Biomaterial Database

Human coenzyme Q10 deficiency. 2007

Catarina M Quinzii, and Salvatore DiMauro, and Michio Hirano

Department of Neurology, Columbia University Medical Center, New York, NY 10032, USA.

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 critical importance in the management of these patients. This year, the first molecular defect causing the infantile form of primary human CoQ(10) deficiency has been reported. The availability of genetic testing will allow for a better understanding of the pathogenesis of this disease and early initiation of therapy (even presymptomatically in siblings of patients) in this otherwise life-threatening infantile encephalomyopathy.

UI	MeSH Term	Description	Entries
D007223	Infant	A child between 1 and 23 months of age.	Infants
D007231	Infant, Newborn	An infant during the first 28 days after birth.	Neonate,Newborns,Infants, Newborn,Neonates,Newborn,Newborn Infant,Newborn Infants
D009154	Mutation	Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations.	Mutations
D009422	Nervous System Diseases	Diseases of the central and peripheral nervous system. This includes disorders of the brain, spinal cord, cranial nerves, peripheral nerves, nerve roots, autonomic nervous system, neuromuscular junction, and muscle.	Neurologic Disorders,Nervous System Disorders,Neurological Disorders,Disease, Nervous System,Diseases, Nervous System,Disorder, Nervous System,Disorder, Neurologic,Disorder, Neurological,Disorders, Nervous System,Disorders, Neurologic,Disorders, Neurological,Nervous System Disease,Nervous System Disorder,Neurologic Disorder,Neurological Disorder
D003067	Coenzymes	Small molecules that are required for the catalytic function of ENZYMES. Many VITAMINS are coenzymes.	Coenzyme,Enzyme Cofactor,Cofactors, Enzyme,Enzyme Cofactors,Cofactor, Enzyme
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D014451	Ubiquinone	A lipid-soluble benzoquinone which is involved in ELECTRON TRANSPORT in mitochondrial preparations. The compound occurs in the majority of aerobic organisms, from bacteria to higher plants and animals.	Coenzyme Q
D020739	Brain Diseases, Metabolic, Inborn	Brain disorders resulting from inborn metabolic errors, primarily from enzymatic defects which lead to substrate accumulation, product reduction, or increase in toxic metabolites through alternate pathways. The majority of these conditions are familial, however spontaneous mutation may also occur in utero.	Central Nervous System Inborn Metabolic Diseases,Familial Metabolic Brain Diseases,Inborn Errors of Metabolism, Brain,Metabolic Diseases, Inborn, Brain,Brain Diseases, Metabolic, Familial,Brain Diseases, Metabolic, Inherited,Brain Syndrome, Metabolic, Inborn,CNS Metabolic Disorders, Inborn,Central Nervous System Inborn Metabolic Disorders,Encephalopathies, Metabolic, Inborn,Familial Metabolic Disorders, Brain,Inborn Metabolic Brain Diseases,Inborn Metabolic Brain Disorders,Inborn Metabolic Disorders, Brain,Inherited Metabolic Brain Diseases,Inherited Metabolic Disorders, Brain,Metabolic Brain Diseases, Familial,Metabolic Brain Diseases, Inborn,Metabolic Brain Diseases, Inherited,Metabolic Brain Syndrome, Inborn,Metabolic Diseases, Inborn, Central Nervous System,Metabolic Disorders, Brain, Inherited,Metabolic Disorders, CNS, Inborn,Metabolic Disorders, Familial, Brain