2025 Volume 43 Issue 1 Pages 14-19
Metabolic epilepsy is epilepsy caused by metabolic abnormalities, often with a genetic component. Metabolic abnormalities result in impaired energy supply to the central nervous system, accumulation of toxic substances and abnormal neurotransmitters, which trigger seizures. Symptoms other than epileptic seizures (e.g. hypoglycaemia, inactivity, recurrent physical deterioration) are important for diagnosis. Diagnosis is based on blood tests, metabolic screening, MRI of the head and genetic analysis, with genetic analysis improving the accuracy of diagnosis. Treatment consists of correction of metabolic abnormalities and management of seizures. Treatment of metabolic disorders includes nutritional therapy and enzyme replacement. Antiseizure medication and ketone diet therapy are used to treat epileptic seizures. Although metabolic epilepsy is rare, it should be differentiated to avoid overlooking a condition for which there is a specific treatment.