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Updated: Jun 2, 2025

Assessment of Open Probability of the Mitochondrial Permeability Transition Pore in the Setting of Coenzyme Q Excess
Published on: June 1, 2022
Novel Coenzyme Q2 (CoQ2) Mutation in a Pediatric Patient With Primary Steroid-Resistant Nephrotic Syndrome Due to
Shahad Alwazzan1, Osama Alnwaihi1, Neetha John2
1Pediatrics Department, Dr. Sulaiman Al Habib Hospital, Riyadh, SAU.
Abstract:
Coenzyme Q2 (CoQ2) mutations are a group of autosomal recessive mitochondria-linked diseases that result in coenzyme Q10 (CoQ10) deficiency (CoQ10: a cofactor in mitochondrial energy production). Its deficiency leads to multiple systemic clinical presentations; however, isolated steroid-resistant nephrotic syndrome (SRNS) is considerably rare. Multiple genetic mutations have been reported with different ranges of severity and prognosis, with variable responses to CoQ10 supplementation. This case report describes a boy with CoQ10 deficiency due to a novel homozygous variation in the CoQ2 gene, c.1112T>A, p.(Leu371Gln). The patient presented with isolated SRNS, and oral supplementation of CoQ10 resulted in remission.
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