Exciting research progress being made for SSADH! https://lnkd.in/eJmECTAZ
About us
The SSADH Association is a voluntary, not-for-profit, 501(c) (3) organization dedicated to helping children and families affected by an ultra-rare neurometabolic disorder known as Succinic Semialdehyde Dehydrogenase Deficiency or SSADH. The SSADH Association is committed to those affected by this neurotransmitter disease through education, advocacy, and research. Succinic semialdehyde dehydrogenase deficiency (SSADH) is an ultra-rare neurometabolic disorder characterized by a lack of one of two enzymes involved in the breakdown of GABA, the major inhibitory neurotransmitter in the brain. GABA controls the movements of humans, and when it is imbalanced, major neurological abnormalities occur. With SSADH, neurotransmitters in neurons are blocked from signaling one another correctly. Due to the enzyme deficiency in SSADH patients, an unusual compound accumulates in the body, namely 4-hydroxybutyric acid or gamma-hydroxybutyric acid (GHB). The GHB accumulation may interfere with the patient’s ability to walk, speak, concentrate and process information. Since the disorder was originally described in 1981 by Cornelis Jakobs, PhD. over 200 cases of SSADH have been identified. However, due to the variability and nonspecific nature of associated symptoms, experts suggest that this disorder may be significantly underdiagnosed and/or misdiagnosed. As a result, it is difficult to determine the true frequency of SSADH in the general population.
- Website
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www.ssadh.net
External link for SSADH Association
- Industry
- Non-profit Organizations
- Company size
- 2-10 employees
- Headquarters
- Delafield , Wi
- Type
- Nonprofit
- Founded
- 2012
Locations
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Primary
Get directions
P.O Box 180622
Delafield , Wi 53018, US
Updates
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SSADH Association reposted this
Chief, Metabolic Disorders Division, Children’s Hospital of Orange County, Clinical Geneticist and Biochemical Geneticist | Executive MBA 2026 Duke Fuqua School of Business | Forté Fellow | Health Sector Management
We are delighted to announce that the upcoming Boston Children's Hospital #Metabolism #GrandRounds will host Phillip Pearl, MD, Director of #Epilepsy and Clinical #Neurophysiology, Boston Children's Hospital; William G. Lennox Chair and Professor of Neurology, Harvard Medical School, on Tuesday November 28th at noon EST via Zoom, titled: “Results of the #SSADH #Deficiency #NaturalHistory Study” https://lnkd.in/ewm-xWDE Password: Metspeaker Phillip L. Pearl, M.D. is Director of Epilepsy and Clinical Neurophysiology at Boston Children’s Hospital and William G. Lennox Chair and Professor of #Neurology at Harvard Medical School. Dr. Pearl, originally from Baltimore, attended Johns Hopkins University and Peabody Conservatory of Music, and University of Maryland School of Medicine. He took his residency at Baylor College of Medicine in Houston and fellowship at Boston Children’s Hospital. He was Division Chief of Neurology at Children’s National Medical Center and Professor of Neurology, #Pediatrics, and Music at the George Washington University School of Medicine until returning to Boston in January 2014. Dr. Pearl also is a faculty member of the Music and Health Institute at the Berklee College of Music in Boston. His major research interest is #inherited #metabolic #epilepsies with specific focus on #disorders of #GABA #metabolism. Dr. Pearl is Past President of the Professors of Child Neurology and the Child Neurology Society. He has authored over 240 peer-reviewed manuscripts and over 150 chapters and reviews, written or edited five books including one translated into Chinese and another into Japanese, and produced two musical CDs, the first of which had its debut at Georgetown’s famous Blues Alley and supports the care of indigent children in the capital city, Washington, D.C. This educational activity is sponsored by Takeda. The Johns Hopkins University School of Medicine The George Washington University School of Medicine and Health Sciences Berklee College of Music SSADH Association SSADH RESEARCH ALLIANCE INC SSADH ASSOCIATION INC
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