Adenylosuccinate lyase defi6
- Point mutations in adenylosuccinate that cause lowered enzymatic activity cause clinical symptoms that mark the condition adenylosuccinate lyase deficiency. (wikipedia.org)
- More than 50 mutations in the ADSL gene have been found to cause adenylosuccinate lyase deficiency. (medlineplus.gov)
- Detection of these substances in body fluids can help with diagnosis of adenylosuccinate lyase deficiency. (medlineplus.gov)
- damage to brain tissue caused by one or both of these substances likely underlies the neurological problems that occur in adenylosuccinate lyase deficiency. (medlineplus.gov)
- Studies suggest that the amount of SAICAr relative to S-Ado reflects the severity of adenylosuccinate lyase deficiency. (medlineplus.gov)
- Zikanova M, Skopova V, Hnizda A, Krijt J, Kmoch S. Biochemical and structural analysis of 14 mutant adsl enzyme complexes and correlation to phenotypic heterogeneity of adenylosuccinate lyase deficiency. (medlineplus.gov)
Mutants2
- 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)
SAICAR2
- 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)
Gene2
- Adenylosuccinate lyase (or adenylosuccinase) is an enzyme that in humans is encoded by the ADSL gene. (wikipedia.org)
- The ADSL gene provides instructions for making an enzyme called adenylosuccinate lyase. (medlineplus.gov)
Enzyme2
- 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)
ADSL1
- Structural and biochemical characterization of human adenylosuccinate lyase (ADSL) and the R303C ADSL deficiency-associated mutation. (medlineplus.gov)
Studies1
- 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)
Autosomal recessive2
- 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)
Deficiency1
- Structural and biochemical characterization of human adenylosuccinate lyase (ADSL) and the R303C ADSL deficiency-associated mutation. (medlineplus.gov)