Extended diagnosis of purine and pyrimidine disorders from urine: LC MS/MS assay development and clinical validation
Background and aims: Inborn errors of purine and pyrimidine metabolism are a diverse group of disorders with possible serious or life-threatening symptoms. They may be associated with neurological symptoms, renal stone disease or immunodeficiency. However, the clinical presentation can be nonspecifi...
Gespeichert in:
| Hauptverfasser: | , , , , , , |
|---|---|
| Dokumenttyp: | Article (Journal) |
| Sprache: | Englisch |
| Veröffentlicht: |
February 28, 2019
|
| In: |
PLOS ONE
Year: 2019, Jahrgang: 14, Heft: 2 |
| ISSN: | 1932-6203 |
| DOI: | 10.1371/journal.pone.0212458 |
| Online-Zugang: | Verlag, Volltext: https://doi.org/10.1371/journal.pone.0212458 Verlag, Volltext: https://journals.plos.org/plosone/article?id=10.1371/journal.pone.0212458 
|
| Verfasserangaben: | Péter Monostori, Glynis Klinke, Jana Hauke, Sylvia Richter, Jörgen Bierau, Sven F. Garbade, Georg F. Hoffmann, Claus-Dieter Langhans, Dorothea Haas, Jürgen G. Okun |
MARC
| LEADER | 00000caa a2200000 c 4500 | ||
|---|---|---|---|
| 001 | 1668727811 | ||
| 003 | DE-627 | ||
| 005 | 20231116091310.0 | ||
| 007 | cr uuu---uuuuu | ||
| 008 | 190708s2019 xx |||||o 00| ||eng c | ||
| 024 | 7 | |a 10.1371/journal.pone.0212458 |2 doi | |
| 035 | |a (DE-627)1668727811 | ||
| 035 | |a (DE-599)KXP1668727811 | ||
| 035 | |a (OCoLC)1264082167 | ||
| 040 | |a DE-627 |b ger |c DE-627 |e rda | ||
| 041 | |a eng | ||
| 084 | |a 33 |2 sdnb | ||
| 100 | 1 | |a Monostori, Péter |e VerfasserIn |0 (DE-588)115672287X |0 (DE-627)1019663952 |0 (DE-576)502395451 |4 aut | |
| 245 | 1 | 0 | |a Extended diagnosis of purine and pyrimidine disorders from urine |b LC MS/MS assay development and clinical validation |c Péter Monostori, Glynis Klinke, Jana Hauke, Sylvia Richter, Jörgen Bierau, Sven F. Garbade, Georg F. Hoffmann, Claus-Dieter Langhans, Dorothea Haas, Jürgen G. Okun |
| 264 | 1 | |c February 28, 2019 | |
| 300 | |a 17 | ||
| 336 | |a Text |b txt |2 rdacontent | ||
| 337 | |a Computermedien |b c |2 rdamedia | ||
| 338 | |a Online-Ressource |b cr |2 rdacarrier | ||
| 500 | |a Gesehen am 08.07.2019 | ||
| 520 | |a Background and aims: Inborn errors of purine and pyrimidine metabolism are a diverse group of disorders with possible serious or life-threatening symptoms. They may be associated with neurological symptoms, renal stone disease or immunodeficiency. However, the clinical presentation can be nonspecific and mild so that a number of cases may be missed. Previously published assays lacked detection of certain diagnostically important biomarkers, including SAICAr, AICAr, beta-ureidoisobutyric acid, 2,8-dihydroxyadenine and orotidine, necessitating the use of separate assays for their detection. Moreover, the limited sensitivity for some analytes in earlier assays may have hampered the reliable detection of mild cases. Therefore, we aimed to develop a liquid chromatography-tandem mass spectrometry (LC-MS/MS) assay that allows the simultaneous and sensitive detection of an extended range of purine and pyrimidine biomarkers in urine. Methods: The assay was developed and validated using LC-MS/MS and clinically tested by analyzing ERNDIM