RAPID DIAGNOSIS OF MEDIUM-CHAIN ACYL COA DEHYDROGENASE-DEFICIENCY BY MEASUREMENT OF CIS-4-DECENOIC ACID IN PLASMA

被引：15

作者：

HEALES, SJR

WOOLF, DA

ROBINSON, P

LEONARD, JV

机构：

[1] Department of Child Health, Institute of Child Health, London, WC1N 1EH

来源：

JOURNAL OF INHERITED METABOLIC DISEASE | 1991年 / 14卷 / 05期

关键词：

D O I：

10.1007/BF01799930

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Plasma concentrations of octanoate and cis-4-decenoate were measured by gas chromatography-mass spectrometry in children with deficiencies of medium-chain acyl-CoA dehydrogenase (MCAD), long-chain 3-hydroxyacyl-CoA dehydrogenase (3LHAD) and multiple acyl-CoA dehydrogenase (MAD) deficiency. Children receiving medium- and long-chain lipid supplements were also studied. Octanoate was elevated in all but one of the children with MCAD deficiency, in MAD deficiency and in children receiving medium-chain triglyceride supplementation. Cis-4-decenoate was only elevated in MCAD and MAD deficiency. It is concluded that measurement of plasma cis-4-decenoate provides a sensitive and specific test for defects of medium-chain acyl CoA dehydrogenase.

引用

页码：661 / 667

页数：7

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