Polysomnographic abnormalities in succinic semialdehyde dehydrogenase (SSADH) deficiency.

ABSTRACT: OBJECTIVES:Patients with SSADH deficiency, a disorder of chronically elevated endogenous GABA and GHB, were studied for sleep symptoms and polysomnography. We hypothesized that patients would have excessive daytime somnolence and decreased REM sleep. DESIGN:Polysomnography and MSLT were performed on patients enrolled for comprehensive clinical studies of SSADH deficiency. SETTING:Sleep studies were obtained in the sleep laboratories at CNMC and NIH. PATIENTS:Sleep recordings were obtained in 10 patients with confirmed SSADH deficiency. INTERVENTIONS:Thirteen overnight polysomnograms were obtained in 10 patients (7 male, 3 female, ages 11-27 y). Eleven MSLT studies were completed in 8 patients. MEASUREMENTS AND RESULTS:Polysomnograms showed prolongation of REM stage latency (mean 272 +/- 89 min) and decreased percent stage REM (mean 8.9%, range 0.3% to 13.8%). Decreased mean sleep latency was present in 6 of 11 MSLTs. CONCLUSIONS:SSADH deficiency is associated with prolonged latency to stage REM and decreased percent stage REM. This disorder represents a model of chronic GABA and GHB accumulation associated with suppression of REM sleep.

SUBMITTER: Pearl PL 

PROVIDER: S-EPMC2786049 | biostudies-literature | 2009 Dec

REPOSITORIES: biostudies-literature