Published online November 30, 2007
PEDIATRICS Vol. 120 No. 6 December 2007, pp. 1326-1333 (doi:10.1542/peds.2007-0391)
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STATE-OF-THE-ART REVIEW ARTICLE

Mitochondrial Disease: A Practical Approach for Primary Care Physicians

Richard H. Haas, MB, BChir, MRCPa,b, Sumit Parikh, MDc, Marni J. Falk, MDd, Russell P. Saneto, DO, PhDe, Nicole I. Wolf, MDf,g, Niklas Darin, MDh and Bruce H. Cohen, MDc

a Departments of Neurosciences and Pediatrics, University of California San Diego, La Jolla, California
b Departments of Neurosciences and Pediatrics, Rady Children's Hospital and Health Center, San Diego, California
c Division of Neuroscience, Cleveland Clinic, Cleveland, Ohio
d Division of Human Genetics, Children's Hospital of Philadelphia and University of Pennsylvania, Philadelphia, Pennsylvania
e Division of Pediatric Neurology, Children's Hospital and Regional Medical Center, University of Washington, Seattle, Washington
f Division of Child Neurology, University Children's Hospital, Heidelberg, Germany
g Division of Child Neurology, University Children's Hospital, Zürich, Switzerland
h Division of Child Neurology, Queen Silvia Children's Hospital, Göteborg, Sweden

ABSTRACT

Notorious variability in the presentation of mitochondrial disease in the infant and young child complicates its clinical diagnosis. Mitochondrial disease is not a single entity but, rather, a heterogeneous group of disorders characterized by impaired energy production due to genetically based oxidative phosphorylation dysfunction. Together, these disorders constitute the most common neurometabolic disease of childhood with an estimated minimal risk of developing mitochondrial disease of 1 in 5000. Diagnostic difficulty results from not only the variable and often nonspecific presentation of these disorders but also from the absence of a reliable biomarker specific for the screening or diagnosis of mitochondrial disease. A simplified and standardized approach to facilitate the clinical recognition of mitochondrial disease by primary physicians is needed. With this article we aimed to improve the clinical recognition of mitochondrial disease by primary care providers and empower the generalist to initiate appropriate baseline diagnostic testing before determining the need for specialist referral. This is particularly important in light of the international shortage of metabolism specialists to comprehensively evaluate this large and complex disease population. It is hoped that greater familiarity among primary care physicians with the protean manifestations of mitochondrial disease will facilitate the proper diagnosis and management of this growing cohort of pediatric patients who present across all specialties.

Key Words: mitochondrial disease • oxidative phosphorylation • OXPHOS • diagnosis • children

Abbreviations: OXPHOS—oxidative phosphorylation • mtDNA—mitochondrial DNA • nDNA—nuclear DNA • MELAS—mitochondrial myopathy encephalopathy, lactic acidosis and stroke-like episodes • MRS—proton (1H) magnetic resonance spectroscopy • CSF—cerebrospinal fluid

Accepted Sep 19, 2007.


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