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Novel glycine conjugates in medium-chain acyl-CoA dehydrogenase deficiency.

作者信息

Pitt J J

机构信息

Department of Clinical Biochemistry, Royal Children's Hospital, Parkville, Victoria, Australia.

出版信息

J Inherit Metab Dis. 1993;16(2):392-8. doi: 10.1007/BF00710286.

DOI:10.1007/BF00710286
PMID:8411999
Abstract

The glycine conjugates of isocaproic, 4-methylhexanoic, 7-hydroxyoctanoic and 8-hydroxyoctanoic acids have been identified in the urine of children with medium-chain acyl-CoA dehydrogenase (MCAD) deficiency using gas chromatography-mass spectrometry of the trimethylsilyl derivatives. A quantitative study showed that the glycine conjugates of isocaproic and 4-methylhexanoics acids were excreted during acute episodes and in smaller amounts when subjects were asymptomatic. The glycine conjugates of 7-hydroxyoctanoic and 8-hydroxyoctanoic acids were detectable during acute episodes. None of the conjugates was detected in controls or controls receiving a diet containing medium-chain triglycerides. It is suggested that the glycine conjugates of isocaproic acid and 4-methylhexanoic acid are metabolites of branched-chain fatty acids and that they are specific for MCAD deficiency.

摘要

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本文引用的文献

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Clin Chem. 1981 Oct;27(10):1661-4.
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Profiles in altered metabolism. II--(omega -- 1)-hydroxyacid excretion in a case of episodic hypoglycemia.
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串联质谱新生儿筛查检测中链酰基辅酶A脱氢酶缺乏症中的假性戊二酸肉碱血症。
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Clin Chim Acta. 1983 Aug 15;132(2):181-91. doi: 10.1016/0009-8981(83)90246-2.
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The differential diagnosis of dicarboxylic aciduria.二羧酸尿症的鉴别诊断。
J Inherit Metab Dis. 1984;7 Suppl 1:48-51. doi: 10.1007/BF03047374.
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The acyl-CoA dehydrogenation deficiencies. Recent advances in the enzymic characterization and understanding of the metabolic and pathophysiological disturbances in patients with acyl-CoA dehydrogenation deficiencies.酰基辅酶A脱氢酶缺乏症。酰基辅酶A脱氢酶缺乏症患者酶学特征及对代谢和病理生理紊乱理解的最新进展。
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