ADSL

Gene product: Adenylosuccinate lyase.

Protein function: Adenylosuccinate lyase is an enzyme involved in 2 pathways of purine nucleotide metabolism. It catalyzes cleavage of succinyl groups to yield fumarate: the conversion of succinylaminoimidazole carboxamide ribotide (SAICAR) into aminoimidazole carboxamide ribotide (AICAR) along the de novo pathway, and the formation of adenylate (AMP) from adenylosuccinate (S-AMP) in the conversion of inosine monophosphate (IMP) into adenine nucleotides in the purine nucleotide cycle.

Phenotype: Adenylosuccinase deficiency (AR) (Some may present as Infantile Epileptic Spasms Syndrome, Lennox-Gastaut Syndrome, and Epilepsy Of Infancy With Migrating Focal Seizures)[1].

Mutation database: ClinVar.

Clinical research: PubMed (PMID: 32681428 (J Inherit Metab Dis. 2021), 28487569 (Sci Rep. 2017)).

Medication reminder: There is currently no enzyme replacement therapy for this disease, but D-ribose and a ketogenic diet have been reported to be effective in some patients[1].

References:

1. Mao X, Li K. Novel mutations in ADSL for Adenylosuccinate Lyase Deficiency identified by the combination of Trio-WES and constantly updated guidelines. Sci Rep. 2017 May 9;7(1):1625.