Urea cycle disorder presenting as bilateral mesial temporal sclerosis – an unusual cause of seizures: a case report and review of the literature

摘要

BackgroundUrea cycle disorders are secondary to defects in the system converting ammonia into urea, causing accumulation of ammonia and other byproducts which are neurotoxic. Ornithine transcarbamylase deficiency is the most common of the urea cycle disorders and frequently presents with coma or seizures during hyperammonemia. However, seizures can also occur without metabolic decompensation.