4-Hydroxybutyric acid and the clinical phenotype of succinic semialdehyde dehydrogenase deficiency, an inborn error of GABA metabolism

Neuropediatrics
K M GibsonC Jakobs

Abstract

SSADH deficiency, a rare inborn error of human metabolism, disrupts the normal metabolism of the inhibitory neurotransmitter GABA. In response to the defect, physiologic fluids from patients accumulate GHB, a compound with numerous neuromodulatory properties. Clinical and bio-chemical findings in patients are contrasted with existing neuropharmacologic data on GHB in animals and men. We conclude that GHB contributes to the pathogenesis of SSADH deficiency; whether this effect is mediated by GHB, by GABA following metabolic interconversion, or via synergistic mechanisms by both compounds, remains to be determined. An animal model of SSADH deficiency should further define the role of GHB in the pathogenesis of SSADH deficiency, and provide a useful vehicle for the evaluation of new therapeutic intervention.

Citations

Jan 1, 1995·Journal of Inherited Metabolic Disease·K M GibsonB Vollmer
Feb 3, 2009·Neurogenetics·Michael C Hanna, Craig Blackstone
May 12, 2004·Clinical Neurophysiology : Official Journal of the International Federation of Clinical Neurophysiology·A DerventC Yalcinkaya
Mar 9, 2004·Trends in Plant Science·Nicolas Bouché, Hillel Fromm
Dec 26, 2012·The Journal of Biological Chemistry·Changhong LiAli Naji
Feb 22, 2011·Pharmacogenomics·Markus R Meyer, Hans H Maurer
Mar 15, 2001·Brain & Development·Y IshiguroS Yamaguchi
Feb 9, 2005·Applied Microbiology and Biotechnology·Guo-Qiang Chen, Qiong Wu
Jul 20, 2002·Journal of Chromatography. B, Analytical Technologies in the Biomedical and Life Sciences·Toshihiro ShinkaTomiko Kuhara
Aug 2, 2003·Annals of Neurology·Maneesh GuptaK Michael Gibson
Aug 2, 2003·Annals of Neurology·Phillip L PearlK Michael Gibson
Jul 9, 2004·Drug Metabolism Reviews·Vasilis VasiliouTia Estey
Oct 25, 2008·Drug Metabolism Reviews·Oleg A BarskiAruni Bhatnagar
Mar 27, 2007·Annals of Human Biology·Ofelia LeoneAndrea Novelletto
Jan 18, 2016·Forensic Science International : Synergy·Lena-Maria MehlingCornelius Hess
Mar 5, 2003·Journal of Biochemical and Molecular Toxicology·Norman E Sládek
Jan 8, 2016·Medicinal Research Reviews·Michel MaitreAyikoe G Mensah-Nyagan
Dec 19, 2009·Anales de pediatría : publicación oficial de la Asociación Española de Pediatría (A.E.P.)·G Iglesias EscaleraC Pérez-Cerdá
Jan 12, 2010·Biochemical and Biophysical Research Communications·Jae-Woo AhnKyung-Jin Kim
Jun 17, 2014·ACS Chemical Biology·Sushabhan SadhukhanGregory P Tochtrop
Mar 12, 2016·Neurología : publicación oficial de la Sociedad Española de Neurología·G Manrique MartínM C Miranda Herrero
Jan 18, 2008·Experimental Neurology·Kirk NylenO Carter Snead
Jul 23, 2003·Journal of Neurochemistry·Tonya C MurphyMatthew J Picklo
Mar 21, 2009·The EMBO Journal·Yeon-Gil KimKyung-Jin Kim
Sep 1, 2004·Sleep Medicine Reviews·William C HoughtonMichael Thorpy
May 2, 2006·Brain Research·Andrea BuzziO Carter Snead
Mar 6, 2003·Neurologic Clinics·Kathryn J Swoboda, Keith Hyland
Nov 26, 2013·Biochemical Pharmacology·Tina BayPetrine Wellendorph
Mar 21, 2012·The Biochemical Journal·Guo-Fang ZhangHenri Brunengraber
Jan 16, 2003·Biochimica Et Biophysica Acta·Ethan Nguyen, Matthew J Picklo

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