Mutations in ADSL cause adenylosuccinate lyase deficiency (ADSLD), an autosomal recessive disorder characterized by defects in purine metabolism and heterogeneous neurological phenotypes that include lack of eye-to-eye contact, auto-aggressive behavior, speech impairment, mild psychomotor delay, transient contact defects, autism spectrum disorder, epilepsy, and in some cases, microcephaly, encephalopathy, ataxia, or coma vigil (Jaeken and Van den Berghe, 1984; Jurecka et al., 2015). The gene discussed is ADSL; the disease is adenylosuccinate lyase deficiency.