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The in-depth evaluation of suspected mitochondrial disease

Journal article
Authors R. H. Haas
S. Parikh
M. J. Falk
R. P. Saneto
N. I. Wolf
Niklas Darin
L. J. Wong
B. H. Cohen
R. K. Naviaux
Published in Molecular Genetics and Metabolism
Volume 94
Issue 1
Pages 16-37
ISSN 1096-7206
Publication year 2008
Published at
Pages 16-37
Language en
Keywords Carnitine/metabolism, Central Nervous System/radiography, Humans, Magnetic Resonance Imaging, Magnetic Resonance Spectroscopy, Mitochondria/metabolism, Mitochondrial Diseases/*diagnosis/pathology, Muscle, Skeletal/metabolism, Ubiquinone/analogs & derivatives/metabolism
Subject categories Medical and Health Sciences


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.

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