Enzymatic diagnosis of homocystinuria by determination of cystathionine-beta-synthase activity in plasma using LC-MS/MS

Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11110%2F15%3A10294486" target="_blank" >RIV/00216208:11110/15:10294486 - isvavai.cz</a>
Alternative codes found
RIV/00064165:_____/15:10294486
Result on the web
<a href="http://dx.doi.org/10.1016/j.cca.2014.09.009" target="_blank" >http://dx.doi.org/10.1016/j.cca.2014.09.009</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1016/j.cca.2014.09.009" target="_blank" >10.1016/j.cca.2014.09.009</a>

Result language
angličtina
Original language name
Enzymatic diagnosis of homocystinuria by determination of cystathionine-beta-synthase activity in plasma using LC-MS/MS
Original language description
Background: Cystathionine beta-synthase (CBS) is released into plasma from organs expressing this enzyme. Decreased plasma CBS activity has been demonstrated in CBS-deficient patients with 16 different genotypes. The aim of this study was to determine plasma CBS activity in patients carrying 11 additional genotypes using two LC-MS/MS methods. Patients and methods CBS activity was measured in EDTA or heparin plasma using either a previously described or a newly developed LC-MS/MS method optimized for analysis of the reaction product, 3,3-H-2(2)-cystathionine, as its butyl ester derivative. We analyzed plasma samples from 26 CBS-deficient patients with known genotypes and 57 controls. Results: We developed a new LC-MS/MS method for simple and sensitive determination of CBS activity. Plasma CBS activity was low (i.e., 0.001-0.036 of the multiples of median control values, MOM) in patients homozygous for the prevalent Hispanic mutation c572C>T (p.T191M) but was highly elevated (2.95 MoM) i
Czech name
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Czech description
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Type
J<sub>x</sub> - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)
CEP classification
FG - Paediatrics
OECD FORD branch
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Project
<a href="/en/project/NT14159" target="_blank" >NT14159: Plasma activities of intracellular enzymes in selected inborn errors of metabolism - suitability for diagnosis and for predicting responsiveness to therapy.</a><br>
Continuities
I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Publication year
2015
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

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