The clinical phenotype of succinic semialdehyde dehydrogenase deficiency (4-hydroxybutyric aciduria): case reports of 23 new patients


Gibson, K. Michael, Christensen, Ernst, Jakobs, Cornelis, Fowler, Brian, Clarke, Michael A., Hammersen, Gerhard, Raab, Klaus, Kobori, Joyce, Moosa, Allie, Vollmer, Brigitte, Rossier, Eva, Iafolla, A. Kimberly, Matern, Dietrich, Brouwer, Oebele F., Finkelstein, Janice, Aksu, Fuat, Weber, Hans-Peter, Bakkeren, Jan A.J.M., Gabreels, Fons J.M., Bluestone, Daniel, Barron, Todd F., Beauvais, Pierre, Rabier, Daniel, Santos, Cesar, Umansky, Richard and Lehnert, Willy (1997) The clinical phenotype of succinic semialdehyde dehydrogenase deficiency (4-hydroxybutyric aciduria): case reports of 23 new patients. Pediatrics, 99, (4), 567-574. (doi:10.1016/j.jbmt.2009.07.003). (PMID:9093300).

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Description/Abstract

Our data imply that two groups of patients with SSADH deficiency exist, differentiated by the course of early development. Our recommendation would be that accurate, quantitative organic acid analysis in an appropriate specialist laboratory be requested for any patients presenting with two or more features of mental, motor, or language delay and hypotonia of unknown cause. Such analyses are the only definitive way to diagnose SSADH deficiency; the diagnosis can be confirmed by determination of enzyme activity in white cells from whole blood. We think that increased use of organic acid determination will lead to increased diagnosis of SSADH deficiency and a more accurate representation of disease frequency. As additional patients are identified, we should have a better understanding of both the metabolic and clinical profiles of SSADH deficiency.

Item Type: Article
ISSNs: 0031-4005 (print)
1098-4275 (electronic)
Keywords: mental retardation, succinic semialdehyde dehydrogenase deficiency, 4-hydroxybutyric aciduria, hypotonia, ataxia
Subjects: R Medicine > RC Internal medicine > RC0321 Neuroscience. Biological psychiatry. Neuropsychiatry
R Medicine > RJ Pediatrics
Divisions: University Structure - Pre August 2011 > School of Medicine > Clinical Neurosciences
ePrint ID: 189527
Date Deposited: 02 Jun 2011 13:11
Last Modified: 27 Mar 2014 19:42
URI: http://eprints.soton.ac.uk/id/eprint/189527

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