Diagnostic Proficiency Testing (DPT) samples and further specimens from patients with various purine and pyrimidine disorders. Results: Reliable determination of 27 analytes including SAICAr, AICAr, beta-ureidoisobutyric acid, 2,8-dihydroxyadenine and orotidine was achieved in urine following a simple sample preparation. The method clearly distinguished pathological and normal samples and differentiated between purine and pyrimidine defects in all clinical specimens. Conclusions: A LC-MS/MS assay allowing the simultaneous, sensitive and reliable diagnosis of an extended range of purine and pyrimidine disorders has been developed. The validated method has successfully been tested using ERNDIM Diagnostic Proficiency Testing (DPT) samples and further clinical specimens from patients with various purine and pyrimidine disorders. Sample preparation is simple and assay duration is short, facilitating an easier inclusion of the assay into the diagnostic procedures. | ||
| 650 | 4 | |a Adenine | |
| 650 | 4 | |a Biomarkers | |
| 650 | 4 | |a Diagnostic medicine | |
| 650 | 4 | |a Inborn errors of metabolism | |
| 650 | 4 | |a Purine metabolism | |
| 650 | 4 | |a Purines | |
| 650 | 4 | |a Pyrimidines | |
| 650 | 4 | |a Urine | |
| 700 | 1 | |a Klinke, Glynis |d 1986- |e VerfasserIn |0 (DE-588)1120505895 |0 (DE-627)873446593 |0 (DE-576)480383197 |4 aut | |
| 700 | 1 | |a Garbade, Sven |d 1971- |e VerfasserIn |0 (DE-588)129234362 |0 (DE-627)707186889 |0 (DE-576)297554263 |4 aut | |
| 700 | 1 | |a Hoffmann, Georg F. |d 1957- |e VerfasserIn |0 (DE-588)115652868 |0 (DE-627)077386116 |0 (DE-576)261230042 |4 aut | |
| 700 | 1 | |a Langhans, Claus-Dieter |e VerfasserIn |0 (DE-588)1070637173 |0 (DE-627)824416813 |0 (DE-576)43217527X |4 aut | |
| 700 | 1 | |a Haas, Dorothea |d 1965- |e VerfasserIn |0 (DE-588)1038104505 |0 (DE-627)756671280 |0 (DE-576)392125196 |4 aut | |
| 700 | 1 | |a Okun, Jürgen G. |d 1968- |e VerfasserIn |0 (DE-588)121578232 |0 (DE-627)705551415 |0 (DE-576)292781296 |4 aut | |
| 773 | 0 | 8 | |i Enthalten in |t PLOS ONE |d San Francisco, California, US : PLOS, 2006 |g 14(2019,2) Artikel-Nummer e0212458, 17 Seiten |h Online-Ressource |w (DE-627)523574592 |w (DE-600)2267670-3 |w (DE-576)281331979 |x 1932-6203 |7 nnas |a Extended diagnosis of purine and pyrimidine disorders from urine LC MS/MS assay development and clinical validation |
| 773 | 1 | 8 | |g volume:14 |g year:2019 |g number:2 |g extent:17 |a Extended diagnosis of purine and pyrimidine disorders from urine LC MS/MS assay development and clinical validation |
| 856 | 4 | 0 | |u https://doi.org/10.1371/journal.pone.0212458 |x Verlag |x Resolving-System |3 Volltext |
| 856 | 4 | 0 | |u https://journals.plos.org/plosone/article?id=10.1371/journal.pone.0212458 |x Verlag |3 Volltext |
| 951 | |a AR | ||
| 992 | |a 20190708 | ||
| 993 | |a Article | ||
| 994 | |a 2019 | ||
| 998 | |g 121578232 |a Okun, Jürgen G. |m 121578232:Okun, Jürgen G. |d 910000 |d 910500 |e 910000PO121578232 |e 910500PO121578232 |k 0/910000/ |k 1/910000/910500/ |p 10 |y j | ||
| 998 | |g 1038104505 |a Haas, Dorothea |m 1038104505:Haas, Dorothea |d 910000 |d 910500 |e 910000PH1038104505 |e 910500PH1038104505 |k 0/910000/ |k 1/910000/910500/ |p 9 | ||
