Abstract

Homocystinuria is an inherited disorder which affects multiple organ systems due to enzyme deficiencies involved in methionine metabolism. This study investigates a 9-year-old boy who had initially been followed up with partial epilepsy diagnosis for 2 years. The patient who had been operated for lens dislocation had elevated serum homocysteine concentrations. Homocystinuria was diagnosed in this patient since his urine metabolic screening was positive for cyanide nitroprusside test, and he had elevated blood and urine methionine concentrations. This study aims to emphasize the importance, in terms of early diagnosis and treatment, of considering neurometabolic disorders in the differential diagnoses of epilepsy, particularly when seizures are accompanied by other system findings.

Key words: Homocystinuria, epilepsy, child