We report a 3 year-old girl with a myoclonic epilepsy. A fatal hepatic failure occurred after 3 months of valproate (VPA) therapy. In this patient, a defect of cytochromec oxidase (COX) was demonstrated in her circulating lymphocytes. The enzyme was also found to be deficient in post-mortem liver and in cultured skin fibroblasts. However, a fully functional respiratory chain was found in muscle. VPA administration apparently triggered the hepatic failure, given this patient's background of partial COX deficiency.
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Chabrol, B., Mancini, J., Chretien, D. et al. Valproate-induced hepatic failure in a case of cytochromec oxidase deficiency. Eur J Pediatr 153, 133–135 (1994). https://doi.org/10.1007/BF01959226
- Hepatic failure
- COX defect