Adenylosuccinate lyase (ADSL) deficiency is a metabolic disorder that causes neurological symptoms. The rate of disability varies and the disease can be clinically classified into four basic types: neonatal form (prenatal hyperkinesis, lung hypoplasis, and prenatal growth abortion, following by fatal neonatal encephalopathy), severe infant form – type I (heavy psychomotor retardation, frequently early death), moderate to mild form – type II (psychomotor retardation, hypotony and autism) and very mild form. ADSL deficiency is a rare disorder, about 109 patients have been reported worldwide.

The inheritance of the disease is autosomal recessive, which means that both parents carry one copy of the mutated ADSL gene and an affected child interited both of them.

Diagnostics is based on the detection of two metabolites SAdo and SAICAr in urine and subsequently on the detection of mutations in the ADSL gene in DNA isolated from blood.

There is currently no cure for this rare disease, however, supportive care such as antiepileptic drugs is available.

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