Fatty acid neutral losses observed in tandem mass spectrometry with collision-induced dissociation allows regiochemical assignment of sulfoquinovosyl-diacylglycerols

2013 ◽  
Vol 48 (2) ◽  
pp. 205-215 ◽  
Author(s):  
Rosalia Zianni ◽  
Giuliana Bianco ◽  
Filomena Lelario ◽  
Ilario Losito ◽  
Francesco Palmisano ◽  
...  
Keyword(s):  
Mass Spectrometry ◽  
Fatty Acid ◽  
Tandem Mass Spectrometry ◽  
Collision Induced Dissociation ◽  
Tandem Mass

scholarly journals The role of tandem mass spectrometry in the diagnosis of inherited metabolic diseases

2018 ◽  
Vol 5 (3) ◽  
pp. 96-105 ◽  
Author(s):  
G. V. Baydakova ◽  
T. A. Ivanova ◽  
E. Yu. Zakharova ◽  
O. S. Kokorina
Keyword(s):  
Mass Spectrometry ◽  
Fatty Acid ◽  
Tandem Mass Spectrometry ◽  
Fatty Acid Oxidation ◽  
Metabolic Diseases ◽  
Acid Oxidation ◽  
Tandem Mass ◽  
Organic Acidurias ◽  
Inherited Metabolic Diseases ◽  
Screening Programs

This paper reviews the clinical applications of tandem mass spectrometry in diagnosis and screening for inherited metabolic diseases. The broad-spectrum of diseases covered, specificity, ease of sample preparation, and high throughput provided by the MS/MS technology has led to the development of multi-disorder newborn screening programs in many countries for amino acid disorders, organic acidurias, and fatty acid oxidation defects. The application of MS/MS in selective screening has revolutionized the field and made a major impact on the detection of certain disease classes such as the fatty acid oxidation defects. New specific and rapid tandem mass spectrometry (MS/MS) and high performance liquid chromatography–MS/MS methods are supplementing or replacing some of the classical gas chromatography– MS/MS methods for a multitude of metabolites and disorders. In the near future, we should expect the emergence of new promising methods for diagnosing not only individual nosologic forms, but also entire groups of inherited metabolic diseases.

scholarly journals Electrospray Tandem Mass Spectrometry for Analysis of Acylcarnitines in Dried Postmortem Blood Specimens Collected at Autopsy from Infants with Unexplained Cause of Death

2001 ◽  
Vol 47 (7) ◽  
pp. 1166-1182 ◽  
Author(s):  
Donald H Chace ◽  
James C DiPerna ◽  
Brenda L Mitchell ◽  
Bethany Sgroi ◽  
Lindsay F Hofman ◽  
...  
Keyword(s):  
Mass Spectrometry ◽  
Fatty Acid ◽  
Amino Acid ◽  
Tandem Mass Spectrometry ◽  
Metabolic Disorders ◽  
Tandem Mass ◽  
Postmortem Blood ◽  
Blood Specimens ◽  
Medical Examiners ◽  
Long Chain

Abstract Background: Deaths from inherited metabolic disorders may remain undiagnosed after postmortem examination and may be classified as sudden infant death syndrome. Tandem mass spectrometry (MS/MS) may reveal disorders of fatty acid oxidation in deaths of previously unknown cause. Methods: We obtained filter-paper blood from 7058 infants from United States and Canadian Medical Examiners. Acylcarnitine and amino acid profiles were obtained by MS/MS. Specialized interpretation was used to evaluate profiles for disorders of fatty acid, organic acid, and amino acid metabolism. The analyses of postmortem blood specimens were compared with the analyses of bile specimens, newborn blood specimens, and specimens obtained from older infants at risk for metabolic disorders. Results: Results on 66 specimens suggested diagnoses of metabolic disorders. The most frequently detected disorders were medium-chain and very-long-chain acyl-CoA dehydrogenase deficiencies (23 and 9 cases, respectively), glutaric acidemia type I and II deficiencies (3 and 8 cases, respectively), carnitine palmitoyl transferase type II/translocase deficiencies (6 cases), severe carnitine deficiency (4 cases), isovaleric acidemia/2-methylbutyryl-CoA dehydrogenase deficiencies (4 cases), and long-chain hydroxyacyl-CoA dehydrogenase/trifunctional protein deficiencies (4 cases). Conclusions: Postmortem metabolic screening can explain deaths in infants and children and provide estimates of the number of infant deaths attributable to inborn errors of metabolism. MS/MS is cost-effective for analysis of postmortem specimens and should be considered for routine use by Medical Examiners and pathologists in unexpected/unknown infant and child death.

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