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

K M Gibson; C Baumann; H Ogier; E Rossier; B Vollmer; C Jakobs

doi:10.1007/BF00712016

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

J Inherit Metab Dis. 1994;17(6):732-7. doi: 10.1007/BF00712016.

Authors

K M Gibson¹, C Baumann, H Ogier, E Rossier, B Vollmer, C Jakobs

Affiliation

¹ Kimberly H. Courtwright and Joseph W. Summers Metabolic Disease Center, Baylor University Medical Center, Dallas, Texas.

PMID: 7707697
DOI: 10.1007/BF00712016

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.,

MeSH terms

Aldehyde Oxidoreductases / deficiency*
Amniotic Fluid / chemistry
Female
Humans
Immunoblotting
Metabolism, Inborn Errors / diagnosis*
Pregnancy
Prenatal Diagnosis*
Sodium Oxybate / analysis
Succinate-Semialdehyde Dehydrogenase

Substances

Sodium Oxybate
Aldehyde Oxidoreductases
ALDH5A1 protein, human
Succinate-Semialdehyde Dehydrogenase