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Case Report: Malaysian patient compound heterozygous for two novel ADSL mutations giving rise to adenylosuccinate lyase deficiency.
Missense mutations in the adenylosuccinate lyase is associated with Adenylosuccinate lyase deficiency, an inborn error of purine metabolism characterized by neurological and physiological symptoms.
structural and biochemical characterization data of WT and mutant R303C ADSL by enzyme kinetics, product binding by isothermal titration calorimetry and X-ray crystallography to reveal the effects of the R303C mutation that results in a nonparallel reduction in enzyme activity
Results proved in cultured skin fibroblasts from patients with AICA-ribosiduria and ADSL deficiency that various mutations of ADSL destabilize to various degrees purinosome assembly and found that the ability to form purinosomes correlates with clinical phenotypes of individual ADSL patients.
D-ribose administration in Polish patients with adenylosuccinate lyase deficiency was accompanied by neither reduction in seizure frequency nor growth enhancement.
the cases of the only three children diagnosed to date in the United Kingdom with adenylosuccinate lyase deficiency
Mutation of a nuclear respiratory factor 2 binding site in the 5' untranslated region of the ADSL gene in three patients with adenylosuccinate lyase deficiency.
Mutations at position 276 result in structurally impaired adenylosuccinate lyases which are assembled into the defective tetramers associated with the mild variant of ADSL deficiency in humans.
Variable expression of ADSL deficiency is reported in three patients belonging to a family which originates from Portugal.
a mutation in adenylosuccinate lyase may be associated with autism
Expression levels of ADSL, GARS-AIRS-GART (show GART Proteins), and DGAT1 (show DGAT1 Proteins) were higher in longissimus lumborum muscle than in heart or liver tissues
Adenylsuccinate lyase is involved in both de novo synthesis of purines and formation of adenosine monophosphate from inosine monophosphate. It catalyzes two reactions in AMP biosynthesis: the removal of a fumarate from succinylaminoimidazole carboxamide (SAICA) ribotide to give aminoimidazole carboxamide ribotide (AICA) and removal of fumarate from adenylosuccinate to give AMP. Adenylosuccinase deficiency results in succinylpurinemic autism, psychomotor retardation, and , in some cases, growth retardation associated with muscle wasting and epilepsy. Two transcript variants encoding different isoforms have been found for this gene.
, Adenylosuccinate lyase
, adenylosuccinate lyase-like
, adenylosuccinate lyase 1
, adenysuccinate lyase