Vigabatrin improves paroxysmal dystonia in succinic semialdehyde dehydrogenase deficiency.
نویسندگان
چکیده
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 this article, along with updated information and services, is Print ISSN: 0028-3878. Online ISSN: 1526-632X. published continuously since 1951. Copyright © 2007 by AAN Enterprises, Inc. All rights reserved. Neurology is the official journal of AAN Enterprises, Inc. A bi-monthly publication, it has been
منابع مشابه
Head bobbing due to succinic semialdehyde dehydrogenase deficiency.
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Only for three of the knowndefects in themetabolismof the amino acidsGABA, glycine, serine, and proline has a more-or-less efficient treatment been reported: the GABA catabolic defect, succinic semialdehyde dehydrogenase deficiency (vigabatrin, causing substrate depletion by inhibition of GABA transaminase); the glycine catabolic defect, nonketotic hyperglycinemia (diet combined with benzoate a...
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Succinic semialdehyde dehydrogenase enzyme (SSADH) deficiency is a rare autosomal disorder involving the catabolism of the neurotransmitter γ-amino butyric acid (GABA). In the absence of SSADH, GABA is converted to 4-hydroxybutyrate. 4-hydroxybutyrate, which is regarded as a biochemical hallmark, accumulating in serum, urine and cerebrospinal fluid. We reported three brothers whose parents were...
متن کاملTherapeutic intervention in mice deficient for succinate semialdehyde dehydrogenase (gamma-hydroxybutyric aciduria).
Therapeutic intervention for human succinic semialdehyde dehydrogenase (SSADH) deficiency (gamma-hydroxybutyric aciduria) has been limited to vigabatrin (VGB). Pharmacologically, VGB should be highly effective due to 4-aminobutyrate-transaminase (GABA-transaminase) inhibition, lowering succinic semialdehyde and, thereby, gamma-hydroxybutyric acid (GHB) levels. Unfortunately, clinical efficacy h...
متن کاملThe clinical phenotype of succinic semialdehyde dehydrogenase deficiency (4-hydroxybutyric aciduria): case reports of 23 new patients.
OBJECTIVES To further define the clinical spectrum of the disease for pediatric and metabolic specialists, and to suggest that the general pediatrician and pediatric neurologist consider succinic semialdehyde dehydrogenase (SSADH) deficiency in the differential diagnosis of patients with (idiopathic) mental retardation and emphasize the need for accurate, quantitative organic acid analysis in s...
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ورودعنوان ژورنال:
- Neurology
دوره 68 16 شماره
صفحات -
تاریخ انتشار 2007