title: CoQ10Deficiency Is Not a Common Finding in GLUT1 Deficiency Syndrome.
abstract: CoQ10deficiency has been recently described in tissues of a patient with GLUT1 deficiency syndrome. Here, we investigated patients and mice with GLUT1 deficiency in order to determine whether low CoQ is a recurrent biochemical feature of this disorder, to justify CoQ10supplementation as therapeutic option.CoQ10levels were investigated in plasma, white blood cells, and skin fibroblasts of 16 patients and healthy controls and in the brain, cerebellum, liver, kidney, muscle, and plasma of 4-month-old GLUT1 mutant and control mice.CoQ10levels in plasma did not show any difference compared with controls. Since most of the patients studied were on a ketogenic diet, which can alter CoQ10content in plasma, we also analyzed white blood cells and cultured skin fibroblasts. Again, we found no differences. In mice, we found slightly reduced CoQ in the cerebellum, likely an epiphenomenon, and activity of the mitochondrial respiratory chain enzymes was normal.Our data from GLUT1 deficiency patients and from GLUT1 model mice fail to support CoQ10deficiency as a common finding in GLUT1 deficiency, suggesting that CoQ deficiency is not a direct biochemical consequence of defective glucose transport caused by molecular defects in the SLC2A1 gene.
authors.affiliation: Department of Neurology, Columbia University Medical Center, 630 West 168th Street, New York, NY, 10032, USA.|UOC Neurology and Neuromuscular Disorders, Department of Clinical and Experimental Medicine, University of Messina, Messina, Italy.
authors.forename: Emanuele
authors.initials: E
authors.lastname: Barca
authors.affiliation: Department of Neurology, Colleen Giblin Laboratories for Pediatric Neurology Research, Columbia University, 710 West 168th Street, New York, NY, 10032, USA.
authors.forename: Maoxue
authors.initials: M
authors.lastname: Tang
authors.affiliation: Department of Neurology, Columbia University Medical Center, 630 West 168th Street, New York, NY, 10032, USA.
authors.forename: Giulio
authors.initials: G
authors.lastname: Kleiner
authors.affiliation: Department of Neurology, Colleen Giblin Laboratories for Pediatric Neurology Research, Columbia University, 710 West 168th Street, New York, NY, 10032, USA.
authors.forename: Kristin
authors.initials: K
authors.lastname: Engelstad
authors.affiliation: Department of Neurology, Columbia University Medical Center, 630 West 168th Street, New York, NY, 10032, USA.
authors.forename: Salvatore
authors.initials: S
authors.lastname: DiMauro
authors.affiliation: Department of Neurology, Columbia University Medical Center, 630 West 168th Street, New York, NY, 10032, USA. cmq2101@cumc.columbia.edu.
authors.forename: Catarina M
authors.initials: CM
authors.lastname: Quinzii
authors.affiliation: Department of Neurology, Colleen Giblin Laboratories for Pediatric Neurology Research, Columbia University, 710 West 168th Street, New York, NY, 10032, USA. dcd1@columbia.edu.
authors.forename: Darryl C
authors.initials: DC
authors.lastname: De Vivo