Ontology highlight
ABSTRACT:
SUBMITTER: Quinzii CM
PROVIDER: S-EPMC1832150 | biostudies-literature | 2007 Apr-May
REPOSITORIES: biostudies-literature
Quinzii Catarina M CM DiMauro Salvatore S Hirano Michio M
Neurochemical research 20061110 4-5
Ubiquinone (coenzyme Q(10) or CoQ(10)) is a lipid-soluble component of virtually all cell membranes and has multiple metabolic functions. Deficiency of CoQ(10) (MIM 607426) has been associated with five different clinical presentations that suggest genetic heterogeneity, which may be related to the multiple steps in CoQ(10) biosynthesis. Patients with all forms of CoQ(10) deficiency have shown clinical improvements after initiating oral CoQ(10) supplementation. Thus, early diagnosis is of critic ...[more]