Prof. O.Yu. Sukhonosova, assoc. prof. O.L. Tondiy, assoc. prof. S.M. Korenev

Educational and Scientific Institute of Postgraduate Education of Kharkiv National Medical University Department of Neurology and Pediatric Neurology

The article summarizes the issues of modern classification, clinical course, manifestations, diagnosis and symptomatic treatment of hereditary metabolic diseases with damage to the nervous system.

Key words: hereditary diseases, aminoacid metabolism, enzymopathies, enzymopathies.

https://doi.org/10.15407/internalmed2024.01.063

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Cite:

Сухоносова, О.Ю. Спадкові хвороби обміну — погляд невролога (клінічна лекція) / О.Ю. Сухоносова, О.Л. Тондій, С.М. Коренєв // Східноєвропейський журнал внутрішньої та сімейної медицини. – 2024. – № 1. – С. 63-71. doi: 10.15407/internalmed2024.01.063

Sukhonosova OYu, Tondiy OL, Korenev SM. [Hereditary metabolic diseases — a neurologist’s view (clinical lecture)]. Shidnoevr. z. vnutr. simejnoi med. 2024;1:63-71. Ukrainian. doi: 10.15407/internalmed2024.01.063

References:

1. Baranov AA, Borovik TE, Ladodo KS, Grechanina EYa, et al. Nasledstvennye narusheniia obmena veshchestv. Kharkiv: 2014. 111 p.
2. Barashnev YuI, Bakhar’ev VA, Novikov PV. Diagnostika i lechenie vrozhdennoi i nasledstvennoi patologii u detei. Moscow: Triada-Kh; 2004. 560 p.
3. Brahina NV. Osoblyvosti neirogenetychnoho obstezhennia. In: Martyniuk VYu, Zinchenko SM, editors. Osnovy medyko-sotsialnoi reabilitatsii ditei z orhanichnym urazhennian nervovoi systemy. Kyiv: Intermed; 2009. p. 47-54.
4. Grechanina YuB, Grechanina EYa, Beletskaia SV. Metabolicheskie bolezni. Kharkiv: KhNMU; 2016. 203 p.
5. Diagnostika i lechenie nasledstvennykh zabolevanii nervnoi sistemy u detei (rukovodstvo dlia vrachei). Zykov VP, editor. Moscow: Triada-Kh; 2008. 224 p.
6. Petrukhin AS, Mikhailova SV, Zakharova EYu. Neiro-metabolicheskie zabolevaniia u detei i podrostkov. Diagnostika i podkhody k lecheniiu. 2016. 352 p.
7. Zschocke J, Hoffmann GF. Vademecum Metabolicum. Printillogy; 2013. 174 p.
8. Genni khvoroby. Available from: http://pidruchniki.com/69187/meditsina/genni_hvorobi
9. Spadkovi khvoroby obminu rechovyn. Available from: http://pidruchniki.com/12430205/meditsina/spadkovi_hvorobi_obminu_rechovyn
10. Nasledstvennye bolezni obmena veshchestv. Available from: http://medbib.in.ua/nasledstvennyie-bolezni-obmena-veschestv.html