How is ADA deficiency diagnosed?

Updated: Aug 11, 2020
  • Author: Francisco J Hernandez-Ilizaliturri, MD; Chief Editor: Emmanuel C Besa, MD  more...
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Answer

ADA deficiency can be evaluated by demonstrating the following:

  • Absent ADA levels in lysed erythrocytes
  • A marked increase in dATP levels in erythrocytes
  • A significant decrease in ATP concentration in red blood cells
  • Absent or extremely low levels of N-adenosylhomocysteine hydrolase in red blood cells
  • An increase in 2'-deoxyadenosine in urine and plasma

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