scholarly journals Direct Assay of Enzymes in Heme Biosynthesis for the Detection of Porphyrias by Tandem Mass Spectrometry. Porphobilinogen Deaminase

2008 ◽  
Vol 80 (7) ◽  
pp. 2606-2611 ◽  
Author(s):  
Yuesong Wang ◽  
C. Ronald Scott ◽  
Michael H. Gelb ◽  
František Tureček
Keyword(s):  
Mass Spectrometry ◽  
Tandem Mass Spectrometry ◽  
Heme Biosynthesis ◽  
Porphobilinogen Deaminase ◽  
Tandem Mass ◽  
Direct Assay

scholarly journals Direct Assay of δ-Aminolevulinic Acid Dehydratase in Heme Biosynthesis for the Detection of Porphyrias by Tandem Mass Spectrometry

2010 ◽  
Vol 82 (15) ◽  
pp. 6730-6736 ◽  
Author(s):  
John R. Choiniere ◽  
C. Ronald Scott ◽  
Michael H. Gelb ◽  
František Tureček
Keyword(s):  
Mass Spectrometry ◽  
Tandem Mass Spectrometry ◽  
Aminolevulinic Acid ◽  
Heme Biosynthesis ◽  
Tandem Mass ◽  
Acid Dehydratase ◽  
Direct Assay

Direct assay of iduronate-2-sulfatase for Hunter disease using UPLC-tandem mass spectrometry and fluorogenic substrate

2015 ◽  
Vol 48 (18) ◽  
pp. 1350-1353 ◽  
Author(s):  
Kyunghoon Lee ◽  
Sun-Hee Jun ◽  
Sang Hoon Song ◽  
Hyung-Doo Park ◽  
Kyoung Un Park ◽  
...  
Keyword(s):  
Mass Spectrometry ◽  
Tandem Mass Spectrometry ◽  
Tandem Mass ◽  
Fluorogenic Substrate ◽  
Hunter Disease ◽  
Direct Assay

scholarly journals Newborn Screening for Lysosomal Storage Diseases

2015 ◽  
Vol 61 (2) ◽  
pp. 335-346 ◽  
Author(s):  
Michael H Gelb ◽  
C Ronald Scott ◽  
Frantisek Turecek
Keyword(s):  
Mass Spectrometry ◽  
Tandem Mass Spectrometry ◽  
Newborn Screening ◽  
Lysosomal Storage Diseases ◽  
Small Scale ◽  
Screening Methods ◽  
Tandem Mass ◽  
Lysosomal Storage ◽  
Storage Diseases ◽  
Direct Assay

Abstract BACKGROUND There is worldwide interest in newborn screening for lysosomal storage diseases because of the development of treatment options that give better results when carried out early in life. Screens with high differentiation between affected and nonaffected individuals are critical because of the large number of potential false positives. CONTENT This review summarizes 3 screening methods: (a) direct assay of enzymatic activities using tandem mass spectrometry or fluorometry, (b) immunocapture-based measurement of lysosomal enzyme abundance, and (c) measurement of biomarkers. Assay performance is compared on the basis of small-scale studies as well as on large-scale pilot studies of mass spectrometric and fluorometric screens. SUMMARY Tandem mass spectrometry and fluorometry techniques for direct assay of lysosomal enzymatic activity in dried blood spots have emerged as the most studied approaches. Comparative mass spectrometry vs fluorometry studies show that the former better differentiates between nonaffected vs affected individuals. This in turn leads to a manageable number of screen positives that can be further evaluated with second-tier methods.

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