• Adenylosuccinate lyase mutants can have considerably reduced activity whether the mutation is in or away from the active site. (wikipedia.org)
  • Biochemical and biophysical analysis of five disease-associated human adenylosuccinate lyase mutants. (medlineplus.gov)
  • As part of this complex, adenylosuccinate lyase converts a molecule called succinylaminoimidazole carboxamide ribotide (SAICAR) to aminoimidazole carboxamide ribotide (AICAR) and converts succinyladenosine monophosphate (SAMP) to adenosine monophosphate (AMP). (medlineplus.gov)
  • A reduction of adenylosuccinate lyase function, possibly due to a shortage of purinosomes, leads to buildup of SAICAR and SAMP. (medlineplus.gov)
  • Adenylosuccinate lyase (ASL) is an enzyme that catalyzes two reactions in the de novo purine biosynthetic pathway. (wikipedia.org)
  • Most of the mutations involved in this condition change single protein building blocks (amino acids) in the adenylosuccinate lyase enzyme. (medlineplus.gov)
  • APBADP is a competitive inhibitor for both of the reactions catalyzed by adenylosuccinate lyase, and kinetic studies with APBADP show that the substrates for both reactions use the same active site. (wikipedia.org)
  • Adenylosuccinate lyase (ADSL) deficiency is a rare autosomal recessive disorder, which causes a defect in purine metabolism resulting in neurological and physiological symptoms. (nih.gov)
  • Adenylosuccinase deficiency is an autosomal recessive inborn error of metabolism caused by an enzymatic defect in de novo purine synthesis (DNPS) pathway. (nih.gov)