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一种用于诊断中链酰基辅酶A脱氢酶缺乏症的新型简易筛查方法。

A new simple screening method for the diagnosis of medium chain acyl-CoA dehydrogenase deficiency.

作者信息

Bhuiyan A K, Watmough N J, Turnbull D M, Aynsley-Green A, Leonard J V, Bartlett K

出版信息

Clin Chim Acta. 1987 May 29;165(1):39-44. doi: 10.1016/0009-8981(87)90216-6.

DOI:10.1016/0009-8981(87)90216-6
PMID:3608187
Abstract

We describe a simple inexpensive method for the detection of octanoyl-carnitine in urine by reverse-phase high performance thin-layer chromatography of the p-bromophenacyl derivative. This method provides a rapid and reliable means for the diagnosis of medium-chain acyl-CoA dehydrogenase deficiency which is suitable for routine laboratory use.

摘要

我们描述了一种通过对溴苯甲酰衍生物的反相高效薄层色谱法检测尿液中辛酰肉碱的简单且廉价的方法。该方法为中链酰基辅酶A脱氢酶缺乏症的诊断提供了一种快速可靠的手段，适用于常规实验室使用。

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A new simple screening method for the diagnosis of medium chain acyl-CoA dehydrogenase deficiency.一种用于诊断中链酰基辅酶A脱氢酶缺乏症的新型简易筛查方法。
Clin Chim Acta. 1987 May 29;165(1):39-44. doi: 10.1016/0009-8981(87)90216-6.
2
High-performance liquid chromatographic separation of acylcarnitines following derivatization with 4'-bromophenacyl trifluoromethanesulfonate.用4'-溴苯甲酰三氟甲烷磺酸酯衍生化后对酰基肉碱进行高效液相色谱分离。
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3
Quantification of carnitine and specific acylcarnitines by high-performance liquid chromatography: application to normal human urine and urine from patients with methylmalonic aciduria, isovaleric acidemia or medium-chain acyl-CoA dehydrogenase deficiency.采用高效液相色谱法对肉碱及特定酰基肉碱进行定量分析：应用于正常人尿液以及甲基丙二酸尿症、异戊酸血症或中链酰基辅酶A脱氢酶缺乏症患者的尿液分析。
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Quantification of free carnitine, individual short- and medium-chain acylcarnitines, and total carnitine in plasma by high-performance liquid chromatography.采用高效液相色谱法对血浆中的游离肉碱、个体短链和中链酰基肉碱以及总肉碱进行定量分析。
Anal Biochem. 1993 Aug 1;212(2):510-8. doi: 10.1006/abio.1993.1361.
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Determination of acylcarnitines in urine of patients with inborn errors of metabolism using high-performance liquid chromatography after derivatization with 4'-bromophenacylbromide.采用4'-溴苯甲酰溴衍生化后用高效液相色谱法测定先天性代谢缺陷患者尿液中的酰基肉碱。
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Identification of new medium-chain acylcarnitines present in urine of a patient with medium-chain acyl-CoA dehydrogenase deficiency.鉴定中链酰基辅酶A脱氢酶缺乏症患者尿液中存在的新型中链酰基肉碱。
J Inherit Metab Dis. 1999 Feb;22(1):9-18. doi: 10.1023/a:1005482828392.
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Simple high-performance liquid chromatographic method for the detection of phenylpropionylglycine in urine as a diagnostic tool in inherited medium-chain acyl-coenzyme A dehydrogenase deficiency.用于检测尿液中苯丙酰甘氨酸的简单高效液相色谱法，作为遗传性中链酰基辅酶A脱氢酶缺乏症的诊断工具。
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Assay of acyl-CoA dehydrogenases in muscle and liver and identification of four new cases of medium-chain acyl-CoA dehydrogenase deficiency associated with systemic carnitine deficiency.肌肉和肝脏中酰基辅酶A脱氢酶的检测以及4例与全身性肉碱缺乏相关的新的中链酰基辅酶A脱氢酶缺乏症病例的鉴定。
Adv Neurol. 1988;48:231-7.
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Determination of medium chain acyl-CoA dehydrogenase activity in cultured skin fibroblasts using mass spectrometry.
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Octanoylglucuronide excretion in patients with a defective oxidation of medium-chain fatty acids.
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引用本文的文献

1
Mammalian mitochondrial beta-oxidation.哺乳动物线粒体β-氧化
Biochem J. 1996 Dec 1;320 ( Pt 2)(Pt 2):345-57. doi: 10.1042/bj3200345.
2
Acylcarnitines in intermediary metabolism.中间代谢中的酰基肉碱
Eur J Pediatr. 1995 Nov;154(11):871-7. doi: 10.1007/BF01957495.
3
Intramitochondrial control of the oxidation of hexadecanoate in skeletal muscle. A study of the acyl-CoA esters which accumulate during rat skeletal-muscle mitochondrial beta-oxidation of [U-14C]hexadecanoate and [U-14C]hexadecanoyl-carnitine.
骨骼肌中十六烷酸氧化的线粒体内调控。对在[U-14C]十六烷酸和[U-14C]十六烷酰肉碱的大鼠骨骼肌线粒体β氧化过程中积累的酰基辅酶A酯的研究。
Biochem J. 1993 Jan 1;289 ( Pt 1)(Pt 1):161-8. doi: 10.1042/bj2890161.
4
Malonyl coenzyme A decarboxylase deficiency.丙二酸单酰辅酶A脱羧酶缺乏症
Arch Dis Child. 1993 Oct;69(4):433-6. doi: 10.1136/adc.69.4.433.
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Skeletal muscle mitochondrial beta-oxidation. A study of the products of oxidation of [U-14C]hexadecanoate by h.p.l.c. using continuous on-line radiochemical detection.骨骼肌线粒体β-氧化。利用连续在线放射化学检测通过高效液相色谱法对[U-14C]十六烷酸氧化产物的研究。
Biochem J. 1988 Jul 15;253(2):541-7. doi: 10.1042/bj2530541.
6
Defects of fatty acid oxidation in skeletal muscle.骨骼肌中脂肪酸氧化缺陷。
J Inherit Metab Dis. 1987;10 Suppl 1:105-12. doi: 10.1007/BF01812851.
7
Identification of phenylpropionylcarnitine, a new metabolite of phenylpropionic acid, in a patient with medium chain acyl-CoA dehydrogenase deficiency.在一名中链酰基辅酶A脱氢酶缺乏症患者中鉴定出苯丙酸的一种新代谢产物苯丙酰肉碱。
J Inherit Metab Dis. 1990;13(3):325-9. doi: 10.1007/BF01799386.
8
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Eur J Pediatr. 1992 Mar;151(3):154-9. doi: 10.1007/BF01954373.
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One-step synthesis of radioactive acyl-CoA and acylcarnitines using rat liver mitochondrial outer membrane as enzyme source.以大鼠肝脏线粒体外膜为酶源一步合成放射性酰基辅酶A和酰基肉碱。
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