Diagnosis of inborn errors of metabolism using filter paper urine, urease treatment, isotope dilution and gas chromatography–mass spectrometry

Kuhara, Tomiko

doi:10.1016/s0378-4347(01)00138-4

Cited by 86 publications

(55 citation statements)

References 61 publications

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“…This combined technique, known generally as GC/MS, became a gold standard for identification of metabolic disorders from urine specimens (18 -20 ). The subject of numerous articles and reviews, this application remains the keystone for clinical diagnosis of organic acidemias (21)(22)(23)(24). Much of the current knowledge about organic acidemias and fatty acid oxidation defects is based on findings provided by GC/MS analysis of urine from affected individuals.…”

Section: Historical Developments Leading To the Application Of Ms/ms mentioning

confidence: 99%

Use of Tandem Mass Spectrometry for Multianalyte Screening of Dried Blood Specimens from Newborns

Chace¹,

Kalas²,

Naylor³

2003

Clinical Chemistry

569

366

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Background: Over the past decade laboratories that test for metabolic disorders have introduced tandem mass spectrometry (MS/MS), which is more sensitive, specific, reliable, and comprehensive than traditional assays, into their newborn-screening programs. MS/MS is rapidly replacing these one-analysis, one-metabolite, one-disease classic screening techniques with a oneanalysis, many-metabolites, many-diseases approach that also facilitates the ability to add new disorders to existing newborn-screening panels. Methods: During the past few years experts have authored many valuable articles describing various approaches to newborn metabolic screening by MS/MS. We attempted to document key developments in the introduction and validation of MS/MS screening for metabolic disorders. Our approach used the perspective of the metabolite and which diseases may be present from its detection rather than a more traditional approach of describing a disease and noting which metabolites are increased when it is present. Content: This review cites important historical developments in the introduction and validation of MS/MS screening for metabolic disorders. It also offers a basic technical understanding of MS/MS as it is applied to multianalyte metabolic screening and explains why MS/MS is well suited for analysis of amino acids and acylcarnitines in dried filter-paper blood specimens. It also describes amino acids and acylcarnitines as they are detected and measured by MS/MS and their significance to the identification of specific amino acid, fatty acid, and organic acid disorders. Conclusions: Multianalyte technologies such as MS/MS are suitable for newborn screening and other mass

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Section: Historical Developments Leading To the Application Of Ms/ms mentioning

confidence: 99%

Use of Tandem Mass Spectrometry for Multianalyte Screening of Dried Blood Specimens from Newborns

Chace¹,

Kalas²,

Naylor³

2003

Clinical Chemistry

569

366

View full text Add to dashboard Cite

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“…The accurate GC and GC-MS analyses, however, require one or more appropriate derivatization procedures to block all active protons present in AAs (17). For this purpose, alkylsilylation (18)(19)(20)(21)(22)(23) and alkoxycarbonyl (AOC) esterification (24-27) methods have been widely used. The AOC reaction was frequently conducted in aqueous solution with subsequent esterification (28,29) or alkylsilylation (30)(31)(32)(33)(34)(35).…”

Section: Introductionmentioning

confidence: 99%

“…However, this high pH conditions was not suitable for labile AAs such as 3,4-dihydroxyphenylalanine with catecholic hydroxyl group. Moreover, phenolic hydroxyl groups of AAs http://bmbreports.org (1) alanine, (2) glycine, (3) α-aminobutyric acid, (4) valine, (5) leucine, (6) threonine as mono-EOC/mono-TBDMS derivatives, (7) serine mono-EOC/mono-TBDMS derivatives, (8) GABA as mono-EOC/mono-TBDMS derivatives, (9) proline, (10) pipecolic acid, (7') serine as mono-EOC-di-TBDMS derivatives, (6() threonine as mono-EOC-di-TBDMS derivatives, (8) GABA as mono-EOC/di-TBDMS derivatives, (11) aspartic acid, (12) phenylalanine, (13) cysteine, (14) glutamic acid, (15) homocysteine, (16) α-aminioadipic acid, (17) tyrosine, (18) tryptophan, (19) 3,4-dihydroxyphenylalanine. IS-norvaline.…”

Section: Introductionmentioning

confidence: 99%

Altered free amino acid levels in brain cortex tissues of mice with Alzheimer's disease as their N(O,S)-ethoxycarbonyl/tert-butyldimethylsilyl derivatives

Paik

Cho²,

Mook‐Jung³

et al. 2008

BMB Reports

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“…20,22 For quantification, 100 µl of urine were spiked with 4, 4 and 100 nmol of stable isotope-labeled U, orotate and creatinine, respectively, and 25 nmol each of 2,2-dimethylsuccinate and 2-hydroxyundecanoate. The labeled U was used as the internal standard for the quantification of U, T, DHT and DHU.…”

Section: Sample Preparation and Gc/ms Analysismentioning

confidence: 99%

Screening and diagnosis of β‐ureidopropionase deficiency by gas chromatographic/mass spectrometric analysis of urine

Ohse

Matsuo

Ishida³

et al. 2002

J. Mass Spectrom.

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Dihydropyrimidine dehydrogenase (DHPDase), dihydropyrimidinase (DHPase) and beta-ureidopropionase (betaUPase) are the enzymes that catalyze the first, second, and third steps of the degradation of pyrimidines, respectively. beta-Ureidopropionate (betaUP) and beta-ureidoisobutyrate (betaUIB) are increased in the urine of patients with betaUPase deficiency. The original case in which betaUPase deficiency was discovered by NMR spectroscopy was an 11-month-old patient who presented with hypotonia and dystonic movement. We detected a second but asymptomatic case during a pilot study of neonatal screening with filter-paper urine, urease pretreatment and gas chromatography/mass spectrometry (GC/MS). The urease pretreatment of urine without fractionation resulted in a high recovery of these polar ureide compounds and allowed the highly sensitive GC/MS detection and diagnosis of betaUPase deficiency. betaUP and betaUIB were identified using GC/MS techniques. In the urine of the neonate with betaUPase deficiency, betaUP and betaUIB were persistently increased. Thymine, 5,6-dihydrothymine and 5,6-dihydrouracil were increased only moderately but significantly. It is known that thymine and uracil increase markedly in DHPDase deficiency, and 5,6-dihydrothymine and 5,6-dihydrouracil increase in DHPase deficiency. Therefore, betaUPase deficiency can be differentially diagnosed from the first and second enzyme deficiencies. Application of this specific and sensitive diagnostic procedure will lead to an understanding of the clinical heterogeneity of betaUPase deficiency. Furthermore, the identification of patients with defects in pyrimidine metabolism will enable doctors to avoid cancer chemotherapy with pyrimidine analogues such as 5-fluorouracil, which could be dangerous for these patients.

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Diagnosis of inborn errors of metabolism using filter paper urine, urease treatment, isotope dilution and gas chromatography–mass spectrometry

Cited by 86 publications

References 61 publications

Use of Tandem Mass Spectrometry for Multianalyte Screening of Dried Blood Specimens from Newborns

Use of Tandem Mass Spectrometry for Multianalyte Screening of Dried Blood Specimens from Newborns

Altered free amino acid levels in brain cortex tissues of mice with Alzheimer's disease as their N(O,S)-ethoxycarbonyl/tert-butyldimethylsilyl derivatives

Screening and diagnosis of β‐ureidopropionase deficiency by gas chromatographic/mass spectrometric analysis of urine

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