A case of epilepsy, movement disorders associated with a mutation in the PDHA1 gene in a preschool child

Razheva D.S.; Khondkaryan G.Sh.; Zavadenko N.N.

doi:https://doi.org/10.17116/jnevro202212209227

Razheva D.S.

Pirogov Russian National Medical University;
Sechenov Fist Moscow State Medical University (Sechenov University)

Khondkaryan G.Sh.

Pirogov Russian National Research Medical University

Zavadenko N.N.

Pirogov Russian National Research Medical University

ORCID: 0000-0003-0103-7422

A case of epilepsy, movement disorders associated with a mutation in the PDHA1 gene in a preschool child

Authors:

Razheva D.S., Khondkaryan G.Sh., Zavadenko N.N.

More about the authors

Journal: S.S. Korsakov Journal of Neurology and Psychiatry. 2022;122(9‑2): 27‑31

DOI: 10.17116/jnevro202212209227

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To cite this article:

Razheva DS, Khondkaryan GSh, Zavadenko NN. A case of epilepsy, movement disorders associated with a mutation in the PDHA1 gene in a preschool child. S.S. Korsakov Journal of Neurology and Psychiatry. 2022;122(9‑2):27‑31. (In Russ.)
https://doi.org/10.17116/jnevro202212209227

Подписка 2026 Журнал неврологии и психиатрии им. С.С. Корсакова. Спецвыпуски (S.S. Korsakov Journal of Neurology and Psychiatry (special issues))

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Abstract:

Deficiency of the pyruvate dehydrogenase complex E1-alpha subunit is a rare genetic disease with X-linked dominant inheritance. The clinical spectrum of the disease is extremely wide: from lethal forms in children of the first year of life with lactic acidosis to chronic neurological manifestations with structural changes in the central nervous system without increasing the level of lactate in the blood. The authors report a case of this disease in a preschool child and present the results of laboratory and instrumental studies. The importance of early diagnosis of the disease is emphasized.

Keywords:

children

pyruvate dehydrogenase complex

ataxia

epilepsy

movement disorders

Authors:

Razheva D.S.

Pirogov Russian National Medical University;
Sechenov Fist Moscow State Medical University (Sechenov University)

Khondkaryan G.Sh.

Pirogov Russian National Research Medical University

Zavadenko N.N.

Pirogov Russian National Research Medical University

ORCID: 0000-0003-0103-7422

Received:

14.07.2022

Accepted:

19.07.2022

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References:

Horga A, Woodward CE, Mills A, et al. Differential phenotypic expression of a novel PDHA1 mutation in a female monozygotic twin pair. Hum Genet. 2019;138(11-12):1313-1322. https://doi.org/10.1007/s00439-019-02075-9
Willemsen M, Rodenburg RJ, Teszas A, et al. Females with PDHA1 gene mutations: a diagnostic challenge. Mitochondrion. 2006 Jun;6(3):155-159. https://doi.org/10.1016/j.mito.2006.03.001
Lissens W, De Meirleir L, Seneca S, et al. Mutations in the X-linked pyruvate dehydrogenase (E1) alpha subunit gene (PDHA1) in patients with a pyruvate dehydrogenase complex deficiency. Human Mutation. 2000;15(3):209-219. https://doi.org/10.1002/(SICI)1098-1004(200003)15:3<209::AID-HUMU1>3.0.CO;2-K "> 3.0.CO;2-K" target="_blank">https://doi.org/10.1002/(SICI)1098-1004(200003)15:3<209::AID-HUMU1>3.0.CO;2-K
Ganetzky R, McCormick EM, Falk MJ. Primary Pyruvate Dehydrogenase Complex Deficiency Overview. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle;2021 Jun 17:1993-2022. https://www.ncbi.nlm.nih.gov/books/NBK571223
Patel KP, O’Brien TW, Subramony SH, et al. The spectrum of pyruvate dehydrogenase complex deficiency: clinical, biochemical and genetic features in 371 patients. Mol Genet Metab. 2012 Jul;106(3):385-394. https://doi.org/10.1016/j.ymgme.2011.09.032
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