. Treatment options include enzyme replacement therapy, hematopoietic stem cell transplantation, and supportive care to manage infections. Early diagnosis and intervention are critical to improving outcomes and quality of life for affected individuals.
Detailed history of recurrent infections, growth parameters, and laboratory results.
Infants presenting with failure to thrive and recurrent infections.
Documentation must clearly outline the immunodeficiency and any associated complications.
Complete blood counts, lymphocyte subset analysis, and enzyme activity assays.
Patients undergoing evaluation for SCID or other immunodeficiencies.
Must document any treatments such as stem cell transplants or enzyme replacement therapy.
Used to confirm diagnosis of ADA deficiency.
Results of enzyme activity must be documented.
Pediatric and hematology specialists should ensure accurate test results are linked to the diagnosis.
ADA deficiency is primarily caused by mutations in the ADA gene, leading to a lack of the enzyme necessary for purine metabolism.
Diagnosis is made through enzyme activity assays that measure ADA levels in blood or lymphocytes, along with genetic testing to confirm mutations.
