THERAPEUTIC EFFICACY OF MAGNESIUM VALPROATE INSUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY

Risultato della ricerca: Other

Abstract

Succinic semialdehyde dehydrogenase deficiency (SSADHD or gammahydroxybutyricaciduria), a disorder of γ-aminobutyric acid (GABA)metabolism, manifests as a slowly progressive or static encephalopathy.The latter encompasses prominent cognitive dysfunction, neuropsychiatricmorbidity and epilepsy.We report safe and effective treatment with MgVPAin an adolescent female with SSADHD and seizures refractory to a broadspectrum of antiepileptics. MgVPA therapy (20 mg/Kg/day) was introducedat 7 years based upon behavioural difficulties and EEG alterations withoutadverse effects. Therapy was halted at age 13 years, and reintroduced at14 years, due to new onset complex partial seizures. EEG demonstratedimprovement in epileptiform activity, associated with behavioural improvementin disinhibition, aggression and coprolalia. Though typically avoidedin SSADHD due to inhibitory effects on any residual enzymatic activity,valproate was effective and safe in our patient. Sodium valproate haspreviously demonstrated therapeutic utility in SSADHD, but the use ofthe magnesium conjugate has not been reported. Epilepsy remains wellcontrolled in our patient, with concomitant improvements in behaviouralsymptoms . Our results suggest that MgVPA intervention may have utilityin selected cases of SSADHD
Lingua originaleEnglish
Pagine140-140
Numero di pagine1
Stato di pubblicazionePublished - 2012

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