Clinical diversity of mitochondrial pathology: five clinical case reports
Mitochondrial diseases represent an essential share of genetic diseases. The variability of clinical manifestations of mitochondrial pathologies leads to significant difficulties in its diagnosis. Authors present five clinical case reports of pediatric patients with genetically confirmed mitochondrial diseases (Leber’s hereditary optic neuropathy, MERRF syndrome, mitochondrial complex I deficiency and mitochondrial encephalopathy due to mitochondrial and peroxisome fusion) that were all observed in the University Clinic of the Saint Petersburg State Pediatric Medical University (Saint Petersburg, Russia) in 2021-2023. All the five patients were suggested to receive a personalized energotropic therapy coupled with ketogenic dietary nutrition whilst some did not adhere to the recommended prescriptions for a number of reasons such as insufficient awareness, relatively high cost of treatments etc. therefore beneficial effect of the administered therapy was observed in only two out of three relevant patients.
Authors
- Е.Л. Ефимова (ORCID: https://orcid.org/0000-0003-2381-8385)
- E.A. Efet (ORCID: https://orcid.org/0000-0003-1400-6967)
- Grigoriy A. Yanus (ORCID: https://orcid.org/0000-0002-9844-4536)
- О.А. Кузнецова (ORCID: https://orcid.org/0000-0002-7635-2737)
- S. A. Laptiev (ORCID: https://orcid.org/0009-0004-0163-0271)
- А.Ю. Баранов (ORCID: https://orcid.org/0000-0002-6024-4635)
- Евгений Наумович Имянитов (ORCID: https://orcid.org/0000-0003-4529-7891)
- В. Д. Назаров (ORCID: https://orcid.org/0000-0002-9354-8790)
- М. Yu. Krivdina (ORCID: https://orcid.org/0000-0002-6725-8036)
- Evgeny N. Suspitsin (ORCID: https://orcid.org/0000-0001-9764-2090)
- Н. Н. Абрамова
- S.S. Volkova (ORCID: https://orcid.org/0009-0007-9743-9931)
- K.V. Rypakova (ORCID: https://orcid.org/0009-0002-1253-466X)
- Anastasiya S Abuzova (ORCID: https://orcid.org/0009-0006-0170-6963)
- N.A. Fokin (ORCID: https://orcid.org/0009-0009-6431-4053)
- D.L. Strekalov
- S. V. Rozenfeld (ORCID: https://orcid.org/0009-0003-6707-8144)
- M.L. Kosheleva (ORCID: https://orcid.org/0000-0002-6091-2904)
- E.M. Djanklich
Publication Details
- Journal
- PEDIATRIA Journal named after G N SPERANSKY
- Published
- 2024-12-07
- DOI
- https://doi.org/10.24110/0031-403x-2024-103-6-33-45
- Citations
- 1
- Primary Topic
- Metabolism and Genetic Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.38