Adenylosuccinate Lyase Deficiency (ADSL) and Report the First Case from Iran

Abstract

1. Abstract

Adenylosuccinate lyase deficiency is a neurometabolic disorder associated by accumulation of succinylpurines in body fluids that causes encephalopathy. It’s a rare neurological dysfunction with psychomotor retardation and epilepsy. We introduce here a five-and-a-half-year-old patient who was referred to the Neurology Department, Mofid Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran.