Genetic Mechanism(S) Responsible for a Deficiency of Adenine Phosphoribosyltransferase in Man
Adenine phosphoribosyltransferase (APRT) is a relatively non-abundant soluble enzyme which in man is coded for by a single structural gene on chromosome 16 (1). A partial deficiency of APRT in man was first described in 1968 (2). These subjects were asymptomatic and were shown to be heterozygous for the enzyme defect. A complete deficiency of APRT activity has now been described in several patients with renal calculi composed of 2,8-dihydroxyadenine who are homozygous for the enzyme defect (reviewed in ref. 3). The genetic mechanisms responsible for an inherited deficiency of APRT however have remained undefined.
KeywordsImmunoreactive Protein Enzyme Defect Adenine Phosphoribosyltransferase APRT Deficiency Clinical Science Laboratory
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