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Abstract
The deficiency of hypoxanthine-guanine phosphoribosyltransferase (HGPRT) in patients
with the Lesch-Nyhan syndrome is accompanied by an increased specific activity of
adenine phosphoribosyltransferase (APRT) and inosinic acid dehydrogenase (IMP-DH)
as well as an increased concentration of phosphoribosylpyrophosphate (PP-ribose-P)
in erythrocytes. In the present study we describe a 2 to 10 fold increase in the activity
of orotate phosphoribosyltransferase (OPRT) and orotidylic decarboyxlase (ODC) in
erythrocytes from patients with this disease. In contrast to the findings with the
APRT and IMP-DH enzymes, the increased activity of OPRT and ODC cannot be attributed
to enzyme stabilization. The increased activity of these 2 enzymes does not appear
to be a generalized phenomenon occurring in all cell types.
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References
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Article info
Publication history
Accepted:
October 4,
1972
Received:
May 8,
1972
Footnotes
☆Supported in part by United States Public Health Service Grants AM 14362 and AM 05620, Cerebral Palsy Grant No. R-247-71, and a grant (RR30) from the General Clinical Research Centers Program of the Division of Research Resources, National Institutes of Health.
Identification
Copyright
© 1973 Published by Elsevier Inc.