Two clinical cases of glutaric aciduria type I in the Republic of Bashkortostan

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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.
Russian Federation, Ufa

Rim V. Magzhanov

Bashkir State Medical University

Russian Federation, Ufa

Anzhelika I. Davletova

Republican Clinical Hospital named after G.G. Kuvatov

Russian Federation, Ufa

Al’bina K. Mardanova

Bashkir State Medical University;Republican Medical Genetic Center

Russian Federation, Ufa

Ekaterina A. Timofeyeva

Republican Medical Genetic Center

Russian Federation, Ufa

Marina V. Kurkina

Research Centre for Medical Genetics

Russian Federation, Moscow

Ekaterina Yu. Zakharova

Research Centre for Medical Genetics

Russian Federation, Moscow


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Copyright (c) 2020 Saifullina E.V., Magzhanov R.V., Davletova A.I., Mardanova A.K., Timofeyeva E.A., Kurkina M.V., Zakharova E.Y.

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