Evaluation of mass spectrometric indicators for the differential diagnosis of inherited disorders of organic acid metabolism in children
| Autor: | I. S. Mamedov, V. S. Sukhorukov, I. V. Zolkina, M. I. Savina, E. A. Nikolaeva |
|---|---|
| Jazyk: | ruština |
| Rok vydání: | 2019 |
| Předmět: |
amino acids
Chromatography Chemistry Urine Mass spectrometry medicine.disease hereditary metabolic diseases fatty acids Pediatrics gas chromatography-mass spectrometry RJ1-570 Reference intervals Age groups children reference intervals Organic acidemia Pediatrics Perinatology and Child Health organic acids medicine Gas chromatography Gas chromatography–mass spectrometry Biochemical markers |
| Zdroj: | Rossijskij Vestnik Perinatologii i Pediatrii, Vol 64, Iss 1, Pp 61-67 (2019) |
| ISSN: | 2500-2228 1027-4065 |
| Popis: | The objective. To calculate the reference intervals of the content of organic acids in the urine of the children of different age groups based on the results of gas chromatography with mass spectrometry; to find out their diagnostic value as biochemical markers of organic acidemia and other metabolic disorders. Materials and methods. The group consisted of 80 children with suspected organic acidemia. The control group consisted of 443 practically healthy children of different ages. The urine samples were analyzed for the content of 28 organic by gas chromatography with mass spectrometry. The results. The authors established reference intervals of 28 organic urine acids. The differences in the reference intervals defined in this work were isolated from those obtained in other studies. There were identified 37 children with abnormalities in the spectrum of organic acids according to the results of the analysis of the urine samples of patients by gas chromatography-mass spectrometry. 23 patients were diagnosed with various forms of organic acidemia on the basis of characteristic clinical and laboratory data and changes in the indicators of organic acids. The conclusion. The method of gas chromatography with mass spectrometry has proved its effectiveness and reliability for the diagnosis of hereditary diseases from the group of organic acidemias. |
| Databáze: | OpenAIRE |
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