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. 2009 Dec;32(12):1645-8.
doi: 10.1093/sleep/32.12.1645.

Polysomnographic abnormalities in succinic semialdehyde dehydrogenase (SSADH) deficiency

Phillip L Pearl  1 , Sadat Shamim, William H Theodore, K Michael Gibson, Katherine Forester, Susan E Combs, Daniel Lewin, Irene Dustin, Patricia Reeves-Tyer, Cornelis Jakobs, Susumu Sato
Affiliations

Polysomnographic abnormalities in succinic semialdehyde dehydrogenase (SSADH) deficiency

Phillip L Pearl et al. Sleep. 2009 Dec.

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.

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Figure 1
Figure 1
Biochemical Pathway of GABA Metabolism.
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References

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