Background and Aim: Mitochondria are essential organelles found in almost all eukaryotic cells, it is for the production of adenosine triphosphate (ATP), energy source cellular activities. There nine genetic mutations known to cause mitochondrial DNA depletion syndrome (MDS). It further sub-categorised into four clinical forms i) hepato-cerebral, associated with DGUOK, POLG, MPV17, or C10orf2 i...

Mitochondrial disorders are a group of highly invalidating human conditions for which effective treatment is currently unavailable and characterized by faulty energy supply due to defective oxidative phosphorylation (OXPHOS). Given the complexity of mitochondrial genetics and biochemistry, mitochondrial inherited diseases may present with a vast range of symptoms, organ involvement, severity, a...

With interestwe read the article by Zanolini et al. about a 21 yomale with exercise-intolerance since age 7 y, recurrent vomiting since age 17 y, muscle wasting, decreased tendon reflexes, high-arched palate and mal-occlusion detected at age 20 y, exercise-induced supraventricular tachycardia, and lactic acidosis due to a ND2 mutation [1]. The patient profited from coenzyme-Q [1]. We have the f...