Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: EC:1.3.99.3 (acyl-CoA dehydrogenase)
 1,425 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Using gas chromatography-mass spectrometry (GC-MS), with selected ion monitoring, a method for measurement of cis-4-decenoate in dried blood spots was developed. Using this assay, the concentration of cis-4-decenoate was determined in blood spots taken from a control population, seven children with medium chain acyl CoA dehydrogenase (MCAD) deficiency who were well at the time of sample collection and an asymptomatic sibling of a child with MCAD deficiency. cis-4-Decenoate was elevated, above the control range, in all the children with MCAD deficiency and in the previously undiagnosed sibling. It is concluded that measurement of cis-4-decenoate in dried blood spots provides a reliable and sensitive test for MCAD deficiency, that could be used in screening programmes.
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PMID:Diagnosis of medium chain acyl CoA dehydrogenase deficiency by measurement of cis-4-decenoic acid in dried blood spots. 139 39

An isotope dilution mass spectrometric assay for plasma cis-dec-4-enoic acid is described. It is quicker, more reliable and more accurate than previous methods. It confirmed previous findings that cis-dec-4-enoic acid is a reliable indicator for medium-chain acyl-CoA dehydrogenase deficiency (MCAD). The plasma cis-dec-4-enoic acid levels of both asymptomatic and symptomatic MCAD patients (3.5-71 mumol/L) are demonstrably higher than those of normal children (0.2-1.7 mumol/L), MCAD heterozygotes (0.1-1.5 mumol/L), those with other fatty acid oxidation defects (0.2-2.2 mumol/L) or those receiving high doses of valproic acid (0.2-0.4 mumol/L).
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PMID:Plasma cis-dec-4-enoic acid measured by isotope dilution mass spectrometry; an improved assay to diagnose medium-chain acyl-CoA dehydrogenase deficiency. 783 61

Plasma free fatty acid profiles from patients suffering from various mitochondrial beta-oxidation deficiencies were analyzed by gas chromatography-mass spectrometry. cis-4-Decenoic acid (10:1n-6) in medium-chain acyl-CoA dehydrogenase deficiency and cis-5-tetradecenoic acid (14:1n-9) in very-long-chain and 3-hydroxy-long chain acyl-CoA dehydrogenase deficiencies are characteristic of these diseases. In addition, patients with 3-hydroxy-long chain acyl-CoA dehydrogenase deficiency showed a specific increase of 3-hydroxy-long chain fatty acids. The study of plasma free fatty acids is an easy and useful methodology for the diagnostic approach of some mitochondrial beta-oxidation deficiencies, allowing us to establish a quick differentiation between medium- and long-chain defects.
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PMID:Plasma free fatty acids in mitochondrial fatty acid oxidation defects. 946 49