The treatment of seizures due to inherited metabolic disease, chromosomal defects, and brain malformations is notoriously difficult. Pyridoxine-dependent epilepsy can be effectively managed by supplementation with vitamin B6, and giving biotin effectively treats biotinidase deficiency. For some of the amino acid, organic acid, and urea cycle disorders, dietary manipulation may be helpful. Selected cases of certain leukodystrophies (i.e., globoid cell leukodystrophy or adrenoleukodystrophy) in the early stage of illness may be amenable to bone marrow transplantation.
For most genetically determined disorders, however, polypharmacy may be needed. Valproic acid, clonazepam, lamotrigine, and vigabatrin are the therapeutic mainstays.
Controlling stimuli such as noise may reduce the frequency of seizures in patients with stimulus-sensitive myoclonus. Background music in the nursery may also help to raise some children’s seizure threshold.
Frequent small feedings can help patients with mitochondrial disorders to circumvent their deficits in energy production.
Avoidance of metabolic stresses such as fever is also important.
Adapted from: Kolodny, EH. Metabolic and genetic disorders. In: Devinsky O and Westbrook LE, eds. Epilepsy and Developmental Disabilities. Boston: Butterworth-Heinemann; 2001;17–22.
With permission from Elsevier (www.elsevier.com).
