Open Access

Recent perspectives of pediatric mitochondrial diseases (Review)

  • Authors:
    • Junhua Cao
    • Hongwei Wu
    • Zhenguang Li
  • View Affiliations

  • Published online on: October 27, 2017     https://doi.org/10.3892/etm.2017.5385
  • Pages:13-18
  • Copyright: © Cao et al. This is an open access article distributed under the terms of Creative Commons Attribution License.

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Abstract

Mitochondrial disorders are amongst the most common groups of inborn errors of metabolism. They are caused by deficiencies in the final pathway of the cellular energy production, the mitochondrial respiratory chain. The disorders are clinically and genetically heterogeneous and the aetiology could be found in the mitochondrial, or in the nuclear genome. We searched important e‑databases for the collection of latest literature on the mitochondrial disease especially in pediatric population. Most of the studies in the recent past have focused on the understanding of the clinical phenotypes and pathophysiological mechanisms. Leigh syndrome is a common severe, neurodegenerative disease of early childhood. A defect in the POLG gene is another common observation in most of the cases leading to Alpers syndrome. The review concludes that pediatric mitochondrial disorders are severe, progressive and usually multi‑systemic. Further, whole genome sequencing is an excellent diagnostic option.

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Journal Cover

January 2018
Volume 15 Issue 1

Print ISSN: 1792-0981
Online ISSN:1792-1015

2016 Impact Factor: 1.261
Ranked #50/128 Medicine Research and Experimental
(total number of cites)

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APA
Cao, J., Wu, H., & Li, Z. (2018). Recent perspectives of pediatric mitochondrial diseases (Review). Experimental and Therapeutic Medicine, 15, 13-18. https://doi.org/10.3892/etm.2017.5385
MLA
Cao, J., Wu, H., Li, Z."Recent perspectives of pediatric mitochondrial diseases (Review)". Experimental and Therapeutic Medicine 15.1 (2018): 13-18.
Chicago
Cao, J., Wu, H., Li, Z."Recent perspectives of pediatric mitochondrial diseases (Review)". Experimental and Therapeutic Medicine 15, no. 1 (2018): 13-18. https://doi.org/10.3892/etm.2017.5385