title: Pre- and postnatal diagnosis of succinic semialdehyde dehydrogenase deficiency using enzyme and metabolite assays.
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.,
authors.affiliation: Kimberly H. Courtwright and Joseph W. Summers Metabolic Disease Center, Baylor University Medical Center, Dallas, Texas.
authors.forename: K M
authors.initials: KM
authors.lastname: Gibson
authors.forename: C
authors.initials: C
authors.lastname: Baumann
authors.forename: H
authors.initials: H
authors.lastname: Ogier
authors.forename: E
authors.initials: E
authors.lastname: Rossier
authors.forename: B
authors.initials: B
authors.lastname: Vollmer
authors.forename: C
authors.initials: C
authors.lastname: Jakobs
mesh_terms: D000445:Aldehyde Oxidoreductases / Q000172:deficiency*; D000653:Amniotic Fluid / Q000737:chemistry; D005260:Female; D006801:Humans; D015151:Immunoblotting; D008661:Metabolism, Inborn Errors / Q000175:diagnosis*; D011247:Pregnancy; D011296:Prenatal Diagnosis; D012978:Sodium Oxybate / Q000032:analysis; D050644:Succinate-Semialdehyde Dehydrogenase
chemical_list: D012978:Sodium Oxybate; D000445:Aldehyde Oxidoreductases; C493643:ALDH5A1 protein, human; D050644:Succinate-Semialdehyde Dehydrogenase