Search results for "Succinic semialdehyde"
showing 2 items of 2 documents
Detection of γ‐hydroxybutyric acid‐related acids in blood plasma and urine: Extending the detection window of an exogenous γ‐hydroxybutyric acid inta…
2021
In crimes facilitated by γ-hydroxybutyric acid (GHB) administration, the frequent occurrence of anterograde amnesia of the victims as well as the short detection window and variations of endogenous GHB concentrations complicate obtaining analytical proof of GHB administration. Because elevated endogenous organic acid concentrations have been found in the urine of patients with succinic semialdehyde deficiency (leading to accumulation of GHB in human specimens) and after GHB ingestion, we searched for an alternative way to prove GHB administration via detection of elevated organic acid concentrations in blood plasma and urine. We collected blood and urine samples from narcolepsy patients (n …
THERAPEUTIC EFFICACY OF MAGNESIUM VALPROATE IN SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY
2012
Succinic semialdehyde dehydrogenase deficiency (SSADHD or gammahydroxybutyric aciduria), a disorder of γ-aminobutyric acid (GABA) metabolism, manifests as a slowly progressive or static encephalopathy. The latter encompasses prominent cognitive dysfunction, neuropsychiatric morbidity and epilepsy.We report safe and effective treatment with MgVPA in an adolescent female with SSADHD and seizures refractory to a broad spectrum of antiepileptics. MgVPA therapy (20 mg/Kg/day) was introduced at 7 years based upon behavioural difficulties and EEG alterations without adverse effects. Therapy was halted at age 13 years, and reintroduced at 14 years, due to new onset complex partial seizures. EEG dem…