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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, 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), pp. 567-574. (doi:10.1542/peds.99.4.567). (PMID:9093300).

Record type: Article


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.

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Published date: April 1997
Keywords: mental retardation, succinic semialdehyde dehydrogenase deficiency, 4-hydroxybutyric aciduria, hypotonia, ataxia
Organisations: Clinical Neurosciences


Local EPrints ID: 189527
ISSN: 0031-4005
PURE UUID: 647d0120-4469-4617-9e26-e38476165349

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Date deposited: 02 Jun 2011 13:11
Last modified: 21 Aug 2017 16:32

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Author: K. Michael Gibson
Author: Ernst Christensen
Author: Cornelis Jakobs
Author: Brian Fowler
Author: Michael A. Clarke
Author: Gerhard Hammersen
Author: Klaus Raab
Author: Joyce Kobori
Author: Allie Moosa
Author: Eva Rossier
Author: A. Kimberly Iafolla
Author: Dietrich Matern
Author: Oebele F. Brouwer
Author: Janice Finkelstein
Author: Fuat Aksu
Author: Hans-Peter Weber
Author: Jan A.J.M. Bakkeren
Author: Fons J.M. Gabreels
Author: Daniel Bluestone
Author: Todd F. Barron
Author: Pierre Beauvais
Author: Daniel Rabier
Author: Cesar Santos
Author: Richard Umansky
Author: Willy Lehnert

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