scholarly journals Simultaneous determination of 3-hydroxypropionic acid, methylmalonic acid and methylcitric acid in dried blood spots: Second-tier LC-MS/MS assay for newborn screening of propionic acidemia, methylmalonic acidemias and combined remethylation disorders

PLoS ONE ◽  
2017 ◽  
Vol 12 (9) ◽  
pp. e0184897 ◽  
Author(s):  
Péter Monostori ◽  
Glynis Klinke ◽  
Sylvia Richter ◽  
Ákos Baráth ◽  
Ralph Fingerhut ◽  
...  
Keyword(s):  
Newborn Screening ◽  
Simultaneous Determination ◽  
Methylmalonic Acid ◽  
Propionic Acidemia ◽  
Dried Blood Spots ◽  
Blood Spots ◽  
Second Tier ◽  
Hydroxypropionic Acid

Determination of psychosine concentration in dried blood spots from newborns that were identified via newborn screening to be at risk for Krabbe disease

2013 ◽  
Vol 419 ◽  
pp. 73-76 ◽  
Author(s):  
Wei-Lien Chuang ◽  
Josh Pacheco ◽  
X. Kate Zhang ◽  
Monica M. Martin ◽  
Chad K. Biski ◽  
...  
Keyword(s):  
At Risk ◽  
Newborn Screening ◽  
Dried Blood Spots ◽  
Krabbe Disease ◽  
Blood Spots

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.

Simultaneous determination of cocaine, ecgonine methyl ester, benzoylecgonine, cocaethylene and norcocaine in dried blood spots by ultra-performance liquid chromatography coupled to tandem mass spectrometry

2019 ◽  
Vol 298 ◽  
pp. 408-416 ◽  
Author(s):  
Lilian de Lima Feltraco Lizot ◽  
Anne Caroline Cezimbra da Silva ◽  
Marcos Frank Bastiani ◽  
Roberta Zilles Hahn ◽  
Rachel Bulcão ◽  
...  
Keyword(s):  
Mass Spectrometry ◽  
Liquid Chromatography ◽  
Methyl Ester ◽  
Tandem Mass Spectrometry ◽  
Simultaneous Determination ◽  
Dried Blood Spots ◽  
Ultra Performance Liquid Chromatography ◽  
Tandem Mass ◽  
Blood Spots

Simultaneous determination of cocaine and opiates in dried blood spots by electrospray ionization tandem mass spectrometry

Talanta ◽  
2013 ◽  
Vol 117 ◽  
pp. 235-241 ◽  
Author(s):  
Ángel Antelo-Domínguez ◽  
José Ángel Cocho ◽  
María Jesús Tabernero ◽  
Ana María Bermejo ◽  
Pilar Bermejo-Barrera ◽  
...  
Keyword(s):  
Mass Spectrometry ◽  
Tandem Mass Spectrometry ◽  
Electrospray Ionization ◽  
Simultaneous Determination ◽  
Dried Blood Spots ◽  
Tandem Mass ◽  
Blood Spots ◽  
Ionization Tandem Mass Spectrometry

scholarly journals A False-Positive Case of Methylmalonic Aciduria by Tandem Mass Spectrometry Newborn Screening Dependent on Maternal Malnutrition in Pregnancy

2020 ◽  
Vol 17 (10) ◽  
pp. 3601 ◽  
Author(s):  
Claudia Rossi ◽  
Ilaria Cicalini ◽  
Cristiano Rizzo ◽  
Mirco Zucchelli ◽  
Ada Consalvo ◽  
...  
Keyword(s):  
Newborn Screening ◽  
False Positive ◽  
Vitamin B12 Deficiency ◽  
Propionic Acidemia ◽  
Dried Blood Spots ◽  
Specific Marker ◽  
Inborn Errors ◽  
Maternal Malnutrition ◽  
Ms Analysis ◽  
Second Tier

Methylmalonic Acidurias (MMAs) are a group of inborn errors of metabolism (IEMs), specifically of propionate catabolism characterized by gastrointestinal and neurometabolic manifestations resulting from a deficiency in the function of methylmalonyl-CoA mutase, methylmalonyl-CoA epimerase, and cobalamin metabolism. In Expanded Newborn Screening (NBS), increased levels of propionylcarnitine (C3) and/or of its ratios by MS/MS analysis of dried blood spots (DBS) samples are suggestive for either Propionic Acidemia or MMAs. C3 elevation is not considered a specific marker for these disorders, resulting in high false-positive rates. The use of analyte ratios improves specificity, but it still cannot resolve the diagnostic issue. Second-tier testing are strongly recommended as confirmation of primary NBS results and for a differential diagnosis. LC-MS/MS analysis allows the quantification of more specific markers of the disorder. Here, we report the case of a newborn with a suspected MMA at Expanded NBS and at second-tier test. Given the urgent situation, in-depth diagnostic investigations were performed. Further investigations surprisingly revealed a Vitamin B12 deficiency due to a maternal malnutrition during pregnancy. This case emphasized that metabolic alterations at NBS may not only be influenced by genome and related to IEMs, but also to external factors and to maternal conditions.

scholarly journals SIMULTANEOUS DETERMINATION OF CARBAMAZEPINE, PHENYTOIN AND PHENOBARBITAL IN DRIED BLOOD SPOTS BY HIGH PERFORMANCE LIQUID CHROMATOGRAPHY

Química Nova ◽  
2014 ◽  
Author(s):  
Gabriela Martins Silva de Lima ◽  
Roberta Zilles Hahn ◽  
Cristina Rama ◽  
Liliane Rhoden ◽  
Paulina Hidalgo ◽  
...  
Keyword(s):  
High Performance Liquid Chromatography ◽  
Liquid Chromatography ◽  
Simultaneous Determination ◽  
High Performance ◽  
Dried Blood Spots ◽  
Blood Spots

scholarly journals LC-MS/MS method for the simultaneous determination of tenofovir, emtricitabine, elvitegravir and rilpivirine in dried blood spots

2018 ◽  
Vol 32 (9) ◽  
pp. e4270 ◽  
Author(s):  
Pavan Kumar Prathipati ◽  
Subhra Mandal ◽  
Christopher J. Destache
Keyword(s):  
Simultaneous Determination ◽  
Dried Blood Spots ◽  
Blood Spots

Simultaneous determination of amodiaquine and pioglitazone on dried blood spots (DBS) by HPLC–DAD and its usefulness in pharmacokinetic studies

2017 ◽  
Vol 40 (19) ◽  
pp. 997-1001 ◽  
Author(s):  
Opeyemi Edema ◽  
Ayorinde Adehin ◽  
Babatunde Ayodeji Adeagbo ◽  
Tiwalade Adewale Olugbade
Keyword(s):  
Simultaneous Determination ◽  
Dried Blood Spots ◽  
Pharmacokinetic Studies ◽  
Blood Spots
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