Simultaneous determination of cystathionine, total homocysteine, and methionine in dried blood spots by liquid chromatography/tandem mass spectrometry and its utility for the management of patients with homocystinuria
Jazyk angličtina Země Nizozemsko Médium print-electronic
Typ dokumentu srovnávací studie, časopisecké články, randomizované kontrolované studie, práce podpořená grantem
PubMed
25086281
DOI
10.1016/j.cca.2014.07.028
PII: S0009-8981(14)00315-5
Knihovny.cz E-zdroje
- Klíčová slova
- Cystathionine, Dried blood spots, Homocysteine, LC–MS/MS, Methionine, Therapy monitoring,
- MeSH
- chromatografie kapalinová metody statistika a číselné údaje MeSH
- cystathionin krev MeSH
- dítě MeSH
- homocystein krev MeSH
- homocystinurie krev diagnóza MeSH
- kojenec MeSH
- lidé MeSH
- management nemoci MeSH
- methionin krev MeSH
- mladiství MeSH
- novorozenec MeSH
- předškolní dítě MeSH
- tandemová hmotnostní spektrometrie metody statistika a číselné údaje MeSH
- test suché kapky krve metody statistika a číselné údaje MeSH
- Check Tag
- dítě MeSH
- kojenec MeSH
- lidé MeSH
- mladiství MeSH
- mužské pohlaví MeSH
- novorozenec MeSH
- předškolní dítě MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- práce podpořená grantem MeSH
- randomizované kontrolované studie MeSH
- srovnávací studie MeSH
- Názvy látek
- cystathionin MeSH
- homocystein MeSH
- methionin MeSH
BACKGROUND: Disorders of homocysteine and B-vitamin metabolism represent a significant problem in clinical practice. Establishing the diagnosis requires specialized tests with demanding preanalytical requirements. To advance the detection of patients with these disorders, we developed a method for the simultaneous determination of cystathionine (Cysta), methionine (Met) and total homocysteine (tHcy) in dried blood spots (DBSs). METHODS: A punch from a DBS sample was mixed with a solution of isotopically labeled internal standards, and analytes were extracted using methanol/0.1% formic acid/0.5mol/L dithiothreitol. The extract was injected into an LC-MS/MS system operating in MRM mode. RESULTS: The analytical performance of the method employing DBS is adequate for its purpose and the type of sample. Compared with Cysta, tHcy and Met plasma levels, our method exhibited a negative bias between -3.8% and -42.2% due to the lower concentrations of these analytes in erythrocytes. The tHcy level and the Met/Cysta ratio in DBS enabled the clear detection of 12 patients with disorders of transsulfuration and with genetic and nutritional remethylation defects. CONCLUSIONS: The ease of collecting and transporting DBS samples may advance diagnostic procedures in patients with neuropsychiatric disorders and thromboembolism. Consequently, this approach may facilitate detection and simplify the monitoring of patients with homocystinuria.
Citace poskytuje Crossref.org
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