Homogenisation of M.3243a>G Carrier Subgroups is A Prerequisite to Delineate Them Upon The Urine Metabolome

Abstract

With interest we read the article by Esterhuizen et al. about a study of 9 patients with mitochondrial encephalopathy, lactic acidosis, and stroke-like episode (MELAS), 30 patients with maternally inherited diabetes and deafness (MIDD), and 18 patients with mitochondrial myopathy (MM), all carrying the MT-TL1  variant  m.3243A>G,  for  urine  analysis  by  means  of  liquid  chromatography  tandem  mass spectroscopy (LC-MS/MS), gas chromatography time-of-flight mass  spectroscopy (GC-TOF-MS), and by NMR spectroscopy [1]. It was found that glucose metabolism is disturbed only in MIDD, that fatty acid metabolism  is  modified  in  MELAS,  and  that  urine  creatinine  iselevated  in  MM  [1].  The  study  is appealing but raises comments and concerns