Biomaterial Database

Polysomnographic abnormalities in succinic semialdehyde dehydrogenase (SSADH) deficiency. 2009

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

Neuroscience Center, CNMC, George Washington University School of Medicine, Washington, DC, USA. ppearl@cnmc.org

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.

UI	MeSH Term	Description	Entries
D006970	Disorders of Excessive Somnolence	Disorders characterized by hypersomnolence during normal waking hours that may impair cognitive functioning. Subtypes include primary hypersomnia disorders (e.g., IDIOPATHIC HYPERSOMNOLENCE; NARCOLEPSY; and KLEINE-LEVIN SYNDROME) and secondary hypersomnia disorders where excessive somnolence can be attributed to a known cause (e.g., drug affect, MENTAL DISORDERS, and SLEEP APNEA SYNDROME). (From J Neurol Sci 1998 Jan 8;153(2):192-202; Thorpy, Principles and Practice of Sleep Medicine, 2nd ed, p320)	Daytime Sleepiness,Daytime Somnolence,Excessive Daytime Sleepiness,Hypersomnia,Hypersomnolence,Primary Hypersomnia Disorders,Secondary Hypersomnia Disorders,DOES (Disorders of Excessive Somnolence),Excessive Somnolence Disorders,Hypersomnia, Recurrent,Hypersomnolence Disorders,Hypersomnolence Disorders, Primary,Hypersomnolence Disorders, Secondary,Primary Hypersomnolence Disorders,Secondary Hypersomnolence Disorders,DOESs (Disorders of Excessive Somnolence),Daytime Sleepiness, Excessive,Daytime Sleepinesses,Daytime Somnolences,Excessive Daytime Sleepinesses,Excessive Somnolence Disorder,Hypersomnia Disorder, Primary,Hypersomnia Disorder, Secondary,Hypersomnias,Hypersomnolence Disorder,Hypersomnolence Disorder, Primary,Hypersomnolence Disorder, Secondary,Primary Hypersomnia Disorder,Primary Hypersomnolence Disorder,Recurrent Hypersomnia,Recurrent Hypersomnias,Secondary Hypersomnia Disorder,Secondary Hypersomnolence Disorder,Sleepiness, Daytime,Sleepiness, Excessive Daytime,Somnolence Disorder, Excessive,Somnolence, Daytime
D008297	Male		Males
D002648	Child	A person 6 to 12 years of age. An individual 2 to 5 years old is CHILD, PRESCHOOL.	Children
D005260	Female		Females
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000293	Adolescent	A person 13 to 18 years of age.	Adolescence,Youth,Adolescents,Adolescents, Female,Adolescents, Male,Teenagers,Teens,Adolescent, Female,Adolescent, Male,Female Adolescent,Female Adolescents,Male Adolescent,Male Adolescents,Teen,Teenager,Youths
D000328	Adult	A person having attained full growth or maturity. Adults are of 19 through 44 years of age. For a person between 19 and 24 years of age, YOUNG ADULT is available.	Adults
D012892	Sleep Deprivation	The state of being deprived of sleep under experimental conditions, due to life events, or from a wide variety of pathophysiologic causes such as medication effect, chronic illness, psychiatric illness, or sleep disorder.	Inadequate Sleep,Insufficient Sleep,Insufficient Sleep Syndrome,REM Sleep Deprivation,Sleep Debt,Sleep Fragmentation,Sleep Insufficiency,Deprivation, REM Sleep,Deprivation, Sleep,Fragmentation, Sleep,Insufficiencies, Sleep,Insufficiency, Sleep,Insufficient Sleep Syndromes,Sleep Deprivation, REM,Sleep Insufficiencies,Sleep, Inadequate,Sleep, Insufficient,Syndrome, Insufficient Sleep
D017286	Polysomnography	Simultaneous and continuous monitoring of several parameters during sleep to study normal and abnormal sleep. The study includes monitoring of brain waves, to assess sleep stages, and other physiological variables such as breathing, eye movements, and blood oxygen levels which exhibit a disrupted pattern with sleep disturbances.	Monitoring, Sleep,Somnography,Polysomnographies,Sleep Monitoring,Somnographies
D050644	Succinate-Semialdehyde Dehydrogenase	An enzyme that plays a role in the GLUTAMATE and butanoate metabolism pathways by catalyzing the oxidation of succinate semialdehyde to SUCCINATE using NAD+ as a coenzyme. Deficiency of this enzyme, causes 4-hydroxybutyricaciduria, a rare inborn error in the metabolism of the neurotransmitter 4-aminobutyric acid (GABA).	NAD(+)-Dependent Succinic Semialdehyde Dehydrogenase,Succinate Semialdehyde Dehydrogenase,Succinic Semialdehyde Dehydrogenase,Dehydrogenase, Succinate Semialdehyde,Dehydrogenase, Succinate-Semialdehyde,Dehydrogenase, Succinic Semialdehyde,Semialdehyde Dehydrogenase, Succinate,Semialdehyde Dehydrogenase, Succinic