Plasma deoxyadenosine, adenosine, and erythrocyte deoxyATP are elevated at birth in an adenosine deaminase-deficient child

We have determined concentrations of adenosine, deoxyadenosine, and deoxyATP (dATP) in cord blood from an infant prenatally diagnosed as ADA deficient. Plasma deoxyadenosine and adenosine were already elevated in cord blood (0.7 and 0.5 microM vs. normal of less than 0.07 microM). Elevation of plasm...

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Bibliographic Details
Published in:The Journal of clinical investigation 1980-03, Vol.65 (3), p.768-771
Main Authors: Hirschhorn, R, Roegner, V, Rubinstein, A, Papageorgiou, P
Format: Article
Language:English
Subjects:
Adenosine - blood
Adenosine Deaminase - deficiency
Deoxyadenine Nucleotides - blood
Deoxyadenosines - blood
Erythrocytes - metabolism
Female
Fetal Blood - metabolism
Humans
Infant
Infant, Newborn
Male
Maternal-Fetal Exchange
Nucleoside Deaminases - deficiency
Pregnancy
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Summary:We have determined concentrations of adenosine, deoxyadenosine, and deoxyATP (dATP) in cord blood from an infant prenatally diagnosed as ADA deficient. Plasma deoxyadenosine and adenosine were already elevated in cord blood (0.7 and 0.5 microM vs. normal of less than 0.07 microM). Elevation of plasma deoxyadenosine has not previously been documented in these children. Erythrocyte dATP content was also elevated at birth (215 nmol/ml packed erythrocytes vs. normal of 2.9). These elevated concentrations of adenosine, deoxyadenosine, and dATP are similar to those we observed in another older adenosine deaminase-deficient patient and may explain the impaired immune function and lymphopenia seen at birth.
ISSN:0021-9738
DOI:10.1172/JCI109725