NDLI: Thirty years beyond discovery—Clinical trials in succinic semialdehyde dehydrogenase deficiency, a disorder of GABA metabolism

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Thirty years beyond discovery—Clinical trials in succinic semialdehyde dehydrogenase deficiency, a disorder of GABA metabolism

Content Provider	Scilit
Author	Vogel, Kara R. Pearl, Phillip L. Theodore, William H. McCarter, Robert C. Jakobs, Cornelis Gibson, K. Michael
Copyright Year	2012
Description	Journal: Journal of Inherited Metabolic Disease This review summarizes a presentation made at the retirement Symposium of Prof. Dr. Cornelis Jakobs in November of 2011, highlighting the progress toward clinical trials in succinic semialdehyde dehydrogenase (SSADH) deficiency, a disorder first recognized in 1981. Active and potential clinical interventions, including vigabatrin, L‐cycloserine, the GHB receptor antagonist NCS‐382, and the ketogenic diet, are discussed. Several biomarkers to gauge clinical efficacy have been identified, including cerebrospinal fluid metabolites, neuropsychiatric testing, MRI, EEG, and measures of GABAergic function including (11 C)flumazenil positron emission tomography (PET) and transcranial magnetic stimulation (TMS). Thirty years after its discovery, encompassing extensive studies in both patients and the corresponding murine model, we are now running an open‐label trial of taurine intervention, and are poised to undertake a phase II trial of the $GABA_{B}$ receptor antagonist SGS742.
Related Links	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4349389/pdf
Ending Page	410
Page Count	10
Starting Page	401
ISSN	01418956
e-ISSN	15732665
DOI	10.1007/s10545-012-9499-5
Journal	Journal of Inherited Metabolic Disease
Issue Number	3
Volume Number	36
Language	English
Publisher	Wiley-Blackwell
Publisher Date	2012-06-28
Access Restriction	Open
Subject Keyword	Journal: Journal of Inherited Metabolic Disease Thirty Years After Its Discovery
Content Type	Text
Resource Type	Article

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Thirty Years Beyond Discovery—Clinical Trials in Succinic Semialdehyde Dehydrogenase Deficiency, a Disorder of GABA Metabolism

Correlation of blood biomarkers with age informs pathomechanisms in succinic semialdehyde dehydrogenase deficiency (SSADHD), a disorder of GABA metabolism

mTOR inhibitors rescue premature lethality and attenuate dysregulation of GABAergic/glutamatergic transcription in murine succinate semialdehyde dehydrogenase deficiency (SSADHD), a disorder of GABA metabolism

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Thirty years beyond discovery—Clinical trials in succinic semialdehyde dehydrogenase deficiency, a disorder of GABA metabolism

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Thirty Years Beyond Discovery—Clinical Trials in Succinic Semialdehyde Dehydrogenase Deficiency, a Disorder of GABA Metabolism

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