Polysomnographic abnormalities in succinic semialdehyde dehydrogenase (SSADH) deficiency.
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.
Pearl
Phillip L
PL
Neuroscience Center, CNMC, George Washington University School of Medicine, Washington, DC, USA. ppearl@cnmc.org
Shamim
Sadat
S
Theodore
William H
WH
Gibson
K Michael
KM
Forester
Katherine
K
Combs
Susan E
SE
Lewin
Daniel
D
Dustin
Irene
I
Reeves-Tyer
Patricia
P
Jakobs
Cornelis
C
Sato
Susumu
S
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
D050644:Succinate-Semialdehyde Dehydrogenase