4.3.2.2	evolution	the enzyme structurally resembles the enzymes of the aspartase/fumarase superfamily, conserved flexible C3 loop, phylogenetic analysis	729717	
4.3.2.2	evolution	the enzyme structure adheres to the fold of the enzymes of the aspartase/fumarase superfamily, conserved flexible C3 loop, phylogenetic analysis	729717	
4.3.2.2	malfunction	a defect in the colonization phenotype is attributed to the disruption in adenylosuccinate lyase	709768	
4.3.2.2	malfunction	adenylosuccinate lyase deficiency causes encephalopathy with epilepsy and marked psychomotor retardation	708545	
4.3.2.2	malfunction	adenylosuccinate lyase deficiency is characterized by the accumulation of 5-aminoimidazole-4-(N-succinylcarboxamide) ribonucleotide and succinyladenosine in tissue and body fluids	710131	
4.3.2.2	malfunction	ADSL deficiency is an autosomal recessive disorder, characterized by severe neurologic involvement including seizures, developmental delay, hypotonia, and autistic features	710076	
4.3.2.2	malfunction	ADSL enzyme deficiency is a disorder of purine metabolism with a broad clinical spectrum. The enzyme deficit causes a highly variable clinical presentation varying from a relatively mild presentation with slight motor retardation and severe muscle hypotonia to severe neonatal onset convulsions accompanied by severe mental retardation	730526	
4.3.2.2	malfunction	enzyme mutation R303C is involved in ADSL deficiency, a rare autosomal recessive disorder, which causes a defect in purine metabolism resulting in neurological and physiological symptoms. The R303C mutation potentially has a disproportional decrease in activity toward its substrates	729218	
4.3.2.2	malfunction	knockdown of adenylosuccinate lyase causes small increases in AMP, ADP and ATP levels. It does not result in decreases in other adenine nucleotides	747484	
4.3.2.2	malfunction	missense mutations in the protein lead to enzyme deficiency, an inborn error of purine metabolism characterized by neurological and physiological symptoms. Enzyme deficiency is biochemically diagnosed by elevated levels of succinylaminoimidazolecarboxamide riboside and succinyladenosine, the dephosphorylated derivatives of the substrates. Succinyladenosine/succinylaminoimidazolecarboxamide riboside ratios are associated with three phenotypic groups	729296