Adenosine deaminase deficiency

{
  "id": "MLC-T-CHM-000242",
  "term": "Adenosine deaminase deficiency",
  "field": "Chemistry",
  "definition": "A genetic disorder caused by a mutation in the gene encoding adenosine deaminase, an enzyme involved in purine metabolism. This deficiency leads to the accumulation of toxic metabolites, particularly deoxyadenosine triphosphate, which impairs the development and function of lymphocytes. It is a cause of severe combined immunodeficiency (SCID), leaving affected individuals highly susceptible to infections.",
  "synonyms": [
    "ADA Deficiency"
  ],
  "subject": "Chemistry and Human Health",
  "see_also": [
    "severe combined immunodeficiency"
  ],
  "references": [
    "PAC, 2012, 84, 1113. 'IUPAC glossary of terms used in immunotoxicology (IUPAC Recommendations 2012)' on page 1118 (https://doi.org/10.1351/PAC-REC-11-06-03)"
  ],
  "url": "https://mlchart.com/terminology/chemistry/adenosine-deaminase-deficiency/"
}