Mitochondrial Disease and Coenzyme Q10 Deficiency: Commentary

Mitochondrial disorders may present from birth to adulthood and are characterized by dysfunction of the mitochondrial respiratory chain due to pathogenic variants in mitochondrial DNA (mtDNA) or nuclear DNA, with an estimated incidence of 1/5000 1. Mitochondrial disorders have a broad phenotypic spectrum and may fall into one of several classic phenotypic presentations (e.g., mitochondrial encephalopathy with lactic acidosis and stroke-like episodes: MELAS; Leber hereditary optic neuropathy: LHON; myoclonic epilepsy with ragged red fibers: MERRF, Kearns-Sayre syndrome: KSS, among others) or may present with variable symptoms not falling into a defined clinical disorder 2,3.
Source: The Journal of Pediatrics - Category: Pediatrics Authors: Tags: Editorials Source Type: research