Premium
Annual Symposium of the Society for the Study of Inborn Errors of Metabolism
Author(s) -
Vanadia, E,
Gibson, KM,
Pearl, PL,
Trapolino, E,
Mangano, S,
Vanadia, F
Publication year - 2012
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/s10545-012-9512-z
Subject(s) - citation , library science , inborn error of metabolism , medicine , pediatrics , computer science , endocrinology
Succinic semialdehyde dehydrogenase deficiency (SSADHD or gammahydroxybutyric\udaciduria), a disorder of γ-aminobutyric acid (GABA)\udmetabolism, manifests as a slowly progressive or static encephalopathy.\udThe latter encompasses prominent cognitive dysfunction, neuropsychiatric\udmorbidity and epilepsy.We report safe and effective treatment with MgVPA\udin an adolescent female with SSADHD and seizures refractory to a broad\udspectrum of antiepileptics. MgVPA therapy (20 mg/Kg/day) was introduced\udat 7 years based upon behavioural difficulties and EEG alterations without\udadverse effects. Therapy was halted at age 13 years, and reintroduced at\ud14 years, due to new onset complex partial seizures. EEG demonstrated\udimprovement in epileptiform activity, associated with behavioural improvement\udin disinhibition, aggression and coprolalia. Though typically avoided\udin SSADHD due to inhibitory effects on any residual enzymatic activity,\udvalproate was effective and safe in our patient. Sodium valproate has\udpreviously demonstrated therapeutic utility in SSADHD, but the use of\udthe magnesium conjugate has not been reported. Epilepsy remains well\udcontrolled in our patient, with concomitant improvements in behavioural\udsymptoms . Our results suggest that MgVPA intervention may have utility\udin selected cases of SSADH