Pre- and postnatal diagnosis of succinic semialdehyde dehydrogenase deficiency using enzyme and metabolite assays
Gibson, K.M., Baumann, C., Ogier, H., Rossier, E., Vollmer, B. and Jakobs, C. (1994) Pre- and postnatal diagnosis of succinic semialdehyde dehydrogenase deficiency using enzyme and metabolite assays. Journal of Inherited Metabolic Disease, 17, (6), 732-737. (PMID:7707697).
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Description/Abstract
We report our cumulative experience for the prenatal diagnosis of succinic semialdehyde dehydrogenase (SSADH) deficiency in seven 'at-risk' pregnancies from four unrelated families. Prenatal diagnosis was performed by determination of 4-hydroxybutyric acid (4-HBA) concentration in amniotic fluid using isotope-dilution gas chromatography-mass spectrometry in conjunction with assay of SSADH activity in biopsied chorionic villus and/or cultured amniocytes. In three of four pregnancies predicted as affected, confirmation was obtained by demonstration of deficient SSADH activity in fetal tissues. Our results suggest that determination of 4-HBA concentration in amniotic fluid combined with enzyme determination in cultured or biopsied tissue represents a reliable method for the prenatal diagnosis of SSADH deficiency.,
| Item Type: | Article |
|---|---|
| ISSNs: | 0141-8955 (print) 1573-2665 (electronic) |
| Subjects: | R Medicine > RB Pathology R Medicine > RG Gynecology and obstetrics |
| Divisions: | University Structure - Pre August 2011 > School of Medicine > Clinical Neurosciences |
| Item ID: | 189537 |
| Date Deposited: | 02 Jun 2011 15:24 |
| Last Modified: | 02 Mar 2012 12:56 |
| Contributors: | Gibson, K.M. (Author) Baumann, C. (Author) Ogier, H. (Author) Rossier, E. (Author) Vollmer, B. (Author) Jakobs, C. (Author) |
| Date: | 1994 |
| Status: | Published |
| URI: | http://eprints.soton.ac.uk/id/eprint/189537 |
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