anti- Adenylosuccinate lyase antibody

ADSL(adenylosuccinate lyase) is also named as AMPS, ASase, ASL and belongs to the lyase 1 family. It is an enzyme involved in 2 pathways of purine nucleotide metabolism and catalyzes cleavage of succinyl groups to yield fumarate(PMID:18524658). Defects in ADSL are the cause of adenylosuccinase deficiency(ADSL deficiency). In humans, mutations in ADSL lead to an inborn error of metabolism originally characterized by developmental delay, often with autistic features(PMID:20884265)..The ADSL enzymatic activity is reduced in lymphocytes and red blood cells of the patient with severe psychomotor retardation(PMID:9545543). It has 2 isoforms produced by alternative splicing.