title: Mitochondrial disease in childhood: nuclear encoded.
abstract: Primary mitochondrial disorders are clinically and genetically heterogeneous, caused by an alteration(s) in either mitochondrial DNA or nuclear DNA, and affect the respiratory chain's ability to undergo oxidative phosphorylation, leading to decreased production of adenosine triphosphophate and subsequent energy failure. These disorders may present at any age, but children tend to have an acute onset of disease compared with subacute or slowly progressive presentation in adults. Varying organ involvement also contributes to the phenotypic spectrum seen in these disorders. The childhood presentation of primary mitochondrial disease is mainly due to nuclear DNA mutations, with mitochondrial DNA mutations being less frequent in childhood and more prominent in adulthood disease. The clinician should be aware of the pediatric presentation of mitochondrial disease and have an understanding of the myriad of nuclear genes responsible for these disorders. The nuclear genes can be best understood by utilizing a classification system of location and function within the mitochondria.
authors.affiliation: Division of Child Neurology, Department of Pediatrics, Children's Hospital of Pittsburgh of UPMC, 4401 Penn Avenue, Pittsburgh, PA 15224, USA. amy.goldstein@chp.edu
authors.forename: Amy C
authors.initials: AC
authors.lastname: Goldstein
authors.forename: Poonam
authors.initials: P
authors.lastname: Bhatia
authors.forename: Jodie M
authors.initials: JM
authors.lastname: Vento
mesh_terms: D002467:Cell Nucleus / Q000235:genetics / Q000473:pathology*; D002648:Child; D004272:DNA, Mitochondrial / Q000235:genetics / Q000502:physiology; D017353:Gene Deletion; D005796:Genes; D006801:Humans; D028361:Mitochondrial Diseases / Q000145:classification / Q000235:genetics* / Q000503:physiopathology; D017237:Mitochondrial Encephalomyopathies / Q000235:genetics / Q000503:physiopathology; D009422:Nervous System Diseases / Q000235:genetics / Q000503:physiopathology
chemical_list: D004272:DNA, Mitochondrial