A case of pyruvate dehydrogenase complex deficiency in a young child
Bogdanuants M.V.
Background: The relevance of studying pyruvate dehydrogenase complex deficiency is attributable to the extreme rarity of the disease, the wide variability of clinical manifestations, and the need for timely diagnosis to prevent progressive neurological disorders.
Description of the clinical case: The case of severe psychomotor delay, seizure-like disturbances of consciousness, and myopathy in a three-year-old child is presented. The diagnosis was confirmed by laboratory tests revealing elevated lactate levels and decreased pyruvate dehydrogenase activity, as well as molecular genetic testing, which identified a pathogenic heterozygous variant in exon 11 of the PDHA1 gene, resulting in a missense substitution. Early diagnosis allowed for timely initiation of specific treatment and achieved positive dynamics in the patient’s condition.
Conclusion: A detailed analysis of individual cases of rare diseases helps practicing physicians more quickly recognize symptoms, properly organize the diagnostic process, and prescribe effective therapy that improves prognosis and enhances quality of life.
For citations: Bogdanuants M.V. A case of pyruvate dehydrogenase complex deficiency in a young child. Pharmateca. 2026;33(3):134-139. (In Russ.). DOI: https://dx.doi.org/10.18565/pharmateca.2026.3.134-139
Authors’ contribution: Concept and design of the study, collection and processing of material, writing of the text, editing – M.V. Bogdanuants.
Conflicts of interest: The authors confirm that they have no conflicts of interest to declare.
Funding: The study was conducted without any sponsorship.
Patient Consent for Publication: The retrospective analysis did not require informed consent from patients for statistical processing of anonymized data for subsequent publication.
Keywords
child
mitochondrial diseases
pyruvate dehydrogenase deficiency
seizure syndrome
psychomotor and speech development disorders
About the Authors
Maya V. Bogdanuants, Cand. Sci. (Med.), Associate Professor, Department of Propaedeutics of Childhood Diseases, Outpatient and Emergency Pediatrics, Astrakhan State Medical University; Pediatrician, Children’s City Polyclinic No. 3, Astrakhan, Russia; bogdamnv1960@mail.ru,ORCID: https://orcid.org/0000-0002-4130-4006
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