Abstract
Adenylosuccinate lyase (adenylosuccinase, ASase) catalyzes both the conversion of succinylaminoimidazole carboxamide (SAICAR) into AICAR in the de novo pathway of purine synthesis, and that of adenylosuccinate (S-AMP) into AMP in the conversion of IMP into AMP. The deficiency of ASase, the first enzyme deficiency reported in man on the purine biosynthetic pathway, was discovered in 1984 (1). The hallmark of the defect is the accumulation in body fluids, particularly cerebrospinal fluid and urine, of two normally undetectable compounds, SAICAriboside and succinyladenosine (S-Ado). These succinyl-purines are the products of the dephosphorylation of the two substrates of ASase by cytosolic 5’-nucleotidase(s) (2).
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