Analysis of isomeric long-chain hydroxy fatty acids by tandem mass spectrometry: application to the diagnosis of long-chain 3-hydroxyacyl CoA dehydrogenase deficiency

2003 ◽  
Vol 17 (2) ◽  
pp. 171-175 ◽  
Author(s):  
David W. Johnson ◽  
Minh-Uyen Trinh
Keyword(s):  
Mass Spectrometry ◽  
Fatty Acids ◽  
Tandem Mass Spectrometry ◽  
Dehydrogenase Deficiency ◽  
Hydroxy Fatty Acids ◽  
Tandem Mass ◽  
Hydroxyacyl Coa Dehydrogenase ◽  
Mass Spectrometry Application ◽  
Long Chain

scholarly journals Newborn Screening for Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase and Mitochondrial Trifunctional Protein Deficiencies Using Acylcarnitines Measurement in Dried Blood Spots—A Systematic Review of Test Accuracy

2021 ◽  
Vol 9 ◽  
Author(s):  
Chris Stinton ◽  
Hannah Fraser ◽  
Julia Geppert ◽  
Rebecca Johnson ◽  
Martin Connock ◽  
...  
Keyword(s):  
Mass Spectrometry ◽  
Tandem Mass Spectrometry ◽  
Dried Blood Spots ◽  
Test Accuracy ◽  
Tandem Mass ◽  
Blood Spots ◽  
Hydroxyacyl Coa Dehydrogenase ◽  
Sensitivity Specificity ◽  
Long Chain

Background: Long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) and mitochondrial trifunctional protein (MTP) deficiencies are rare autosomal recessive fatty acid β-oxidation disorders. Their clinical presentations are variable, and premature death is common. They are included in newborn blood spot screening programs in many countries around the world. The current process of screening, through the measurement of acylcarnitines (a metabolic by-product) in dried blood spots with tandem mass spectrometry, is subject to uncertainty regarding test accuracy.Methods: We conducted a systematic review of literature published up to 19th June 2018. We included studies that investigated newborn screening for LCHAD or MTP deficiencies by tandem mass spectrometry of acylcarnitines in dried blood spots. The reference standards were urine organic acids, blood acylcarnitine profiles, enzyme analysis in cultured fibroblasts or lymphocytes, mutation analysis, or at least 10-year follow-up. The outcomes of interest were sensitivity, specificity, positive predictive value (PPV), and negative predictive value (NPV). Assessment of titles, abstracts, and full-text papers and quality appraisal were carried out independently by two reviewers. One reviewer extracted study data. This was checked by a second reviewer.Results: Ten studies provided data on test accuracy. LCHAD or MTP deficiencies were identified in 23 babies. No cases of LCHAD/MTP deficiencies were identified in four studies. PPV ranged from 0% (zero true positives and 28 false positives from 276,565 babies screened) to 100% (13 true positives and zero false positives from 2,037,824 babies screened). Sensitivity, specificity, and NPV could not be calculated as there was no systematic follow-up of babies who screened negative.Conclusions: Test accuracy estimates of screening for LCHAD and MTP deficiencies with tandem mass spectrometry measurement of acylcarnitines in dried blood were variable in terms of PPVs. Screening methods (including markers and thresholds) varied between studies, and sensitivity, specificity, and NPVs are unknown.

Tandem Mass Spectrometry Screening for Very Long-Chain Acyl-CoA Dehydrogenase Deficiency: The Value of Second-Tier Enzyme Testing

2010 ◽  
Vol 157 (4) ◽  
pp. 668-673 ◽  
Author(s):  
Ute Spiekerkoetter ◽  
Ulrike Haussmann ◽  
Martina Mueller ◽  
Frank ter Veld ◽  
Maren Stehn ◽  
...  
Keyword(s):  
Mass Spectrometry ◽  
Tandem Mass Spectrometry ◽  
Dehydrogenase Deficiency ◽  
Tandem Mass ◽  
Chain Acyl ◽  
Second Tier ◽  
Long Chain

Profiling of 3-hydroxy fatty acids as environmental markers of endotoxin using liquid chromatography coupled to tandem mass spectrometry

2016 ◽  
Vol 1434 ◽  
pp. 119-126 ◽  
Author(s):  
Silvio Uhlig ◽  
Mariell Negård ◽  
Kari K. Heldal ◽  
Anne Straumfors ◽  
Lene Madsø ◽  
...  
Keyword(s):  
Mass Spectrometry ◽  
Fatty Acids ◽  
Liquid Chromatography ◽  
Tandem Mass Spectrometry ◽  
Hydroxy Fatty Acids ◽  
Tandem Mass

Pitfalls of neonatal screening for very-long-chain acyl-CoA dehydrogenase deficiency using tandem mass spectrometry

2006 ◽  
Vol 149 (1) ◽  
pp. 128-130 ◽  
Author(s):  
Ina Schymik ◽  
Michaela Liebig ◽  
Martina Mueller ◽  
Udo Wendel ◽  
Ertan Mayatepek ◽  
...  
Keyword(s):  
Mass Spectrometry ◽  
Tandem Mass Spectrometry ◽  
Neonatal Screening ◽  
Dehydrogenase Deficiency ◽  
Tandem Mass ◽  
Chain Acyl ◽  
Long Chain

scholarly journals A Novel Tandem Mass Spectrometry Method for Rapid Confirmation of Medium- and Very Long-Chain acyl-CoA Dehydrogenase Deficiency in Newborns

PLoS ONE ◽  
2009 ◽  
Vol 4 (7) ◽  
pp. e6449 ◽  
Author(s):  
Frank ter Veld ◽  
Martina Mueller ◽  
Simone Kramer ◽  
Ulrike Haussmann ◽  
Diran Herebian ◽  
...  
Keyword(s):  
Mass Spectrometry ◽  
Tandem Mass Spectrometry ◽  
Dehydrogenase Deficiency ◽  
Tandem Mass ◽  
Spectrometry Method ◽  
Mass Spectrometry Method ◽  
Chain Acyl ◽  
Long Chain
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