Key-words Disease name and synonyms Definition Excluded diseases Diagnosis criteria Differential diagnosis Prevalence Molecular defect Clinical description Management including treatment Etiology Diagnostic methods Antenatal diagnosis Unresolved questions References Abstract Adenine phosphoribosyltransferase (APRT) catalyzes the synthesis of AMP (adenosine monophosphate) from adenine and 5'-pho...

Several possible mechanisms underlying isoguanine formation when OH radical attacks the C(2) position of adenine (A C 2) are investigated theoretically for the first time. Two steps are involved in this process. In the first step, one of two low-lying A C 2⋅⋅⋅OH reactant complexes is formed, leading to C(2)-H(2) bond cleavage. Between the two reactant complexes there is a small isomerization ba...

Human adenine phosphoribosyltransferase has been purified 33,000-fold from erythrocytes to a specific activity of 9.58 pmoles of AMP formed per mg of protein per min. The native enzyme has a molecular weight of 34,000 and is composed of three subunits of equal molecular weight which appear to be associated by noncovalent forces. The highly purified enzyme is maximally active over a broad pH ran...