Case Report - Severe phenytoin toxicity in a CYP2C9*3*3 homozygousmutant from India
2007
The authors report an Indian adult female patient with a history of
generalized tonic clonic seizures who developed severe features of
phenytoin (DPH) toxicity on therapeutic dosage of this antiepileptic
drug. Administration of 300mg/day of DPH in this patient resulted in
toxic symptoms associated with an excessive serum DPH concentration of
33μg/ml. The PCR-RFLP analysis revealed a homozygosity involving
CYP2C9*3*3. This mutation results in a marked decrease in the enzymatic
activity (CYP2C9) and leads to a decreased clearance of the drug which
can lead to severe acute and chronic toxicity. On switching the
antiepileptic therapy from DPH to sodium valproate, there was reversal
of both.
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