Abstract
Selective lymphopenla and Immunodeficiency are known clinical consequences of ADA deficiency (ADA-D) which also causes biochemical abnormalities In RBC's, notably a marked accumulation of dATP. In reported cases, RBC ATP has been normal or elevated. Decreased RBC survival has not been described. We studied a 9 month old girl with ADA-D who, at diagnosis, also had a heinz body (+) HA, with retlculocytosls and ahaptogloblnemla. Her RBC's showed an increased tendency to lyse spontaneously in vitro, which was not corrected by addition of glucose. RBC ATP, measured on four occasions, was 0.5-0.81 umol/ml (controls=1.42±0.35), and the level of dATP 1.0-1.53 umol/ml (normally <0.002), with a ratio of ATP:dATP of 0.46-0.67. We have previously defined a mechanism by which accumulation of dATP causes ATP catabolism in ADA inhibited lymphoid cells in vitro. Moreover, in vivo treatment with deoxycoformycin (dCF), a potent ADA inhibitor, can result not only in dATP accumulation, but also in ATP depletion in RBC's, and in hemolysis. The occurrence in a patient with genetic ADA-D of both very low ATP:dATP ratio and hemolysls establishes that hemolysls is a consequence of ADA-D per se, and not of some effect of dCF unrelated to its inhibition of ADA. We conclude that ADA-D is among the inborn errors of metabolism, including pyruvate kinase deficiency and massively increased RBC ADA activity, that can cause HA due to ATP depletion.
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Kurtzberg, J., Haas, M., McManus, T. et al. HEMOLYTIC ANEMIA (HA) IN A CHILD WITH ADENOSINE DEAMINASE (ADA) DEFICIENCY. Pediatr Res 18 (Suppl 4), 244 (1984). https://doi.org/10.1203/00006450-198404001-00904
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DOI: https://doi.org/10.1203/00006450-198404001-00904