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
Language English Country Netherlands Media print-electronic
Document type Comparative Study, Journal Article, Randomized Controlled Trial, Research Support, Non-U.S. Gov't
PubMed
25086281
DOI
10.1016/j.cca.2014.07.028
PII: S0009-8981(14)00315-5
Knihovny.cz E-resources
- Keywords
- Cystathionine, Dried blood spots, Homocysteine, LC–MS/MS, Methionine, Therapy monitoring,
- MeSH
- Chromatography, Liquid methods statistics & numerical data MeSH
- Cystathionine blood MeSH
- Child MeSH
- Homocysteine blood MeSH
- Homocystinuria blood diagnosis MeSH
- Infant MeSH
- Humans MeSH
- Disease Management MeSH
- Methionine blood MeSH
- Adolescent MeSH
- Infant, Newborn MeSH
- Child, Preschool MeSH
- Tandem Mass Spectrometry methods statistics & numerical data MeSH
- Dried Blood Spot Testing methods statistics & numerical data MeSH
- Check Tag
- Child MeSH
- Infant MeSH
- Humans MeSH
- Adolescent MeSH
- Male MeSH
- Infant, Newborn MeSH
- Child, Preschool MeSH
- Female MeSH
- Publication type
- Journal Article MeSH
- Research Support, Non-U.S. Gov't MeSH
- Randomized Controlled Trial MeSH
- Comparative Study MeSH
- Names of Substances
- Cystathionine MeSH
- Homocysteine MeSH
- Methionine 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.
References provided by Crossref.org
Guidelines for the diagnosis and management of cystathionine beta-synthase deficiency
