Journal article

Mitochondrial respiratory chain disorders in childhood: Insights into diagnosis and management in the new era of genomic medicine

Minal J Menezes, Lisa G Riley, John Christodoulou

BIOCHIMICA ET BIOPHYSICA ACTA-GENERAL SUBJECTS | ELSEVIER | Published : 2014

Abstract

BACKGROUND: Mitochondrial respiratory chain disorders (MRCDs) are some of the most common metabolic disorders presenting in childhood, however because of it clinical heterogeneity, diagnosis is often challenging. Being a multisystemic disorder with variable and non-specific presentations, definitive diagnosis requires a combination of investigative approaches, and is often a laborious process. SCOPE OF REVIEW: In this review we provide a broad overview of the clinical presentations of MRCDs in childhood, evaluating the different diagnostic approaches and treatment options, and highlighting the recent research advances in this area. MAJOR CONCLUSIONS: Extensive research over the years has sig..

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