Email this article Glutaric aciduria type 1 in children. Clinical presentation of 46 cases in Russian families
- Authors: Mikhailova S.V.1, Saifullina E.V.2, Baranova P.V.3, Vorontsova V.P.1, Gribov D..1, Zhivihina M.V.1, Slatetskaya A.N.1, Magzhanov R..2, Samokhvalov V.A.4, Virtseva M..5, Borscheva L.P.6, Koh E..6, Novikova M.V.7, Abrukova A.V.8, Belyashova E.Y.9, Gerasimenko N..10, Guseva L.V.10, Yukhimenko Z.V.11, Nikitina N.V.12, Belyaeva T..12, Shkurko T.A.13, Pichkur N.A.13, Kakaulina V.S.14,15, Pechatnikova N.L.14, Polyakova N..14, Korostelev S.A.15, Pyankov D..16, Kanivets I..16,17, Demina N.A.3, Pyrkova E.Y.3, Baidakova G.V.3, Kurkina M..3, Zakharova E.Y.3
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Affiliations:
- Russian Children’s Clinical Hospital of the Federal Autonomous Educational Institute of Higher Education, Russian National Medical Research University named after N.I. Pyrogov, Ministry of Health of Russia
- Bashkir State Medical University
- Medical Genetic Research Center named after N.P. Bochkov
- Amur Regional Clinical Hospital. Medical Genetic Consultation
- City Polyclinic No. 14 of the city of Rostov-on-Don
- Krasnoyarsk Regional Medical-Genetic Center
- Medical Genetic Consultation “DCD CD and CSS”
- Presidential Perinatal Center
- Orenburg Regional Clinical Hospital No. 2, Medical Genetic Consultation
- Regional Clinical Hospital of the Omsk region
- Tula Children’s Regional Clinical Hospital
- Clinical and Diagnostic Center of Sverdlovsk region, “Maternal and Child Health Protection”
- Orphan Diseases Center NCSH “OKHMATDET”
- Morozovskaya Children’s City Clinical Hospital of the Department of Healthcare of the City of Moscow
- Institute of Pediatric Neurology and Epilepsy named after Saint Luke
- Medical Genetic Center “Genomed”
- Russian Medical Academy of Continuing Professional Education of the Ministry of Russia
- Issue: Vol 11, No 2 (2021)
- Pages: 61-79
- Section: CLINICAL DISCUSSION
- Published: 13.09.2021
- URL: https://nmb.abvpress.ru/jour/article/view/451
- DOI: https://doi.org/10.17650/2222-8721-2021-11-2-61-79
- ID: 451
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Abstract
Background. Glutaric aciduria type 1 is an autosomal recessive disease caused by mutations in the GCDH gene, which encodes the enzyme glutaryl‑CoA dehydrogenase. Metabolic crisis in type 1 glutaric aciduria is an acute life‑threatening condition that requires careful diagnosis with a number of other conditions and the immediate initiation of pathogenetic therapy.
Materials and methods. Clinical manifestations, neuroimaging characteristics of the disease were studied in 46 patients with diagnosed glutaric aciduria type 1 confirmed by biochemical and molecular genetic methods. Methods: gas chromatography with mass spectrometry, tandem mass spectrometry, Sanger sequencing, chromosomal microarray analysis of the exon level.
Results and discussion. A retrospective analysis of anamnestic and clinical data was carried out, and the nature and age of disease manifestation, provoking factors, a spectrum of clinical manifestations and neuroimaging data were assessed.
Conclusion. How initiated treatment prevents progression of neurological symptom relief and patient adaptation. With the help of the goal, it is necessary to inform pediatricians, neurologists and neuroradiologists about this feature of the course of glutaric aciduria type 1 in order to increase the clinical alertness of this disease.
About the authors
S. V. Mikhailova
Russian Children’s Clinical Hospital of the Federal Autonomous Educational Institute of Higher Education, Russian National Medical Research University named after N.I. Pyrogov, Ministry of Health of Russia
Author for correspondence.
