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

作者信息

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

机构信息

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

出版信息

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

DOI:10.1007/BF00712016
PMID:7707697
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.,

摘要

相似文献

1
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.
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Succinic semialdehyde dehydrogenase deficiency: a metabolic and genomic approach to diagnosis.琥珀酸半醛脱氢酶缺乏症：一种用于诊断的代谢和基因组学方法。
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Understanding the Molecular Mechanisms of Succinic Semialdehyde Dehydrogenase Deficiency (SSADHD): Towards the Development of SSADH-Targeted Medicine.解析琥珀酸半醛脱氢酶缺乏症（SSADHD）的分子机制：开发针对 SSADH 的药物。
Int J Mol Sci. 2022 Feb 26;23(5):2606. doi: 10.3390/ijms23052606.
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Efficacy of vigabatrin intervention in a mild phenotypic expression of succinic semialdehyde dehydrogenase deficiency.

本文引用的文献

1
Prenatal detection of succinic semialdehyde dehydrogenase deficiency (4-hydroxybutyric aciduria).琥珀酸半醛脱氢酶缺乏症（4-羟基丁酸尿症）的产前检测。
Prenat Diagn. 1993 Feb;13(2):150. doi: 10.1002/pd.1970130213.
2
Inherited disorders of GABA metabolism.γ-氨基丁酸代谢的遗传性疾病。
J Inherit Metab Dis. 1993;16(4):704-15. doi: 10.1007/BF00711902.
3
A fluorimetric assay for succinic semialdehyde dehydrogenase activity suitable for prenatal diagnosis of the enzyme deficiency.
氨己烯酸干预对琥珀酸半醛脱氢酶缺乏症轻度表型表达的疗效。
JIMD Rep. 2012;2:119-23. doi: 10.1007/8904_2011_60. Epub 2011 Sep 6.
4
Unusual enzyme findings in five patients with metabolic profiles suggestive of succinic semialdehyde dehydrogenase deficiency (4-hydroxybutyric aciduria).五名代谢谱提示琥珀酸半醛脱氢酶缺乏症（4-羟基丁酸尿症）患者的异常酶学发现。
J Inherit Metab Dis. 1998 Jun;21(3):255-61. doi: 10.1023/a:1005368106563.
5
Two exon-skipping mutations as the molecular basis of succinic semialdehyde dehydrogenase deficiency (4-hydroxybutyric aciduria).两个外显子跳跃突变作为琥珀酸半醛脱氢酶缺乏症（4-羟基丁酸尿症）的分子基础。
Am J Hum Genet. 1998 Aug;63(2):399-408. doi: 10.1086/301964.
J Inherit Metab Dis. 1993;16(6):942-9. doi: 10.1007/BF00711509.
4
Enzymatic and immunological demonstration of normal and defective succinic semialdehyde dehydrogenase activity in fetal brain, liver and kidney.胎儿脑、肝和肾中正常和缺陷型琥珀酸半醛脱氢酶活性的酶学和免疫学证明
J Inherit Metab Dis. 1993;16(3):523-6. doi: 10.1007/BF00711671.
5
4-Hydroxybutyric aciduria: clinical findings and vigabatrin therapy.
J Inherit Metab Dis. 1993;16(3):520-2. doi: 10.1007/BF00711670.
6
Activity of biotin-dependent and GABA metabolizing enzymes in chorionic villus samples: potential for 1st trimester prenatal diagnosis.
Prenat Diagn. 1986 May-Jun;6(3):187-94. doi: 10.1002/pd.1970060305.
7
Oxidation of [U-14C]succinic semialdehyde in cultured human lymphoblasts: measurement of residual succinic semialdehyde dehydrogenase activity in 11 patients with 4-hydroxybutyric aciduria.[U-14C]琥珀酸半醛在培养的人淋巴母细胞中的氧化：11例4-羟基丁酸尿症患者残余琥珀酸半醛脱氢酶活性的测定
Pediatr Res. 1988 Oct;24(4):455-60. doi: 10.1203/00006450-198810000-00007.
8
4-Hydroxybutyric aciduria: further clinical heterogeneity in a new case.
Eur J Pediatr. 1989 Dec;149(3):194-6. doi: 10.1007/BF01958280.
9
Stable isotope dilution analysis of 4-hydroxybutyric acid: an accurate method for quantification in physiological fluids and the prenatal diagnosis of 4-hydroxybutyric aciduria.4-羟基丁酸的稳定同位素稀释分析：一种用于生理体液定量及4-羟基丁酸尿症产前诊断的准确方法。
Biomed Environ Mass Spectrom. 1990 Feb;19(2):89-93. doi: 10.1002/bms.1200190207.
10
4-Hydroxybutyric aciduria: application of a fluorometric assay to the determination of succinic semialdehyde dehydrogenase activity in extracts of cultured human lymphoblasts.4-羟基丁酸尿症：荧光测定法在测定培养的人淋巴母细胞提取物中琥珀酸半醛脱氢酶活性的应用。
Clin Chim Acta. 1991 Feb 15;196(2-3):219-21. doi: 10.1016/0009-8981(91)90076-o.