Second-tier test for quantification of underivatized amino acids in dry blood spot for metabolic diseases in newborn screening

Amino Acids ◽  
2012 ◽  
Vol 44 (2) ◽  
pp. 661-671 ◽  
Author(s):  
Chunyan Wang ◽  
Hongbin Zhu ◽  
Wenyan Zhang ◽  
Fengrui Song ◽  
Zhiqiang Liu ◽  
...  
Keyword(s):  
Amino Acids ◽  
Newborn Screening ◽  
Metabolic Diseases ◽  
Second Tier ◽  
Blood Spot ◽  
Underivatized Amino Acids

scholarly journals Second-Tier Test for Quantification of Alloisoleucine and Branched-Chain Amino Acids in Dried Blood Spots to Improve Newborn Screening for Maple Syrup Urine Disease (MSUD)

2008 ◽  
Vol 54 (3) ◽  
pp. 542-549 ◽  
Author(s):  
Devin Oglesbee ◽  
Karen A Sanders ◽  
Jean M Lacey ◽  
Mark J Magera ◽  
Bruno Casetta ◽  
...  
Keyword(s):  
Amino Acids ◽  
Newborn Screening ◽  
Dried Blood Spots ◽  
Branched Chain Amino Acids ◽  
Maple Syrup ◽  
Blood Spots ◽  
Urine Disease ◽  
Second Tier ◽  
Branched Chain ◽  
Positive Results

Abstract Background: Newborn screening for maple syrup urine disease (MSUD) relies on finding increased concentrations of the branched-chain amino acids (BCAAs) leucine, isoleucine, and valine by tandem mass spectrometry (MS/MS). d-Alloisoleucine (allo-Ile) is the only pathognomonic marker of MSUD, but it cannot be identified by existing screening methods because it is not differentiated from isobaric amino acids. Furthermore, newborns receiving total parenteral nutrition often have increased concentrations of BCAAs. To improve the specificity of newborn screening for MSUD and to reduce the number of diet-related false-positive results, we developed a LC-MS/MS method for quantifying allo-Ile. Methods: Allo-Ile and other BCAAs were extracted from a 3/16-inch dried blood spot punch with methanol/H2O, dried under nitrogen, and reconstituted into mobile phase. Quantitative LC-MS/MS analysis of allo-Ile, its isomers, and isotopically labeled internal standards was achieved within 15 min. To determine a reference interval for BCAAs including allo-Ile, we analyzed 541 dried blood spots. We also measured allo-Ile in blinded samples from 16 MSUD patients and 21 controls and compared results to an HPLC method. Results: Intra- and interassay imprecision (mean CVs) for allo-Ile, leucine, isoleucine, and valine ranged from 1.8% to 7.4%, and recovery ranged from 91% to 129%. All 16 MSUD patients were correctly identified. Conclusions: The LC-MS/MS method can reliably measure allo-Ile in dried blood spots for the diagnosis of MSUD. Applied to newborn screening as a second-tier test, it will reduce false-positive results, which produce family anxiety and increase follow-up costs. The assay also appears suitable for use in monitoring treatment of MSUD patients.

Quantification of Underivatized Amino Acids on Dry Blood Spot, Plasma, and Urine by HPLC-ESI-MS/MS

2019 ◽  
pp. 153-172
Author(s):  
Giuseppe Giordano ◽  
Antonina Gucciardi ◽  
Paola Pirillo ◽  
Mauro Naturale
Keyword(s):  
Amino Acids ◽  
Esi Ms ◽  
Blood Spot ◽  
Underivatized Amino Acids

A simple method for the analysis by MS/MS of underivatized amino acids on dry blood spots from newborn screening

Amino Acids ◽  
2011 ◽  
Vol 42 (5) ◽  
pp. 1889-1895 ◽  
Author(s):  
Chunyan Wang ◽  
Wenyan Zhang ◽  
Fengrui Song ◽  
Zhiqiang Liu ◽  
Shuying Liu
Keyword(s):  
Amino Acids ◽  
Newborn Screening ◽  
Simple Method ◽  
Blood Spots ◽  
Underivatized Amino Acids

Calculation and validation of cut-off values for amino acids and acylcarnitines in dried blood spot samples extracted more than seven days after birth in the catalonian newborn screening program

2019 ◽  
Vol 493 ◽  
pp. S593
Author(s):  
J.M. González De Aledo-Castillo ◽  
R.M. López Galera ◽  
A. Argudo-Ramírez ◽  
J.L. Marín Soria ◽  
C. Martínez Carreira ◽  
...  
Keyword(s):  
Amino Acids ◽  
Newborn Screening ◽  
Screening Program ◽  
Dried Blood Spot ◽  
Newborn Screening Program ◽  
Blood Spot

Method for the quantification of underivatized amino acids on dry blood spots from newborn screening by HPLC–ESI–MS/MS

2006 ◽  
Vol 831 (1-2) ◽  
pp. 267-273 ◽  
Author(s):  
Mariella Zoppa ◽  
Lorena Gallo ◽  
Franco Zacchello ◽  
Giuseppe Giordano
Keyword(s):  
Amino Acids ◽  
Newborn Screening ◽  
Esi Ms ◽  
Blood Spots ◽  
Underivatized Amino Acids
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