title: Therapeutic efficacy of magnesium valproate in succinic semialdehyde dehydrogenase deficiency.
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.
authors: Department of Child and Adolescent Neuropsychiatry, University of Palermo, Palermo, Italy, elena.vanadia@libero.it.
authors: Elena
authors: E
authors: Vanadia
authors: K Michael
authors: KM
authors: Gibson
authors: Phillip L
authors: PL
authors: Pearl
authors: Emanuele
authors: E
authors: Trapolino
authors: Salvatore
authors: S
authors: Mangano
authors: Francesca
authors: F
authors: Vanadia