Visual evoked potentials in succinate semialdehyde dehydrogenase (SSADH) deficiency
نویسندگان
چکیده
منابع مشابه
Proton MR spectroscopy in succinic semialdehyde dehydrogenase deficiency.
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 i...
متن کاملSIGNIFICANT CHANGES IN THE ACTIVITY OF GABATRANSAMINASE AND SUCCINATE SEMIALDEHYDE DEHYDROGENASE OF MOUSE HYPOTHALAMUS FOLLOWING PERIPHERAL INJECTION OF CHOLECYSTOKININ-8 AND/OR CAERULEIN
The activities of 4-aminobutyric-2-oxoglutaric acid transaminase (GABA-T) and succinate semialdehyde dehydrogenase (SSADH) were determined in mouse hypothalamus after peripheral injections of cholecystokinin-8 (CCK-X)and/or caerulein (CLN). GABA transaminase activity was measured utilizing endogenous succinate semialdellyde dehydrogenase to convert the product of GAB A-T, succinate semiald...
متن کاملVigabatrin improves paroxysmal dystonia in succinic semialdehyde dehydrogenase deficiency.
2007;68;1320-1321 Neurology C. Liberanome and C. Dionisi-Vici V. Leuzzi, M. L. Di Sabato, F. Deodato, C. Rizzo, S. Boenzi, C. Carducci, P. Malaspina, deficiency Vigabatrin improves paroxysmal dystonia in succinic semialdehyde dehydrogenase This information is current as of April 26, 2007 http://www.neurology.org/cgi/content/full/68/16/1320 located on the World Wide Web at: The online version of...
متن کاملTherapeutic efficacy of magnesium valproate in succinic semialdehyde dehydrogenase deficiency.
Succinic semialdehyde dehydrogenase deficiency (SSADHD), a disorder of γ-aminobutyric acid (GABA) metabolism, manifests typically as a nonprogressive neurodevelopmental disorder with cognitive deficiency, neuropsychiatric morbidity and epilepsy. Therapy targets symptomatic seizures and neurobehavioral disturbances. We report an adolescent female with SSADHD whose unresponsiveness to a broad spe...
متن کاملHead bobbing due to succinic semialdehyde dehydrogenase deficiency.
A 9-month-old boy had a short history of “yes-yes” head bobbing (video on the Neurology Web site at www. neurology.org). Mild global delay prompted investigation. Imaging (figure, A–C), biochemical, and molecular findings (table e-1) were consistent with succinic semialdehyde dehydrogenase (SSADH) deficiency. SSADH deficiency, a -aminobutyric acid degradation disorder, may be associated with mo...
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ژورنال
عنوان ژورنال: Journal of Inherited Metabolic Disease
سال: 2009
ISSN: 0141-8955,1573-2665
DOI: 10.1007/s10545-009-1154-4