Determination of the reference values of amino acids and acylcarnitines level in the newborn dry blood spots in Ukraine
Journal Title: Вісник Українського товариства генетиків і селекціонерів - Year 2018, Vol 16, Issue 1
Abstract
Aim. Implementation of neonatal screening of the group of severe inherited disorders of amino acids, fatty and organic acids metabolism in Ukraine involves determination of the biological variation of amino acids and acylcarnitines level in the blood that depends on the gender, geographical origin of the samples and the gestation term of newborn. Methods. The main method of rapid and reliable diagnosis of this group of inherited disorders is determination of amino acids and acylcarnitines level by liquid chromatography tandem mass spectrometry. Results. Reference intervals of amino acids and acylcarnitines concentration in dry blood samples of newborns from different regions of Ukraine haven’t differed. However, it was found necessity to use separate reference intervals of some amino acids and acylсarnitines (citrulline, arginine, methionine, leucine, tyrosine, alanine, histidine, C0, C3, C3DC, C4, C5, C6, C8, C8:1, C10:2, C12, C14:1, C16, C18OH, C18:1OH) for premature and full-term newborns. Also, it was revealed that for male and female newborns it is necessary to use different reference intervals of citrulline, leucine, C8:1, arginine, methionine, C5, C8. Conclusions. In this study it was found that variation of amino acids and acylcarnitines concentration in dry blood spots depends on the newborns gestation term and sex. We have proposed a two-stage procedure of biomarkers interpretation for which the values variation in different neonatal groups was detected. Keywords: amino acids and acylcarnitines reference intervals, inherited disorders of amino acids, fatty and organic acids metabolism, newborn screening.
Authors and Affiliations
O. I. Barvinska, N. V. Olkhovych, N. G. Gorovenko
Keywords
Related Articles
- EP ID EP613178
- DOI 10.7124/visnyk.utgis.16.1.898
- Views 104
- Downloads 0
Adhesion proteins are able to controle the proliferation and size of neonatal cardiomoycytes in Mus musculus
Aim. In our present work, we have analyzed the influence of adhesion proteins — catenins on the proliferation of neonatal cardiomyocytes, under there cardiac-specific knockout. Methods. The studies were conducted using m...
Cardiospecific deletion of β-catenin gene associated with an activity violation of signaling cascades involved in the development of myocardial hypertrophy
The aim of our study was to investigate the molecular mechanisms of hypertrophy response under cardiospecific β-catenin haploinsufficiency condition. Materials and methods. Studies were done with β-catenin condtional kno...
Біомін – потенційний матрикс для створення імплантатів кісткової тканини нового покоління
Створення імплантатів нового покоління або комбінованих імплантатів - є надзвичайно перспективним напрямком регенеративної медицини. Такі імплантати є поєднанням досягнень сучасного матеріалознавства та клітинної біологі...
Лідія Степанівна Боднар (до 60-річчя від дня народження)
"Magic Wand" of biology – the gift of a monk from Brno. On the 150th anniversary of the publication of the work of G. Mendel "Experiments on Plant Hybrids"
The paper presents the biographical data of Gregor Mendel, the founder of modern genetics, and discusses the role of his article "Experiments on Plant Hybrids" as the scientific work, which has become one of the key fact...