Clinical, biochemical and molecular findings in seven Polish patients with adenylosuccinate lyase deficiency

Abstract

In this study we report diagnostics of seven Polish patients with adenylosuccinate lyase deficiency based on metabolite profiling, enzyme activity measurements, mutation analysis and recombinant protein characterisation

Keywords

• adenylosuccinate lyase
• purine metabolism
• SAICAriboside
• succinyladenosine epileptic encephalopathy
• psychomotor retardation with autistic
• features