CoQ₁₀ Deficiency Is Not a Common Finding in GLUT1 Deficiency Syndrome.

ABSTRACT: CoQ₁₀ deficiency 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 CoQ₁₀ supplementation as therapeutic option.CoQ₁₀ levels 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.CoQ₁₀ levels in plasma did not show any difference compared with controls. Since most of the patients studied were on a ketogenic diet, which can alter CoQ₁₀ content in plasma, we also analyzed white blood cel

SUBMITTER: Barca E 

PROVIDER: S-EPMC5059199 | biostudies-literature | 2016

REPOSITORIES: biostudies-literature