PRENATAL AND POSTNATAL DIAGNOSIS OF SUCCINIC SEMIALDEHYDE DEHYDROGENASE-DEFICIENCY USING ENZYME AND METABOLITE ASSAYS

被引：18

作者：

GIBSON, KM

BAUMANN, C

OGIER, H

ROSSIER, E

VOLLMER, B

JAKOBS, C

机构：

[1] BAYLOR UNIV,MED CTR,KIMBERLY H COURTWRIGHT & JOSEPH W SUMMERS METAB D,DALLAS,TX 75226

[2] HOP ROBERT DEBRE,DEPT PEDIAT,F-75935 PARIS 19,FRANCE

[3] UNIV TUBINGEN,INST ANTHROPOL & HUMAN GENET,DEPT CLIN GENET,W-7400 TUBINGEN,GERMANY

[4] UNIV TUBINGEN,CHILDRENS HOSP,DEPT NEUROPEDIAT,W-7400 TUBINGEN,GERMANY

[5] FREE UNIV AMSTERDAM HOSP,DEPT PEDIAT,1081 HV AMSTERDAM,NETHERLANDS

来源：

JOURNAL OF INHERITED METABOLIC DISEASE | 1994年 / 17卷 / 06期

关键词：

D O I：

10.1007/BF00712016

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

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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收藏

页码：732 / 737

页数：6

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