Email: svetychvital@mail.ru
Svetlana Vitalievna Mikhailova
117 Leninsky Prospect, Moscow 119571
Russian FederationE. V. Saifullina
Bashkir State Medical University
Email: fake@neicon.ru
3 Lenina St., Ufa 450008
BahamasP. V. Baranova
Medical Genetic Research Center named after N.P. Bochkov
Email: fake@neicon.ru
1 Moskvorechye St., Moscow 115522
Russian FederationV. P. Vorontsova
Russian Children’s Clinical Hospital of the Federal Autonomous Educational Institute of Higher Education, Russian National Medical Research University named after N.I. Pyrogov, Ministry of Health of Russia
Email: fake@neicon.ru
117 Leninsky Prospect, Moscow 119571
Russian FederationD. I. Gribov
Russian Children’s Clinical Hospital of the Federal Autonomous Educational Institute of Higher Education, Russian National Medical Research University named after N.I. Pyrogov, Ministry of Health of Russia
Email: fake@neicon.ru
117 Leninsky Prospect, Moscow 119571
Russian FederationM. V. Zhivihina
Russian Children’s Clinical Hospital of the Federal Autonomous Educational Institute of Higher Education, Russian National Medical Research University named after N.I. Pyrogov, Ministry of Health of Russia
Email: fake@neicon.ru
117 Leninsky Prospect, Moscow 119571
Russian FederationA. N. Slatetskaya
Russian Children’s Clinical Hospital of the Federal Autonomous Educational Institute of Higher Education, Russian National Medical Research University named after N.I. Pyrogov, Ministry of Health of Russia
Email: fake@neicon.ru
117 Leninsky Prospect, Moscow 119571
Russian FederationR. V. Magzhanov
Bashkir State Medical University
Email: fake@neicon.ru
3 Lenina St., Ufa 450008
Russian FederationV. A. Samokhvalov
Amur Regional Clinical Hospital. Medical Genetic Consultation
Email: fake@neicon.ru
26 Voronkova St., Blagoveshchensk 675028
Russian FederationM. N. Virtseva
City Polyclinic No. 14 of the city of Rostov-on-Don
Email: fake@neicon.ru
458 Portovaya St., Rostov-on-Don 344033
Russian FederationL. P. Borscheva
Krasnoyarsk Regional Medical-Genetic Center
Email: fake@neicon.ru
7 Molokova St., Krasnoyarsk 660077
Russian FederationE. E. Koh
Krasnoyarsk Regional Medical-Genetic Center
Email: fake@neicon.ru
7 Molokova St., Krasnoyarsk 660077
Russian FederationM. V. Novikova
Medical Genetic Consultation “DCD CD and CSS”
Email: fake@neicon.ru
69/1 Lenina Prospect, Surgut 628416
Russian FederationA. V. Abrukova
Presidential Perinatal Center
Email: fake@neicon.ru
9 b. 1 Moskovsky Prospekt, Cheboksary 428018
Russian FederationE. Yu. Belyashova
Orenburg Regional Clinical Hospital No. 2, Medical Genetic Consultation
Email: fake@neicon.ru
24 Nevelskaya St., Orenburg 460000
Russian FederationN. Yu. Gerasimenko
Regional Clinical Hospital of the Omsk region
Email: fake@neicon.ru
3 Berezovaya St., Omsk 644111
Russian FederationL. V. Guseva
Regional Clinical Hospital of the Omsk region
Email: fake@neicon.ru
3 Berezovaya St., Omsk 644111
Russian FederationZh. V. Yukhimenko
Tula Children’s Regional Clinical Hospital
Email: fake@neicon.ru
39 Bondarenko St., Tula 300010
Russian FederationN. V. Nikitina
Clinical and Diagnostic Center of Sverdlovsk region, “Maternal and Child Health Protection”
Email: fake@neicon.ru
52 Flotskaya St., Yekaterinburg 620041
Russian FederationT. I. Belyaeva
Clinical and Diagnostic Center of Sverdlovsk region, “Maternal and Child Health Protection”
Email: fake@neicon.ru
52 Flotskaya St., Yekaterinburg 620041
Russian FederationT. A. Shkurko
Orphan Diseases Center NCSH “OKHMATDET”
Email: fake@neicon.ru
28/1 Vyacheslava Chernovola St., Kiev 01135
UkraineN. A. Pichkur
Orphan Diseases Center NCSH “OKHMATDET”
Email: fake@neicon.ru
28/1 Vyacheslava Chernovola St., Kiev 01135
UkraineV. S. Kakaulina
Morozovskaya Children’s City Clinical Hospital of the Department of Healthcare of the City of Moscow; Institute of Pediatric Neurology and Epilepsy named after Saint Luke
Email: fake@neicon.ru
1/9 4th Dobryninsky Lane, Moscow 119049
5 Nagornaya St., Moscow, Troitsk 142191
Russian FederationN. L. Pechatnikova
Morozovskaya Children’s City Clinical Hospital of the Department of Healthcare of the City of Moscow
Email: fake@neicon.ru
1/9 4th Dobryninsky Lane, Moscow 119049
Russian FederationN . A. Polyakova
Morozovskaya Children’s City Clinical Hospital of the Department of Healthcare of the City of Moscow
Email: fake@neicon.ru
1/9 4th Dobryninsky Lane, Moscow 119049
Russian FederationS. A. Korostelev
Institute of Pediatric Neurology and Epilepsy named after Saint Luke
Email: fake@neicon.ru
5 Nagornaya St., Moscow, Troitsk 142191
Russian FederationD. V. Pyankov
Medical Genetic Center “Genomed”
Email: fake@neicon.ru
Build. 5, 8 Podolskoe Shosse, Moscow 115093
Russian FederationI. V. Kanivets
Medical Genetic Center “Genomed”; Russian Medical Academy of Continuing Professional Education of the Ministry of Russia
Email: fake@neicon.ru
Build. 5, 8 Podolskoe Shosse, Moscow 115093
Build. 1, 2/1 Barrikadnaya St., Moscow 125993
Russian FederationN. A. Demina
Medical Genetic Research Center named after N.P. Bochkov
Email: fake@neicon.ru
1 Moskvorechye St., Moscow 115522
Russian FederationE. Yu. Pyrkova
Medical Genetic Research Center named after N.P. Bochkov
Email: fake@neicon.ru
1 Moskvorechye St., Moscow 115522
Russian FederationG. V. Baidakova
Medical Genetic Research Center named after N.P. Bochkov
Email: fake@neicon.ru
1 Moskvorechye St., Moscow 115522
Russian FederationM. V. Kurkina
Medical Genetic Research Center named after N.P. Bochkov
Email: kurkina_marina87@mail.ru
Marina Vladimirovna Kurkina
1 Moskvorechye St., Moscow 115522
Russian FederationE. Yu. Zakharova
Medical Genetic Research Center named after N.P. Bochkov
Email: fake@neicon.ru
1 Moskvorechye St., Moscow 115522
Russian FederationReferences
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