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Tandem Mass Spectrometry in the Detection of Inborn Errors of Metabolism for Newborn Screening

 Last Update: 2020-12-01
 Source: Internet
 Author: User

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Tandem mass spectrometry has been used for determinations of enzyme activities in biological samples. Activities in rehydrateddried blood spots of lysosomal enzymes glucocerebrosidase, acid sphingomyelinase, galactocerebroside β-galactosidase, acid-α-galactosidase,acid α-glucosidase, and α-
D
-iduronidase are measured simultaneously by multiple-reaction monitoring of ion dissociations from cations produced by electrosprayionization of enzymatic products. Simple and inexpensive assay protocols are described that are readily adopted for handlingmultiple samples in 96-well microtiter plates, employing simple separation steps, and using less than or equal to 3 �mol ofsynthetic or commercially available substrates, and less than 25 nmol of internal standards per analysis. The assays havethe potential of being used for large-scale screening of newborns for the detection of inborn errors of metabolism.

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