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Two clinical cases of glutaric aciduria type I in the Republic of Bashkortostan
- Authors: Saifullina E.V.1,2, Magzhanov R.V.1, Davletova A.I.3, Mardanova A.K.1,2, Timofeyeva E.A.2, Kurkina M.V.4, Zakharova E.Y.4
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Affiliations:
- Bashkir State Medical University
- Republican Medical Genetic Center
- Republican Clinical Hospital named after G.G. Kuvatov
- Research Centre for Medical Genetics
- Issue: Vol 14, No 2 (2020)
- Pages: 88-92
- Section: Clinical analysis
- Submitted: 12.06.2020
- Published: 24.06.2020
- URL: https://annaly-nevrologii.com/journal/pathID/article/view/664
- DOI: https://doi.org/10.25692/ACEN.2020.2.12
- ID: 664
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Abstract
Glutaric aciduria type I is an autosomal recessive disease caused by mutations in the GCDH gene, which encodes the glutaryl-CoA-dehydrogenase enzyme. A lack of this enzyme leads to the accumulation of glutaric and 3-OH-glutaric (3-hydroxyglutaric) acids in biological fluids and tissues, which have a neurotoxic effect primarily on subcortical brain structures. We present two clinical cases of glutaric aciduria type I in children diagnosed after developing neurological symptoms. One patient had acute disease onset in the form of an encephalopathic crisis, which is typical for most clinical cases of the disease. The other patient developed subacute symptoms. Generalized dystonic hyperkinesia was a key sign of the disease in both patients. Information from the medical history and clinical presentation, together with the neuroimaging results, enabled us to suspect the right diagnosis and to confirm it using biochemical and then molecular genetic tests. In both cases, despite diet therapy using a specialized medicinal product, the patients continued to have motor disturbances.
About the authors
Elena V. Saifullina
Bashkir State Medical University;Republican Medical Genetic Center
Author for correspondence.
Email: riledin@mail.ru
Россия, Ufa
Rim V. Magzhanov
Bashkir State Medical University
Email: riledin@mail.ru
Россия, Ufa
Anzhelika I. Davletova
Republican Clinical Hospital named after G.G. Kuvatov
Email: riledin@mail.ru
Россия, Ufa
Al’bina K. Mardanova
Bashkir State Medical University;Republican Medical Genetic Center
Email: riledin@mail.ru
Россия, Ufa
Ekaterina A. Timofeyeva
Republican Medical Genetic Center
Email: riledin@mail.ru
Россия, Ufa
Marina V. Kurkina
Research Centre for Medical Genetics
Email: riledin@mail.ru
Россия, Moscow
Ekaterina Yu. Zakharova
Research Centre for Medical Genetics
Email: riledin@mail.ru
Россия, Moscow
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СМИ зарегистрировано Федеральной службой по надзору в сфере связи, информационных технологий и массовых коммуникаций (Роскомнадзор).