scholarly journals Direct multiplex assay of enzymes in dried blood spots by tandem mass spectrometry for the newborn screening of lysosomal storage disorders

2006 ◽  
Vol 29 (2-3) ◽  
pp. 397-404 ◽  
Author(s):  
Michael H. Gelb ◽  
Frantisek Turecek ◽  
C. Ron Scott ◽  
Nestor A. Chamoles
Keyword(s):  
Mass Spectrometry ◽  
Tandem Mass Spectrometry ◽  
Newborn Screening ◽  
Dried Blood Spots ◽  
Multiplex Assay ◽  
Lysosomal Storage Disorders ◽  
Tandem Mass ◽  
Lysosomal Storage ◽  
Blood Spots ◽  
Storage Disorders

scholarly journals Use of Tandem Mass Spectrometry for Newborn Screening of 6 Lysosomal Storage Disorders in a Korean Population

2011 ◽  
Vol 31 (4) ◽  
pp. 250-256 ◽  
Author(s):  
Minje Han ◽  
Sun-Hee Jun ◽  
Sang Hoon Song ◽  
Kyoung Un Park ◽  
Jin Q Kim ◽  
...  
Keyword(s):  
Mass Spectrometry ◽  
Tandem Mass Spectrometry ◽  
Newborn Screening ◽  
Lysosomal Storage Disorders ◽  
Korean Population ◽  
Tandem Mass ◽  
Lysosomal Storage ◽  
Storage Disorders

Newborn screening for lysosomal storage disorders by tandem mass spectrometry in North East Italy

2017 ◽  
Vol 41 (2) ◽  
pp. 209-219 ◽  
Author(s):  
Alberto B. Burlina ◽  
Giulia Polo ◽  
Leonardo Salviati ◽  
Giovanni Duro ◽  
Carmela Zizzo ◽  
...  
Keyword(s):  
Mass Spectrometry ◽  
Tandem Mass Spectrometry ◽  
Newborn Screening ◽  
Lysosomal Storage Disorders ◽  
Tandem Mass ◽  
Lysosomal Storage ◽  
North East ◽  
Storage Disorders

Incorporating the measurement of EDTA in dried blood spots (DBS) by tandem mass spectrometry in routine newborn screening

2014 ◽  
Vol 47 (15) ◽  
pp. 144
Author(s):  
Lawrence J. Fisher ◽  
Osama Y. Al-Dirbashi ◽  
Svetlana Ogrel ◽  
Nathan McIntosh ◽  
Michael T. Geraghty ◽  
...  
Keyword(s):  
Mass Spectrometry ◽  
Tandem Mass Spectrometry ◽  
Newborn Screening ◽  
Dried Blood Spots ◽  
Tandem Mass ◽  
Blood Spots

scholarly journals Validation of Accuracy-based Amino Acid Reference Materials in Dried-Blood Spots by Tandem Mass Spectrometry for Newborn Screening Assays

1999 ◽  
Vol 45 (8) ◽  
pp. 1269-1277 ◽  
Author(s):  
Donald H Chace ◽  
Barbara W Adam ◽  
S Jay Smith ◽  
J Richard Alexander ◽  
Steven L Hillman ◽  
...  
Keyword(s):  
Mass Spectrometry ◽  
Amino Acids ◽  
Amino Acid ◽  
Tandem Mass Spectrometry ◽  
Newborn Screening ◽  
Dried Blood Spots ◽  
Tandem Mass ◽  
Blood Spots ◽  
Amino Acid Contents ◽  
Amino Acid Concentrations

