Mitochondrial disorders: Overview of diagnostic tools and new diagnostic trends

• Published in: Journal of pediatric biochemistry Vol. 2; no. 4; pp. 193 - 203
• Main Author: Kendall, Fran D.
• Format: Journal Article
• Language: English
• Published: New York Georg Thieme Verlag KG 01.01.2012; Stuttgart
• Subjects: Review Article; symptom; disease; Mitochondrial; test; gene; diagnose; muscle biopsy; buccal swab; next gen sequencing
• ISSN: 1879-5390; 1879-5404
• DOI: 10.3233/JPB-120061

Abstract Mitochondrial disorders typically present with widespread, clinical features in all age groups and ethnicities and are often progressive and degenerative in nature. Because their clinical presentation is so variable and typically leads to widespread multisystem problems, diagnosis based on history and physical findings alone is often difficult, particularly for physicians unfamiliar with this group of diseases. Traditional diagnostic tools, which include invasive muscle biopsies for a variety of histological studies, functional assays, and enzymology, are costly, typically require a surgical procedure, are not definitively diagnostic in all cases and generate data that for the non-mitochondrial specialist is often difficult to interpret. Recent advances with expanded gene testing, in some cases utilizing easily obtainable urine samples, and noninvasive enzymatic testing are proving to increase patient accessibility to testing modalities and will likely lead to more rapid and accurate diagnosis, and ultimately improve management and treatment of affected individuals.