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.