ADSL catalyzes two distinct reactions in the synthesis of purine nucleotides, both of which involve the β-elimination of fumarate to produce aminoimidazole carboxamide ribotide (AICAR) from SAICAR or adenosine monophosphate (AMP) from S-AMP.

[citation needed] Patients with this form of ADSLD present with fatal neonatal encephalopathy, respiratory failure, a lack of spontaneous movement and intractable seizures.

Possible prenatal symptoms such as microcephaly, intrauterine growth restriction, loss of fetal heart rate variability and hypokinesia have been reported.

[9] The family of enzymes to which ADSL belongs and that catalyze β-eliminations in which fumarate is one of the products are homotetramers with four active sites composed of amino acid residues from three distinct subunits.

[9] ADSL deficiency in different people is often caused by different mutations to the enzyme, more than 50 different mutations in the ADSL gene have been discovered[10] In terms of the diagnosis of adenylosuccinate lyase deficiency one should look for (or exam/method):[4][3] In milder forms, epileptic seizures can be treated with anti-convulsants however, many patients with moderate to severe forms experience refractory epilepsy, which is not well controlled with medications.

[1] Although none has been proven effective, treatment options include:[5] The prognosis of this condition in childhood often has a stable outcome, although some experience a shortened lifespan.