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Pre- and postnatal diagnosis of succinic semialdehyde dehydrogenase deficiency using enzyme and metabolite assays

Gibson, K.M., Baumann, C., Ogier, H., Rossier, E. 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), pp. 732-737. (PMID:7707697).

Record type: Article

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.,

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Published date: 1994

Identifiers

Local EPrints ID: 189537
URI: http://eprints.soton.ac.uk/id/eprint/189537
ISSN: 0141-8955
PURE UUID: 177f3789-802f-4925-bed1-5970ba828cfd

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Date deposited: 02 Jun 2011 15:24
Last modified: 21 Aug 2017 16:32

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Contributors

Author: K.M. Gibson
Author: C. Baumann
Author: H. Ogier
Author: E. Rossier
Author: C. Jakobs

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