title: Polysomnographic abnormalities in succinic semialdehyde dehydrogenase (SSADH) deficiency.
abstract: OBJECTIVE
  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.
  
  
  METHODS
  Polysomnography and MSLT were performed on patients enrolled for comprehensive clinical studies of SSADH deficiency.
  
  
  METHODS
  Sleep studies were obtained in the sleep laboratories at CNMC and NIH.
  
  
  METHODS
  Sleep recordings were obtained in 10 patients with confirmed SSADH deficiency.
  
  
  METHODS
  Thirteen overnight polysomnograms were obtained in 10 patients (7 male, 3 female, ages 11-27 y). Eleven MSLT studies were completed in 8 patients.
  
  
  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.
authors.affiliation: Neuroscience Center, CNMC, George Washington University School of Medicine, Washington, DC, USA. ppearl@cnmc.org
authors.forename: Phillip L
authors.initials: PL
authors.lastname: Pearl
authors.forename: Sadat
authors.initials: S
authors.lastname: Shamim
authors.forename: William H
authors.initials: WH
authors.lastname: Theodore
authors.forename: K Michael
authors.initials: KM
authors.lastname: Gibson
authors.forename: Katherine
authors.initials: K
authors.lastname: Forester
authors.forename: Susan E
authors.initials: SE
authors.lastname: Combs
authors.forename: Daniel
authors.initials: D
authors.lastname: Lewin
authors.forename: Irene
authors.initials: I
authors.lastname: Dustin
authors.forename: Patricia
authors.initials: P
authors.lastname: Reeves-Tyer
authors.forename: Cornelis
authors.initials: C
authors.lastname: Jakobs
authors.forename: Susumu
authors.initials: S
authors.lastname: Sato
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D006970:Disorders of Excessive Somnolence / Q000175:diagnosis / Q000201:enzymology*; D005260:Female; D006801:Humans; D008297:Male; D017286:Polysomnography / Q000379:methods* / Q000706:statistics & numerical data*; D012892:Sleep Deprivation / Q000175:diagnosis / Q000201:enzymology*; D050644:Succinate-Semialdehyde Dehydrogenase / Q000172:deficiency*; D055815:Young Adult
chemical_list: D050644:Succinate-Semialdehyde Dehydrogenase