Effect of Genetically Caused Excess of Brain Gamma-Hydroxybutyric Acid and GABA on Sleep

摘要: Background Exogenous gamma-hydroxybutyrate (GHB) increases slow-wave sleep and reduces daytime sleepiness cataplexy in patients with primary narcolepsy. Objective To examine nighttime a 13-year-old girl homozygous for succinic semialdehyde dehydrogenase (SSADH) deficiency, rare recessive metabolic disorder that disrupts the normal degradation of 4-aminobutyric acid (GABA), leads to an accumulation GHB GABA within brain. Methods Sleep interview, polysomnography, Multiple Latency Tests, continuous 24-hour in-lab recordings patient; overnight polysomnography her mother female control. Results During quiet wakefulness, background electroencephalographic activity was slow composed 7-Hz activity. stage 3/4 slightly increased (28.1% total period, norms 15%-28%), mean latency short patient (3 minutes 42 seconds, > 8 minutes). Stage 2 spindles were infrequent child (0.18/minute, norms: 1.2-9.2/minute) (0.65/minute) but (4.6/minute) At beginning second night, tonic-clonic seizure occurred, followed by dramatic increase sleep, lasted 46.3 % double value. The showed reduced time rapid eye movement percentage. Discussion This suggests chronic excess induces subtle abnormalities, whereas evoked sudden event (here epileptic seizure) may be caused supplementary GHB.