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A high performance liquid chromatographic assay for AMP‐deaminase activity in the erythrocytes of healthy subjects and patients with inherited purine disorders
Author(s) -
Smolenski Ryszard T.,
Montero Celia,
Rodgers A. Victoria,
Simmonds H. Anne
Publication year - 1991
Publication title -
biomedical chromatography
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.4
H-Index - 65
eISSN - 1099-0801
pISSN - 0269-3879
DOI - 10.1002/bmc.1130050407
Subject(s) - adenosine deaminase , chemistry , hypoxanthine guanine phosphoribosyltransferase , amp deaminase , hypoxanthine phosphoribosyltransferase , purine , hypoxanthine , lesch–nyhan syndrome , adenine phosphoribosyltransferase , purine metabolism , population , phosphoribosyltransferase , biochemistry , chromatography , enzyme , medicine , environmental health , mutant , gene
A novel method for measuring AMP‐deaminase activity in human erythrocytes is presented, based on the determination of the reaction product, IMP, using high performance liquid chromatography. IMP formation was found to be proportional both to the incubation time and the amount of haemolysate over a wide range. The minimal detectable AMP‐deaminase activity was more than 1000 times lower than the mean activity found in healthy controls (1083 nmol/h/mg Hb). No marked difference of activity was found in the patients with the following inherited purine disorders: familial juvenile gouty nephropathy and deficiencies of adenosine deaminase, hypoxanthine‐guanine phosphoribosyltransferase or adenine phosphoribosyltransferase. The activity in the erythrocytes of patients with chronic renal failure was also similar to controls. The existence of subjects with low erythrocyte AMP‐deaminase activity in the population has been confirmed.