Rapid diagnosis of phenylketonuria by quantitative analysis for phenylalanine and tyrosine in neonatal blood spots by tandem mass spectrometry

Chace, Donald H.; Millington, David S.; Terada, Naoto; Kahler, Stephen G.; Roe, Charles R.; Hofman, L F

doi:10.1093/clinchem/39.1.66

Cited by 337 publications

(149 citation statements)

References 7 publications

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“…The analysis in DBS allows to reduce the degree of invasiveness of blood sampling, requires a small amount of sample, and the DBS can be easily sent to laboratories. Several markers are today analyzed in the blood spot to study populations for diagnostic and epidemiological purposes, and not least for drug monitoring (21,(25)(26)(27)(28)(29)(30)(31).…”

Section: Discussionmentioning

confidence: 99%

Development and Validation of an Enzymatic Method for Total Cholesterol Analysis Using Whole Blood Spot

Corso

Papagni

Gelzo

et al. 2015

Clinical Laboratory Analysis

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Section: Discussionmentioning

confidence: 99%

Development and Validation of an Enzymatic Method for Total Cholesterol Analysis Using Whole Blood Spot

Corso

Papagni

Gelzo

et al. 2015

Clinical Laboratory Analysis

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“…[15,16] The technique is currently used in clinical mass spectrometry to detect amino acid disorders in newborns. [17][18][19][20][21][22][23][24] Dried blood spots extracted from newborn babies are commonly derivatized to their n-butyl esters and identified by MRM. Arg is one of the amino acids monitored by this method for the detection of inherited errors of the urea cycle such as argininosuccinic aciduria [17] and arginemia.…”

Section: Introductionmentioning

confidence: 99%

Study of the fragmentation of arginine isobutyl ester applied to arginine quantification in Aedes aegypti mosquito excreta

Bush

Wysocki²,

Scaraffia

2012

J. Mass. Spectrom.

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It has been demonstrated that argininolysis and uricolysis are involved in the synthesis and excretion of urea in Aedes aegypti female mosquitoes. To further investigate the metabolic regulation of urea in female mosquitoes, it is desirable to have a rapid and efficient method to monitor arginine (Arg) concentration in mosquito excreta. Thus, a procedure currently used for the identification of Arg in urea cycle disorders in newborn babies was adapted to analyze Arg in A. aegypti excreta. The fragmentation patterns of the isobutyl esters of Arg and 15N2-Arg (labeled at the guanidino group) were explored by electrospray ionization (ESI)-tandem mass spectrometry and fragmentation pathways not described before were characterized. In addition, Arg, 18O2-Arg, 15N2-Arg and 15N2-18O2-Arg were also analyzed to elucidate some of the minor fragments in greater detail. Mosquito excreta from individual females were collected before and at different times after feeding a blood meal, mixed with 15N2-Arg, an internal standard, and then derivatized as isobutyl esters. Based on the fragmentation mechanisms of Arg standards, studied by MS2 and MS3, Arg in the mosquito excreta was successfully analyzed by ESI-multiple-reaction monitoring (MRM) in a triple-quadrupole mass spectrometer. Arg excretion was monitored over a 120 h window before and after feeding female mosquitoes with a blood meal, with the maximum level of Arg excretion observed at 36–48 hours post blood feeding. This method provides an efficient and rapid tool to quantify Arg in individual blood-fed mosquitoes, and can be applied to other organisms, whose small size severally limits the use of conventional biochemical analysis.

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“…Phenylalanine and tyrosine Diagnosis of phenylketonuria Capillary electrophoresis-MS [200] 62. Phenylketonuria Phenylalanine and tyrosine quantification in neonatal blood LC-MS/MS [201] 63. Phosphatidylethanol Monitoring of alcohol misuse LC-MS/MS [202] 64.…”

Section: Markers For Hepatitis a And Bmentioning

confidence: 99%

Dried blood spots: Concepts, present status, and future perspectives in bioanalysis

Sharma

Jaiswal

Shukla

et al. 2014

Drug Testing and Analysis

114

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Over the past several years, dried blood spot (DBS) sampling technique has emerged as a pertinent method in both qualitative and quantitative bioanalysis context. In the DBS method, the blood sample is directly soaked on to a paper (with or without treatment). After drying it can be analyzed by modern analytical, immunological, or genomic detection systems. Several advantages of the DBS technique such as low blood volume requirement, transportation and storage without special treatment, better analytes stability, enhanced clinical cooperation in clinical trials, and reduced unforeseeable exposure of analysts to biohazards, make it the most appropriate blood sampling technique. This review illustrates the information available on the DBS method which may serve as a single window for investigators in the field of bioanalysis. Also, it explores the proficiency and appliance of the DBS method in pharmacokinetic (PK), therapeutic drug monitoring (TDM), toxicokinetic (TK), metabolomic, and disease diagnosis.

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Rapid diagnosis of phenylketonuria by quantitative analysis for phenylalanine and tyrosine in neonatal blood spots by tandem mass spectrometry

Cited by 337 publications

References 7 publications

Development and Validation of an Enzymatic Method for Total Cholesterol Analysis Using Whole Blood Spot

Development and Validation of an Enzymatic Method for Total Cholesterol Analysis Using Whole Blood Spot

Study of the fragmentation of arginine isobutyl ester applied to arginine quantification in Aedes aegypti mosquito excreta

Dried blood spots: Concepts, present status, and future perspectives in bioanalysis

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