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与导管使用相关的 4-羟丁酸尿症：SSADH 缺乏症鉴定中的诊断陷阱。

4-Hydroxybutyric aciduria associated with catheter usage: a diagnostic pitfall in the identification of SSADH deficiency.

机构信息

VU University Medical Center, Department of Clinical Chemistry, Metabolic Unit, Amsterdam, The Netherlands.

出版信息

Mol Genet Metab. 2011 Feb;102(2):216-7. doi: 10.1016/j.ymgme.2010.10.001. Epub 2010 Oct 7.

DOI:10.1016/j.ymgme.2010.10.001
PMID:20965758
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3654524/
Abstract

Succinic semialdehyde dehydrogenase deficiency is a slowly progressive to static neurological disorder featuring elevated concentrations of 4-hydroxybutyric acid in body fluids. We present two patients with elevated 4-hydroxybutyric acid in urine which was later shown to be linked to catheter usage.

摘要

琥珀酸半醛脱氢酶缺乏症是一种进行性缓慢或静止性的神经障碍，其特征是体液中 4-羟丁酸浓度升高。我们介绍了两名尿液中 4-羟丁酸升高的患者，后来发现这与导管使用有关。

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本文引用的文献

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Metabolism of gamma-hydroxybutyrate to d-2-hydroxyglutarate in mammals: further evidence for d-2-hydroxyglutarate transhydrogenase.哺乳动物中γ-羟基丁酸向d-2-羟基戊二酸的代谢：d-2-羟基戊二酸转氢酶的进一步证据。
Metabolism. 2006 Mar;55(3):353-8. doi: 10.1016/j.metabol.2005.09.009.
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Determination of the GABA analogue succinic semialdehyde in urine and cerebrospinal fluid by dinitrophenylhydrazine derivatization and liquid chromatography-tandem mass spectrometry: application to SSADH deficiency.通过二硝基苯肼衍生化和液相色谱 - 串联质谱法测定尿液和脑脊液中的GABA类似物琥珀酸半醛：在琥珀酸半醛脱氢酶缺乏症中的应用
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Gamma-hydroxybutyric acid: neurobiology and toxicology of a recreational drug.γ-羟基丁酸：一种消遣性药物的神经生物学与毒理学
Toxicol Rev. 2004;23(1):3-20. doi: 10.2165/00139709-200423010-00002.
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J Inherit Metab Dis. 2004;27(2):291-3. doi: 10.1023/b:boli.0000028842.15981.6e.
5
Urinary excretion of gamma-hydroxybutyric acid in a patient with neurological abnormalities. The probability of a new inborn error of metabolism.一名患有神经异常患者的γ-羟基丁酸尿排泄情况。一种新的先天性代谢缺陷的可能性。
Clin Chim Acta. 1981 Apr 9;111(2-3):169-78. doi: 10.1016/0009-8981(81)90184-4.
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