Metabolic and degenerative diseases associated with epilepsy

Identifying the specific etiology of epilepsy is often difficult. The search for the cause often leads the clinician to suspect inborn errors of intermediary metabolism and other degenerative metabolic diseases. Although these uncommon diseases are often difficult to determine, a correct diagnosis is critical for treatment and genetic counseling. A review of the relevant biochemistry will aid in understanding the pathophysiology of seizures in these conditions. The stream-lined approach to the initial laboratory evaluation that is offered will enable the clinician to screen for most metabolic and degenerative diseases that are associated with epilepsy.