Case Report: Pediatric nephrology-expanding the genotypic spectrum of

Authors

• Yu-Ren Huang
• Abhijeet Pal, Section of Nephrology, Department of Pediatrics, St. Christopher's Hospital for Children, Philadelphia, PAFollow
• Anne Chun-Hui Tsai

Document Type

Article

Publication Date

2-12-2026

Abstract

Coenzyme Q10, also known as CoQ10, CoQ, and ubiquinone is an essential component of the mitochondrial electron-transport chain and functions as an energy transfer molecule as well as a redox carrier and is a lipid-soluble antioxidant. Biallelic pathogenic variants in one of the 10 genes encoding proteins involved in its synthesis, establishes the diagnosis of primary CoQ10 deficiency.

Publication Title

Front Med (Lausanne)

Volume

13

First Page

1682564

Last Page

1682564

Recommended Citation

Huang, Y., Pal, A., & Tsai, A. (2026). Case Report: Pediatric nephrology-expanding the genotypic spectrum of. Front Med (Lausanne), 13, 1682564-1682564. https://doi.org/https://doi.org/10.3389/fmed.2026.1682564