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Neurodevelopmental Manifestations of Mitochondrial Disease

Falk, Marni J. MD

Journal of Developmental & Behavioral Pediatrics: September 2010 - Volume 31 - Issue 7 - p 610-621
doi: 10.1097/DBP.0b013e3181ef42c1
Review Article

Mitochondrial disease is an increasingly recognized but widely heterogeneous group of multisystemic disorders that commonly involve severe neurodevelopmental manifestations in childhood. This review explores the presentation, genetic basis, and diagnostic evaluation of primary mitochondrial disease. Emphasis is placed on neurodevelopmental findings that may be encountered by a Developmental Pediatrician that should provoke consideration of a mitochondrial disorder. The inheritance patterns and mechanisms by which mutations in genes located in either the nuclear or mitochondrial genomes can cause mitochondrial diseases are discussed. A general overview of the current diagnostic evaluation that can be readily initiated by the Developmental Pediatrician is provided, along with a summary of currently available treatment options.

From the Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia and University of Pennsylvania School of Medicine, Philadelphia, PA.

Received March 2010; accepted May 2010.

Address for reprints: Marni J. Falk, MD, The Children's Hospital of Philadelphia, ARC 1002c, 3615 Civic Center Blvd, Philadelphia, PA 19104; e-mail:

© 2010 Lippincott Williams & Wilkins, Inc.