International Journal of Molecular Sciences · 9 authors, 3 centres
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This narrative review describes the clinical 'red flags' and diagnostic challenges associated with primary mitochondrial diseases (PMDs), which are complex multisystem metabolic disorders. The authors highlight that PMDs should be suspected in any complex multisystem disorder with predominant neurological, ocular, or endocrine involvement, and emphasize the importance of meticulous family history and targeted molecular testing.
This narrative review outlines the clinical features ('red flags') that should prompt suspicion of primary mitochondrial diseases (PMDs), which are caused by genetically determined impairment of mitochondrial oxidative phosphorylation. PMDs are described as the most frequent genetic metabolic disorders, with a prevalence of approximately 1 in 4300, and involve pathogenic variants in 37 mitochondrial DNA genes and more than 400 nuclear DNA genes. The review discusses the diagnostic challenges arising from vast phenotypical heterogeneity and complex genotype-phenotype correlations, noting that while many patients fit classic phenotypes, significant numbers are oligosymptomatic or have overlapping presentations. The review notes that current therapies remain largely limited to supportive and symptomatic treatments, with idebenone for acute visual loss in LHON and omaveloxolone for Friedreich's ataxia being among the few FDA-approved agents. As a narrative review, the evidence presented is synthesized from existing literature rather than derived from original research, and no formal systematic methodology or meta-analysis was conducted.
