The University of Southampton
University of Southampton Institutional Repository

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

The clinical phenotype of succinic semialdehyde dehydrogenase deficiency (4-hydroxybutyric aciduria): case reports of 23 new patients
The clinical phenotype of succinic semialdehyde dehydrogenase deficiency (4-hydroxybutyric aciduria): case reports of 23 new patients
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.
mental retardation, succinic semialdehyde dehydrogenase deficiency, 4-hydroxybutyric aciduria, hypotonia, ataxia
0031-4005
567-574
Gibson, K. Michael
a3c75d86-29c6-4684-97f6-ac6ccbc00ea5
Christensen, Ernst
fb57dd82-81f6-4127-aa6b-8f967fbb543b
Jakobs, Cornelis
70f7f593-8ea1-484a-98c2-ba600fcf29bb
Fowler, Brian
981e0c0e-9a68-493a-8db1-c0be510dc406
Clarke, Michael A.
544edad1-5eb0-4b19-8d39-4612abbaf261
Hammersen, Gerhard
2d65f6c3-15c4-45b0-9d74-f57787f795c4
Raab, Klaus
68e2ff73-1a91-41ff-a1f2-0ca3bb7a4ce0
Kobori, Joyce
1f43b961-e50b-42a2-ab51-cbb7caa7d294
Moosa, Allie
aba8a383-c7c6-4f1b-a384-3af93e2e582e
Vollmer, Brigitte
044f8b55-ba36-4fb2-8e7e-756ab77653ba
Rossier, Eva
38a8e088-e154-47d3-b443-04dd0a3cb206
Iafolla, A. Kimberly
234f603a-c514-4a57-9c89-8fcec26820e3
Matern, Dietrich
b5397eb0-e541-403e-ab4a-ea1f5baacd3d
Brouwer, Oebele F.
a4e7babc-fc10-46bf-b51e-047c7fb27eeb
Finkelstein, Janice
92146b2a-8939-4437-ae35-dbd49158d26b
Aksu, Fuat
64507a7b-3968-44f2-a277-2bfeae57dc13
Weber, Hans-Peter
4a325755-cdfd-448a-8527-d1f625ed1e94
Bakkeren, Jan A.J.M.
6293bcc7-b284-481c-b49f-a8cae5de0fdf
Gabreels, Fons J.M.
5b3bd413-f5bd-4a03-9671-2568f9910917
Bluestone, Daniel
51647aec-da68-4cad-9205-3f79ecbf6a1f
Barron, Todd F.
259004cc-c401-425e-b152-440c6b2bcdf4
Beauvais, Pierre
458e703e-20b8-4c96-93dd-e3457544ca9d
Rabier, Daniel
d9682775-fde6-47ae-b7e0-8a978b7c6f43
Santos, Cesar
bf94d744-eecf-48a5-aaff-5403eebd7a30
Umansky, Richard
b9da25cf-6b5e-47ac-a064-bedd5a213281
Lehnert, Willy
c1b03a8c-264c-4ff0-bcc0-88a662cab699
Gibson, K. Michael
a3c75d86-29c6-4684-97f6-ac6ccbc00ea5
Christensen, Ernst
fb57dd82-81f6-4127-aa6b-8f967fbb543b
Jakobs, Cornelis
70f7f593-8ea1-484a-98c2-ba600fcf29bb
Fowler, Brian
981e0c0e-9a68-493a-8db1-c0be510dc406
Clarke, Michael A.
544edad1-5eb0-4b19-8d39-4612abbaf261
Hammersen, Gerhard
2d65f6c3-15c4-45b0-9d74-f57787f795c4
Raab, Klaus
68e2ff73-1a91-41ff-a1f2-0ca3bb7a4ce0
Kobori, Joyce
1f43b961-e50b-42a2-ab51-cbb7caa7d294
Moosa, Allie
aba8a383-c7c6-4f1b-a384-3af93e2e582e
Vollmer, Brigitte
044f8b55-ba36-4fb2-8e7e-756ab77653ba
Rossier, Eva
38a8e088-e154-47d3-b443-04dd0a3cb206
Iafolla, A. Kimberly
234f603a-c514-4a57-9c89-8fcec26820e3
Matern, Dietrich
b5397eb0-e541-403e-ab4a-ea1f5baacd3d
Brouwer, Oebele F.
a4e7babc-fc10-46bf-b51e-047c7fb27eeb
Finkelstein, Janice
92146b2a-8939-4437-ae35-dbd49158d26b
Aksu, Fuat
64507a7b-3968-44f2-a277-2bfeae57dc13
Weber, Hans-Peter
4a325755-cdfd-448a-8527-d1f625ed1e94
Bakkeren, Jan A.J.M.
6293bcc7-b284-481c-b49f-a8cae5de0fdf
Gabreels, Fons J.M.
5b3bd413-f5bd-4a03-9671-2568f9910917
Bluestone, Daniel
51647aec-da68-4cad-9205-3f79ecbf6a1f
Barron, Todd F.
259004cc-c401-425e-b152-440c6b2bcdf4
Beauvais, Pierre
458e703e-20b8-4c96-93dd-e3457544ca9d
Rabier, Daniel
d9682775-fde6-47ae-b7e0-8a978b7c6f43
Santos, Cesar
bf94d744-eecf-48a5-aaff-5403eebd7a30
Umansky, Richard
b9da25cf-6b5e-47ac-a064-bedd5a213281
Lehnert, Willy
c1b03a8c-264c-4ff0-bcc0-88a662cab699

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:10.1542/peds.99.4.567). (PMID:9093300)

Record type: Article

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.

This record has no associated files available for download.

More information

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

Identifiers

Local EPrints ID: 189527
URI: http://eprints.soton.ac.uk/id/eprint/189527
ISSN: 0031-4005
PURE UUID: 647d0120-4469-4617-9e26-e38476165349
ORCID for Brigitte Vollmer: ORCID iD orcid.org/0000-0003-4088-5336

Catalogue record

Date deposited: 02 Jun 2011 13:11
Last modified: 15 Mar 2024 03:36

Export record

Altmetrics

Contributors

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

Download statistics

Downloads from ePrints over the past year. Other digital versions may also be available to download e.g. from the publisher's website.

View more statistics

Atom RSS 1.0 RSS 2.0

Contact ePrints Soton: eprints@soton.ac.uk

ePrints Soton supports OAI 2.0 with a base URL of http://eprints.soton.ac.uk/cgi/oai2

This repository has been built using EPrints software, developed at the University of Southampton, but available to everyone to use.

We use cookies to ensure that we give you the best experience on our website. If you continue without changing your settings, we will assume that you are happy to receive cookies on the University of Southampton website.

×