Glutaric aciduria type 1 in children. Clinical presentation of 46 cases in Russian families
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...
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2021-09-01
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| author | S. V. Mikhailova E. V. Saifullina P. V. Baranova V. P. Vorontsova D. I. Gribov M. V. Zhivihina A. N. Slatetskaya R. V. Magzhanov V. A. Samokhvalov M. N. Virtseva L. P. Borscheva E. E. Koh M. V. Novikova A. V. Abrukova E. Yu. Belyashova N. Yu. Gerasimenko L. V. Guseva Zh. V. Yukhimenko N. V. Nikitina T. I. Belyaeva T. A. Shkurko N. A. Pichkur V. S. Kakaulina N. L. Pechatnikova N . A. Polyakova S. A. Korostelev D. V. Pyankov I. V. Kanivets N. A. Demina E. Yu. Pyrkova G. V. Baidakova M. V. Kurkina E. Yu. Zakharova |
| author_facet | S. V. Mikhailova E. V. Saifullina P. V. Baranova V. P. Vorontsova D. I. Gribov M. V. Zhivihina A. N. Slatetskaya R. V. Magzhanov V. A. Samokhvalov M. N. Virtseva L. P. Borscheva E. E. Koh M. V. Novikova A. V. Abrukova E. Yu. Belyashova N. Yu. Gerasimenko L. V. Guseva Zh. V. Yukhimenko N. V. Nikitina T. I. Belyaeva T. A. Shkurko N. A. Pichkur V. S. Kakaulina N. L. Pechatnikova N . A. Polyakova S. A. Korostelev D. V. Pyankov I. V. Kanivets N. A. Demina E. Yu. Pyrkova G. V. Baidakova M. V. Kurkina E. Yu. Zakharova |
| author_sort | S. V. Mikhailova |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-7260ea8a4de74abc9f7f0ad19298c84e |
| institution | Kabale University |
| issn | 2222-8721 2413-0443 |
| language | Russian |
| publishDate | 2021-09-01 |
| publisher | ABV-press |
| record_format | Article |
| series | Нервно-мышечные болезни |
| spelling | doaj-art-7260ea8a4de74abc9f7f0ad19298c84e2025-08-20T03:37:12ZrusABV-pressНервно-мышечные болезни2222-87212413-04432021-09-01112617910.17650/2222-8721-2021-11-2-61-79300Glutaric aciduria type 1 in children. Clinical presentation of 46 cases in Russian familiesS. V. Mikhailova0E. V. Saifullina1P. V. Baranova2V. P. Vorontsova3D. I. Gribov4M. V. Zhivihina5A. N. Slatetskaya6R. V. Magzhanov7V. A. Samokhvalov8M. N. Virtseva9L. P. Borscheva10E. E. Koh11M. V. Novikova12A. V. Abrukova13E. Yu. Belyashova14N. Yu. Gerasimenko15L. V. Guseva16Zh. V. Yukhimenko17N. V. Nikitina18T. I. Belyaeva19T. A. Shkurko20N. A. Pichkur21V. S. Kakaulina22N. L. Pechatnikova23N . A. Polyakova24S. A. Korostelev25D. V. Pyankov26I. V. Kanivets27N. A. Demina28E. Yu. Pyrkova29G. V. Baidakova30M. V. Kurkina31E. Yu. Zakharova32Russian 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 RussiaBashkir State Medical UniversityMedical Genetic Research Center named after N.P. BochkovRussian 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 RussiaRussian 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 RussiaRussian 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 RussiaRussian 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 RussiaBashkir State Medical UniversityAmur Regional Clinical Hospital. Medical Genetic ConsultationCity Polyclinic No. 14 of the city of Rostov-on-DonKrasnoyarsk Regional Medical-Genetic CenterKrasnoyarsk Regional Medical-Genetic CenterMedical Genetic Consultation “DCD CD and CSS”Presidential Perinatal CenterOrenburg Regional Clinical Hospital No. 2, Medical Genetic ConsultationRegional Clinical Hospital of the Omsk regionRegional Clinical Hospital of the Omsk regionTula Children’s Regional Clinical HospitalClinical and Diagnostic Center of Sverdlovsk region, “Maternal and Child Health Protection”Clinical and Diagnostic Center of Sverdlovsk region, “Maternal and Child Health Protection”Orphan Diseases Center NCSH “OKHMATDET”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 LukeMorozovskaya Children’s City Clinical Hospital of the Department of Healthcare of the City of MoscowMorozovskaya Children’s City Clinical Hospital of the Department of Healthcare of the City of MoscowInstitute of Pediatric Neurology and Epilepsy named after Saint LukeMedical Genetic Center “Genomed”Medical Genetic Center “Genomed”; Russian Medical Academy of Continuing Professional Education of the Ministry of RussiaMedical Genetic Research Center named after N.P. BochkovMedical Genetic Research Center named after N.P. BochkovMedical Genetic Research Center named after N.P. BochkovMedical Genetic Research Center named after N.P. BochkovMedical Genetic Research Center named after N.P. BochkovBackground. 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.https://nmb.abvpress.ru/jour/article/view/451glutaric acidemia (aciduria) type 1clinical signsclinical neuroimaging characteristicsmacrocephalymagnetic resonance imaginingneonatal screening |
| spellingShingle | S. V. Mikhailova E. V. Saifullina P. V. Baranova V. P. Vorontsova D. I. Gribov M. V. Zhivihina A. N. Slatetskaya R. V. Magzhanov V. A. Samokhvalov M. N. Virtseva L. P. Borscheva E. E. Koh M. V. Novikova A. V. Abrukova E. Yu. Belyashova N. Yu. Gerasimenko L. V. Guseva Zh. V. Yukhimenko N. V. Nikitina T. I. Belyaeva T. A. Shkurko N. A. Pichkur V. S. Kakaulina N. L. Pechatnikova N . A. Polyakova S. A. Korostelev D. V. Pyankov I. V. Kanivets N. A. Demina E. Yu. Pyrkova G. V. Baidakova M. V. Kurkina E. Yu. Zakharova Glutaric aciduria type 1 in children. Clinical presentation of 46 cases in Russian families Нервно-мышечные болезни glutaric acidemia (aciduria) type 1 clinical signs clinical neuroimaging characteristics macrocephaly magnetic resonance imagining neonatal screening |
| title | Glutaric aciduria type 1 in children. Clinical presentation of 46 cases in Russian families |
| title_full | Glutaric aciduria type 1 in children. Clinical presentation of 46 cases in Russian families |
| title_fullStr | Glutaric aciduria type 1 in children. Clinical presentation of 46 cases in Russian families |
| title_full_unstemmed | Glutaric aciduria type 1 in children. Clinical presentation of 46 cases in Russian families |
| title_short | Glutaric aciduria type 1 in children. Clinical presentation of 46 cases in Russian families |
| title_sort | glutaric aciduria type 1 in children clinical presentation of 46 cases in russian families |
| topic | glutaric acidemia (aciduria) type 1 clinical signs clinical neuroimaging characteristics macrocephaly magnetic resonance imagining neonatal screening |
| url | https://nmb.abvpress.ru/jour/article/view/451 |
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