scholarly journals Sex‐specific perturbation of complex lipids in response to medium‐chain fatty acids in very long‐chain acyl‐CoA dehydrogenase deficiency

FEBS Journal ◽  
2020 ◽  
Vol 287 (16) ◽  
pp. 3511-3525 ◽  
Author(s):  
Khaled I. Alatibi ◽  
Zeinab Wehbe ◽  
Ute Spiekerkoetter ◽  
Sara Tucci
Keyword(s):  
Fatty Acids ◽  
Dehydrogenase Deficiency ◽  
Medium Chain ◽  
Medium Chain Fatty Acids ◽  
Chain Acyl ◽  
Complex Lipids ◽  
Long Chain ◽  
Chain Fatty Acids

Production and disposal of medium-chain fatty acids in children with medium-chain acyl-CoA dehydrogenase deficiency

1994 ◽  
Vol 17 (1) ◽  
pp. 74-80 ◽  
Author(s):  
S. J. R. Heales ◽  
G. N. Thompson ◽  
A. F. Massoud ◽  
S. Rahman ◽  
D. Halliday ◽  
...  
Keyword(s):  
Fatty Acids ◽  
Dehydrogenase Deficiency ◽  
Medium Chain ◽  
Medium Chain Fatty Acids ◽  
Chain Acyl ◽  
Chain Fatty Acids

scholarly journals Population Screening for Medium-Chain Acyl-CoA Dehydrogenase Deficiency: Analysis of Medium-Chain Fatty Acids and Acylglyeines in Blood Spots

1994 ◽  
Vol 31 (1) ◽  
pp. 72-77 ◽  
Author(s):  
Michael J Bennett ◽  
Marie C Ragni ◽  
Robert J Ostfeld ◽  
Rene Santer ◽  
Eberhard Schmidt-Sommerfeld
Keyword(s):  
Fatty Acids ◽  
Dehydrogenase Deficiency ◽  
Decenoic Acid ◽  
Mcad Deficiency ◽  
Medium Chain ◽  
Medium Chain Fatty Acids ◽  
Blood Spots ◽  
Normal Ranges ◽  
Chain Acyl ◽  
Chain Fatty Acids

We have developed methods for the measurement of the medium-chain fatty acids octanoate, decanoate and cis-4-decenoate and the acylglycines n-hexanoylglycine (HG) and 3-phenylpropionylglycine (PPG) in blood spots using gas chromatography and mass spectrometry. Normal ranges were obtained for octanoate and decanoate. HG, PPG and cis-4-decenoic acid were not detected in control blood spots. In blood spots from nine patients (including two newborn) with medium-chain acyl-CoA dehydrogenase (MCAD) deficiency, all metabolites were present in elevated concentrations although PPG was close to the detection limits and there was overlap for octanoate and decanoate. The lack of detection of cis-4-decenoic acid and HG in controls suggests that these are the metabolites of choice for blood spot identification of infants with MCAD deficiency.

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