| 998 | |g 1070637173 |a Langhans, Claus-Dieter |m 1070637173:Langhans, Claus-Dieter |d 910000 |d 910500 |e 910000PL1070637173 |e 910500PL1070637173 |k 0/910000/ |k 1/910000/910500/ |p 8 | ||
| 998 | |g 115652868 |a Hoffmann, Georg F. |m 115652868:Hoffmann, Georg F. |d 910000 |d 910500 |e 910000PH115652868 |e 910500PH115652868 |k 0/910000/ |k 1/910000/910500/ |p 7 | ||
| 998 | |g 129234362 |a Garbade, Sven |m 129234362:Garbade, Sven |d 910000 |d 910500 |e 910000PG129234362 |e 910500PG129234362 |k 0/910000/ |k 1/910000/910500/ |p 6 | ||
| 998 | |g 1120505895 |a Klinke, Glynis |m 1120505895:Klinke, Glynis |d 910000 |d 910500 |e 910000PK1120505895 |e 910500PK1120505895 |k 0/910000/ |k 1/910000/910500/ |p 2 | ||
| 998 | |g 115672287X |a Monostori, Peter |m 115672287X:Monostori, Peter |d 910000 |d 910500 |e 910000PM115672287X |e 910500PM115672287X |k 0/910000/ |k 1/910000/910500/ |p 1 |x j | ||
| 999 | |a KXP-PPN1668727811 |e 3491859794 | ||
| BIB | |a Y | ||
| SER | |a journal | ||
| JSO | |a {"name":{"displayForm":["Péter Monostori, Glynis Klinke, Jana Hauke, Sylvia Richter, Jörgen Bierau, Sven F. Garbade, Georg F. Hoffmann, Claus-Dieter Langhans, Dorothea Haas, Jürgen G. Okun"]},"origin":[{"dateIssuedDisp":"February 28, 2019","dateIssuedKey":"2019"}],"recId":"1668727811","note":["Gesehen am 08.07.2019"],"language":["eng"],"person":[{"role":"aut","given":"Péter","family":"Monostori","display":"Monostori, Péter"},{"family":"Klinke","display":"Klinke, Glynis","role":"aut","given":"Glynis"},{"family":"Garbade","display":"Garbade, Sven","role":"aut","given":"Sven"},{"family":"Hoffmann","display":"Hoffmann, Georg F.","role":"aut","given":"Georg F."},{"display":"Langhans, Claus-Dieter","family":"Langhans","given":"Claus-Dieter","role":"aut"},{"given":"Dorothea","role":"aut","display":"Haas, Dorothea","family":"Haas"},{"role":"aut","given":"Jürgen G.","family":"Okun","display":"Okun, Jürgen G."}],"type":{"media":"Online-Ressource","bibl":"article-journal"},"relHost":[{"disp":"Extended diagnosis of purine and pyrimidine disorders from urine LC MS/MS assay development and clinical validationPLOS ONE","part":{"issue":"2","volume":"14","text":"14(2019,2) Artikel-Nummer e0212458, 17 Seiten","year":"2019","extent":"17"},"type":{"bibl":"periodical","media":"Online-Ressource"},"physDesc":[{"extent":"Online-Ressource"}],"title":[{"title_sort":"PLOS ONE","title":"PLOS ONE"}],"id":{"eki":["523574592"],"issn":["1932-6203"],"zdb":["2267670-3"]},"corporate":[{"display":"Public Library of Science","role":"isb"}],"origin":[{"publisherPlace":"San Francisco, California, US ; Lawrence, Kan.","publisher":"PLOS ; PLoS","dateIssuedDisp":"2006-","dateIssuedKey":"2006"}],"language":["eng"],"note":["Schreibweise des Titels bis 2012: PLoS ONE","Gesehen am 20.03.19"],"recId":"523574592","name":{"displayForm":["Public Library of Science"]},"pubHistory":["1.2006 -"]}],"physDesc":[{"extent":"17 S."}],"title":[{"title":"Extended diagnosis of purine and pyrimidine disorders from urine","title_sort":"Extended diagnosis of purine and pyrimidine disorders from urine","subtitle":"LC MS/MS assay development and clinical validation"}],"id":{"doi":["10.1371/journal.pone.0212458"],"eki":["1668727811"]}} | ||
| SRT | |a MONOSTORIPEXTENDEDDI2820 | ||