scholarly journals Screening for medium chain acyl-CoA dehydrogenase deficiency using electrospray ionisation tandem mass spectrometry

1998 ◽  
Vol 79 (2) ◽  
pp. 109-115 ◽  
Author(s):  
P. T Clayton ◽  
M. Doig ◽  
S. Ghafari ◽  
C. Meaney ◽  
C. Taylor ◽  
...  
Keyword(s):  
Mass Spectrometry ◽  
Tandem Mass Spectrometry ◽  
Dehydrogenase Deficiency ◽  
Tandem Mass ◽  
Medium Chain ◽  
Electrospray Ionisation ◽  
Chain Acyl

scholarly journals Neonatal Screening on Tandem Mass Spectrometry as a Powerful Tool for the Reassessment of the Prevalence of Underestimated Diseases in Newborns and Their Family Members: A Focus on Short Chain Acyl-CoA Dehydrogenase Deficiency

2020 ◽  
Vol 6 (3) ◽  
pp. 58
Author(s):  
MariaAnna Messina ◽  
Alessia Arena ◽  
Agata Fiumara ◽  
Riccardo Iacobacci ◽  
Concetta Meli ◽  
...  
Keyword(s):  
Mass Spectrometry ◽  
Tandem Mass Spectrometry ◽  
Newborn Screening ◽  
Dehydrogenase Deficiency ◽  
Family Members ◽  
Clinical Manifestations ◽  
Vitamin B12 Deficiency ◽  
Short Chain ◽  
Tandem Mass ◽  
Chain Acyl

Early detection of disabling diseases, prior to clinical manifestations, is the primary goal of newborn screening (NS). Indeed, the required number of core and secondary conditions selected for screening panels is increasing in many countries. Furthermore, newborn screening can lead to diagnosis of maternal diseases such as vitamin B12 deficiency or 3-MethylcrotonylCoA-carboxylase deficiency (3MCC). NS became mandatory in Sicily in December 2017. Here we report NS data collected between December 2017 and April 2020. Our results show that tandem mass spectrometry is a powerful tool for discovery of underestimated disease in newborns and their family members. Our panel included short chain acyl-CoA dehydrogenase deficiency (SCADD). Here, we report that results of our investigation led to reassessment of SCADD prevalence in our population. The infant and adult patients diagnosed in our study had previously not shown overt symptoms.

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

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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