Effectiveness of qualifying diagnostics of hereditary metabolic diseases with the use of gas chromatography / mass spectrometry by the example of the HHH syndrome
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Date
2014-06
Authors
Grechanina, Elena
Grechanina, Juliya
Zdybska, Olena
Kaniuka, Maksim
Molodan, Ludmila
Senatorova, Ganna
Journal Title
Journal ISSN
Volume Title
Publisher
Abstract
In the process of specifying diagnosis of hereditary metabolic diseases,
among others, we use gas chromatography / mass spectrometry. Diagnostic significance of this
method was high. On the example of HHH syndrome with hyperornithinemia –
hyperammonemia – homocitrullinuria shows the need to use this method in all cases with of
episodes of hyperammonemia, there are indications of the disease in the early childhood on the
background of triggers (infection).
Description
The study performed has demonstrated the high effectiveness of GC/MS in
qualifying diagnostics of HMD provided classical methods of clinical genetics (detailed information about the case history and life of the family, analysis of ancestry, and quality somato-genetical investigation with a syndromological analysis) are combined with advanced hitech
methods.For unambiguous prognosis of progeny in this family, preconception preventive treatment and molecular-genetic investigations of mutations associated with the HHH syndrome are conducted.
Keywords
HHH syndrome, hyperornithinemia, hyperammonemia, gas chromatography-mass spectrometry, homocitrullinuria, thrombophilia, rare diseases
Citation
Effectiveness of qualifying diagnostics of hereditary metabolic diseases with the use of gas chromatography / mass spectrometry by the example of the HHH syndrome / E. Ya. Grechanina, Yu. B. Grechanina, O. P. Zdybska, M. V. Kaniuka, L. V. Molodan, G. S. Senatorova // British Journal of Science, Education and Culture. – 2014. – № 1 (5), vol. 3. – Р. 245–256.