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THE IMP DEHYDROGENASE CATALYSED REACTION IN ERYTHROCYTES OF NORMAL INDIVIDUALS AND PATIENTS WITH HYPOXANTHINE GUANINE PHOSPHORIBOSYLTRANSFERASE DEFICIENCY
Author(s) -
LOMMEN E. J. P.,
ABREU R. A. DE,
TRIJBELS J. M. F.,
SCHRETLEN E. D. A. M.
Publication year - 1974
Publication title -
acta pædiatrica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.772
H-Index - 115
eISSN - 1651-2227
pISSN - 0803-5253
DOI - 10.1111/j.1651-2227.1974.tb04362.x
Subject(s) - hypoxanthine guanine phosphoribosyltransferase , hypoxanthine , hypoxanthine phosphoribosyltransferase , phosphoribosyltransferase , lesch–nyhan syndrome , dehydrogenase , nucleotide , medicine , biochemistry , nad+ kinase , purine , microbiology and biotechnology , enzyme , chemistry , biology , gene , mutant
Summary This paper deals with a preliminary investigation concerning the possible mechanisms causing an aberrant purine nucleotide pattern in erythrocytes of hypoxanthine guanine phos phoribosyltransferase deficient individuals (Lesch‐Nyhan Syndrome). The AMP deaminase inhibitor 2,3 DPG has been found to be also a strong inhibitor of IMP dehydrogenase obtained from normal erythrocytes. IMP dehydrogenase from HGPRT‐ase deficient erythrocytes, however, showed a complete hensitivity for this inhibition.