adenine phosphoribosyltransferase


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ad·e·nine phosphoribosyltransferase

[MIM*102600]
an enzyme that catalyzes the reaction of adenine with 5-phospho-α-d-ribose 1-diphosphate (PRPP) to form AMP and pyrophosphate. An important step in purine salvage. A deficiency of this enzyme can lead to 2,8-dihydroxyadenine lithiasis.
References in periodicals archive ?
Diagnosis of Adenine Phosphoribosyltransferase Deficiency
Treatment of Adenine Phosphoribosyltransferase Deficiency
Phenotype and genotype characterization of adenine phosphoribosyltransferase deficiency.