Abstract Background: Advances in technology and the earlier release of newborns from hospitals have pressed the demand for accurate calibration and improved interlaboratory performance for newborn screening tests. As a first step toward standardization of newborn screening aminoacidopathy tests, we have produced six-pool sets of multianalyte dried-blood-spot amino acid reference materials (AARMs) containing predetermined quantities of five amino acids. We describe here the production of the AARMs, validation of their amino acid contents, and characterization of their homogeneity and their stability in storage. Methods: To each of six portions of a pool of washed erythrocytes suspended in serum we added Phe (0–200 mg/L), Leu (0–200 mg/L), Met (0–125 mg/L), Tyr (0–125 mg/L), and Val (0–125 mg/L). Six-pool sets (1300) were prepared, dried, and packaged. We used isotope-dilution mass spectrometry to estimate the endogenous amino acid concentrations of the AARMs and validate their final amino acid concentrations. We used additional tandem mass spectrometry analyses to examine the homogeneity of amino acid distribution in each AARM, and HPLC analyses to evaluate the stability of the amino acid contents of the AARMs. Results: The absolute mean biases across the analytic range for five amino acids were 2.8–9.4%. One-way ANOVAs of the homogeneity results predicted no statistically significant differences in amino acid concentrations within the blood spots or within the pools (P >0.05). Regression slopes (0 ± 0.01) for amino acid concentrations vs storage times and their P values (>0.05) showed no evidence of amino acid degradation at ambient temperatures, 4 °C, or −20 °C during the intervals tested. Conclusion: The validation, homogeneity, and stability of these blood spots support their use as a candidate national reference material for calibration of assays that measure amino acids in dried-blood spots.

scholarly journals Validation of a Multiplex Tandem Mass Spectrometry Method for the Detection of Selected Lysosomal Storage Diseases in Dried Blood Spots

2017 ◽  
Vol 5 ◽  
pp. 232640981769236
Author(s):  
Graziela Schmitt Ribas ◽  
Jurema Fátima De Mari ◽  
Gabriel Civallero ◽  
Heryk Motta de Souza ◽  
Maira Graeff Burin ◽  
...  
Keyword(s):  
Mass Spectrometry ◽  
Tandem Mass Spectrometry ◽  
Lysosomal Storage Diseases ◽  
Dried Blood Spots ◽  
Tandem Mass ◽  
Lysosomal Storage ◽  
Spectrometry Method ◽  
Storage Diseases ◽  
Mass Spectrometry Method ◽  
Blood Spots

scholarly journals Determination of Oligosaccharides in Pompe Disease by Electrospray Ionization Tandem Mass Spectrometry

2002 ◽  
Vol 48 (1) ◽  
pp. 131-139 ◽  
Author(s):  
Tina Rozaklis ◽  
Steven L Ramsay ◽  
Phillip D Whitfield ◽  
Enzo Ranieri ◽  
John J Hopwood ◽  
...  
Keyword(s):  
Mass Spectrometry ◽  
Tandem Mass Spectrometry ◽  
Electrospray Ionization ◽  
Pompe Disease ◽  
Dried Blood Spots ◽  
Tandem Mass ◽  
Lysosomal Storage ◽  
Blood Spots ◽  
Limited Application ◽  
Ionization Tandem Mass Spectrometry

Abstract Background: The development of therapies for lysosomal storage disorders has created a need for biochemical markers to monitor the efficacy of therapy and methods to quantify these markers in biologic samples. In Pompe disease, the concentration of a tetrasaccharide, consisting of four glucose residues, is reputedly increased in urine and plasma, but faster and more sensitive methods are required for the analysis of this, and other oligosaccharides, from biologic fluids. Methods: We optimized the derivatization of storage oligosaccharides with 1-phenyl-3-methyl-5-pyrazolone for the measurement, by electrospray ionization tandem mass spectrometry, of oligosaccharide concentrations in urine (n = 6), plasma (n = 11), and dried-blood spots (n = 17) from Pompe-affected individuals. Age-matched control samples of urine (n = 10), plasma (n = 28), and blood spots (n = 369) were also analyzed. Results: The mean tetrasaccharide concentration was increased in urine from infantile-onset (0.69–12 mmol/mol of creatinine) and adult-onset (0.22–3.0 mmol/mol of creatinine) Pompe individuals compared with age-matched controls. In plasma samples, an increased tetrasaccharide concentration was observed in some infantile patients (up to 22 μmol/L) compared with age-matched controls (mean, 2.2 μmol/L). The method developed was sensitive enough to determine oligosaccharide concentrations in a single 3-mm blood spot, but no differences were observed between blood spots from control and Pompe-affected individuals. Conclusions: Measurements of oligosaccharide concentrations in urine by this new method have potential application for the diagnosis and monitoring of patients with Pompe disease. Plasma analysis may have limited application for infantile patients, but analysis of blood spots does not discriminate between controls and affected individuals.

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