title: The in-depth evaluation of suspected mitochondrial disease.
abstract: Mitochondrial disease confirmation and establishment of a specific molecular diagnosis requires extensive clinical and laboratory evaluation. Dual genome origins of mitochondrial disease, multi-organ system manifestations, and an ever increasing spectrum of recognized phenotypes represent the main diagnostic challenges. To overcome these obstacles, compiling information from a variety of diagnostic laboratory modalities can often provide sufficient evidence to establish an etiology. These include blood and tissue histochemical and analyte measurements, neuroimaging, provocative testing, enzymatic assays of tissue samples and cultured cells, as well as DNA analysis. As interpretation of results from these multifaceted investigations can become quite complex, the Diagnostic Committee of the Mitochondrial Medicine Society developed this review to provide an overview of currently available and emerging methodologies for the diagnosis of primary mitochondrial disease, with a focus on disorders characterized by impairment of oxidative phosphorylation. The aim of this work is to facilitate the diagnosis of mitochondrial disease by geneticists, neurologists, and other metabolic specialists who face the challenge of evaluating patients of all ages with suspected mitochondrial disease.
authors.affiliation: Department of Neurosciences, University of California San Diego, La Jolla, CA and Rady Children's Hospital San Diego, San Diego, CA, United States. rhaas@ucsd.edu
authors.forename: Richard H
authors.initials: RH
authors.lastname: Haas
authors.forename: Sumit
authors.initials: S
authors.lastname: Parikh
authors.forename: Marni J
authors.initials: MJ
authors.lastname: Falk
authors.forename: Russell P
authors.initials: RP
authors.lastname: Saneto
authors.forename: Nicole I
authors.initials: NI
authors.lastname: Wolf
authors.forename: Niklas
authors.initials: N
authors.lastname: Darin
authors.forename: Lee-Jun
authors.initials: LJ
authors.lastname: Wong
authors.forename: Bruce H
authors.initials: BH
authors.lastname: Cohen
authors.forename: Robert K
authors.initials: RK
authors.lastname: Naviaux
mesh_terms: D002331:Carnitine / Q000378:metabolism; D002490:Central Nervous System / Q000000981:diagnostic imaging; D006801:Humans; D008279:Magnetic Resonance Imaging; D009682:Magnetic Resonance Spectroscopy; D008928:Mitochondria / Q000378:metabolism; D028361:Mitochondrial Diseases / Q000175:diagnosis* / Q000473:pathology; D018482:Muscle, Skeletal / Q000378:metabolism; D011859:Radiography; D014451:Ubiquinone / Q000031:analogs & derivatives / Q000378:metabolism
chemical_list: D014451:Ubiquinone; C024989:coenzyme Q10; D002331:Carnitine