| Proton MR spectroscopy in succinic semialdehyde dehydrogenase deficiency. | |
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MedLine Citation:
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PMID: 15037717 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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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. |
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Authors:
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T Ethofer; U Seeger; U Klose; M Erb; B Kardatzki; E Kraft; G B Landwehrmeyer; W Grodd; A Storch |
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Publication Detail:
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Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't |
Journal Detail:
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Title: Neurology Volume: 62 ISSN: 1526-632X ISO Abbreviation: Neurology Publication Date: 2004 Mar |
Date Detail:
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Created Date: 2004-03-23 Completed Date: 2004-07-19 Revised Date: 2006-11-15 |
Medline Journal Info:
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Nlm Unique ID: 0401060 Medline TA: Neurology Country: United States |
Other Details:
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Languages: eng Pagination: 1016-8 Citation Subset: AIM; IM |
Affiliation:
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Section on Experimental MR of the CNS, Department of Neuroradiology, University of Tübingen, Germany. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Adult Aldehyde Oxidoreductases / deficiency*, genetics, metabolism Amino Acid Metabolism, Inborn Errors / diagnosis*, enzymology*, genetics Brain / enzymology, metabolism Genes, Recessive Glutamic Acid / metabolism Glutamine / metabolism Humans Hydroxybutyrates / metabolism Magnetic Resonance Spectroscopy / methods* Male Movement Disorders / enzymology, genetics Predictive Value of Tests Protons Reference Values Seizures / enzymology, genetics Speech Disorders / enzymology, genetics Succinate-Semialdehyde Dehydrogenase gamma-Aminobutyric Acid / metabolism* |
| Chemical | |
Reg. No./Substance:
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0/Hydroxybutyrates; 0/Protons; 56-12-2/gamma-Aminobutyric Acid; 56-85-9/Glutamine; 56-86-0/Glutamic Acid; 591-81-1/4-hydroxybutyric acid; EC 1.2.-/Aldehyde Oxidoreductases; EC 1.2.1.24/ALDH5A1 protein, human; EC 1.2.1.24/Succinate-Semialdehyde Dehydrogenase |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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