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NEUROLOGY 2004;62:1016-1018
© 2004 American Academy of Neurology
Brief Communications

Proton MR spectroscopy in succinic semialdehyde dehydrogenase deficiency

T. Ethofer, MD, U. Seeger, PhD, U. Klose, PhD, M. Erb, PhD, B. Kardatzki, PhD, E. Kraft, MD, G. B. Landwehrmeyer, MD, W. Grodd, PhD and A. Storch, MD

From the Section on Experimental MR of the CNS (Drs. Ethofer, Seeger, Klose, Erb, Kardatzki, and Grodd), Department of Neuroradiology, University of Tübingen, and Department of Neurology (Drs. Ethofer, Kraft, Landwehrmeyer, and Storch), University of Ulm, Germany.

Address correspondence and reprint requests to Dr. A. Storch, Department of Neurology, University of Ulm, Oberer Eselsberg 45, 89081 Ulm, Germany; e-mail: alexander.storch{at}medizin.uni-ulm.de

Succinic semialdehyde dehydrogenase (SSADH) deficiency is a rare hereditary disorder of the CNS catabolism of {gamma}-aminobutyric acid (GABA), leading to accumulation of the metabolite 4-hydroxybutyrate (GHB). Here the authors report on 1.5 and 3.0 T proton MR spectroscopy in a patient with SSADH deficiency. A characteristic pattern with clearly elevated GABA levels and traces of GHB was found in both the white and the gray matter of the brain. In vivo spectroscopy may be useful for diagnosis and monitoring SSADH deficiency.

Received August 14, 2003. Accepted in final form November 10, 2003.




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