THERAPEUTIC EFFICACY OF MAGNESIUM VALPROATE IN SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY

Salvatore Mangano, Emanuele Trapolino, Francesca Vanadia, Phillip L. Pearl, K. Michael Gibson

Risultato della ricerca: Articlepeer review

10 Citazioni (Scopus)

Abstract

Succinic semialdehyde dehydrogenase deficiency (SSADHD), a disorder of γ-aminobutyric acid (GABA) metabolism, manifests typically as a nonprogressive neurodevelopmental disorder with cognitive deficiency, neuropsychiatric morbidity and epilepsy. Therapy targets symptomatic seizures and neurobehavioral disturbances. We report an adolescent female with SSADHD whose unresponsiveness to a broad spectrum of antiepileptics was circumvented with magnesium valproate (MgVPA). Epilepsy remains well controlled in our patient, with concomitant improvements in behavioral symptoms and an absence of adverse symptoms. MgVPA intervention may have utility in SSADHD.
Lingua originaleEnglish
pagine (da-a)133-137
Numero di pagine4
RivistaJIMD Reports
Volume8
Stato di pubblicazionePublished - 2013

All Science Journal Classification (ASJC) codes

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  • ???subjectarea.asjc.2700.2712???
  • ???subjectarea.asjc.1300.1301???

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