Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS) triggered by valproate therapy
| Autor: | Ching-Wan Lam, C. H. Lau, Y. W. Chan, J. C. Williams, L. J. C. Wong |
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| Rok vydání: | 1997 |
| Předmět: |
Male
Mitochondrial encephalomyopathy medicine.medical_specialty Encephalopathy Mitochondrion MELAS syndrome DNA Mitochondrial Oxidative Phosphorylation Electron Transport Complex IV chemistry.chemical_compound Mitochondrial myopathy Internal medicine MELAS Syndrome medicine Humans Child Valproate pivoxil Acidosis business.industry Valproic Acid medicine.disease Pedigree Endocrinology chemistry Lactic acidosis Pediatrics Perinatology and Child Health Anticonvulsants medicine.symptom business |
| Zdroj: | European Journal of Pediatrics. 156:562-564 |
| ISSN: | 1432-1076 0340-6199 |
| DOI: | 10.1007/s004310050663 |
| Popis: | We report in this study a patient who developed repeated convulsions as a result of valproate therapy. MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes) was subsequently diagnosed and a nucleotide 3243 A--G mutation was detected in the mitochondrial DNA. This mutation predisposes the patient to the detrimental effects of valproate on oxidative phosphorylation.We support the suggestion of Ponchaut et al. [14] that valproate should not be given to patients suspected of having mitochondrial diseases. In addition, for patients whose seizures worsen with valproate therapy, an inborn error of mitochondrial metabolism should be suspected. The underlying mitochondrial DNA defects should be sought for family screening and genetic counselling. |
| Databáze: | OpenAIRE |
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