Journal ArticleDOI
Diagnosis, management, and follow-up of mitochondrial disorders in childhood: a personalized medicine in the new era of genome sequence
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TLDR
Information is provided on diagnosis approach to patients suspected for mitochondrial disorders as well as management on chronic and acute settings and follow-up should provide comprehensive information on patient’s status.Abstract:
Primary mitochondrial disorders are highly variable in clinical presentation, biochemistry, and molecular etiology. Mitochondrial disorders can be caused by genetic defects in the mitochondrial, in nuclear genome, or in the interplay between the two genomes. Biochemical screening tests may be inconclusive or misleading since patients, with confirmed mitochondrial disorders specially in pediatric age, may exhibit normal routine biochemistry, muscle histology, or enzymatic analysis of the mitochondrial respiratory chain. Diagnosis is often challenging even with combination of multiple criteria (clinical, biochemical, histological, and functional), as innumerous conditions cause secondary mitochondrial dysfunction. Nowadays, a definite diagnosis is only possible by genetic confirmation since no single score system is satisfactorily accurate, being sensitive but not specific.Conclusion: Awareness between physicians is of major importance considering that clinical suspicion may not be obvious regarding the heterogenicity in presentation and biochemical features of mitochondrial disorders. In this review, we provide information on diagnosis approach to patients suspected for mitochondrial disorders as well as management on chronic and acute settings. Follow-up should provide comprehensive information on patient's status, since intervention on these diseases is mostly supportive and prognosis is variable and sometimes unpredictable. What is Known: • Mitochondrial disorders are heterogenous and may present at any age, with any symptoms and any type of inheritance. • Mitochondrial disorders may be due to pathogenic variants in mitochondrial DNA (mtDNA) or nuclear genes (nDNA). What is New: • Since no single score system is satisfactorily accurate, a definite diagnosis is only possible with genetic studies with gene panels proving to be a cost-effective approach. • Clinical and biochemical features of patients without a confirmed diagnosis must be reviewed and other diagnosis must be considered. A wider genetic approach may be applied (WES or WGS).read more
Citations
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Clinical, pathological and genetic spectrum in 89 cases of mitochondrial progressive external ophthalmoplegia.
Claudia Rodríguez-López,Luis M. García-Cárdaba,Alberto Blázquez,Pablo Serrano-Lorenzo,Gerardo Gutiérrez-Gutiérrez,Beatriz San Millán-Tejado,Nuria Muelas,Aurelio Hernández-Laín,Juan J. Vílchez,Eduardo Gutiérrez-Rivas,Joaquín Arenas,Miguel A. Martín,Cristina Domínguez-González +12 more
TL;DR: Phenotype–genotype correlations cannot be brought in mitochondrial PEO and Muscle biopsy should be the first step in the diagnostic flow of PEO when mitochondrial aetiology is suspected since it also enables the study of mtDNA rearrangements.
Journal ArticleDOI
Inborn errors of metabolism in the differential diagnosis of fatty liver disease.
Yilmaz Yildiz,Hatice Serap Sivri +1 more
TL;DR: The basic characteristics and diagnostic clues of inborn errors of metabolism associated with fatty liver disease are summarized and a suggested clinical and laboratory diagnostic approach is discussed.
Journal ArticleDOI
Epilepsy in Mitochondrial Diseases-Current State of Knowledge on Aetiology and Treatment.
TL;DR: In this article, the authors present the pathophysiology, clinical picture and treatment options for epilepsy in patients with mitochondrial disease, which is one of the most common manifestations of diseases resulting from mitochondrial dysfunction, especially in children.
Journal ArticleDOI
Diagnosing newborns with suspected mitochondrial disorders: an economic evaluation comparing early exome sequencing to current typical care.
TL;DR: Trio and singleton eES are cost-effective and cost-minimizing alternatives to current TC in diagnosing newborns suspected of having a severe MitD in diagnosed newborns with suspected severe mitochondrial disorders.
Journal ArticleDOI
MELAS Missed for Years: Stroke-Like Lesions Are No Indication for Brain Biopsy.
TL;DR: In conclusion, adult-onset MID may be missed for years, SLLs may be easily misinterpreted entailing brain biopsy, and psychosis may contribute to a reduced impact for proper workup of a MID.
References
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Journal ArticleDOI
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Salvatore DiMauro,Eric A. Schon +1 more
TL;DR: The mitochondrial respiratory chain has the crucial function of supplying the cell with energy in the form of ATP, and mutations affecting this chain can arise in mitochondrial or nuclear DNA and cause diseases known as mitochondrial encephalomyopathies.
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Adverse Metabolic Consequences in Humans of Prolonged Sleep Restriction Combined with Circadian Disruption
Orfeu M. Buxton,Sean W. Cain,Shawn P. O'Connor,James H. Porter,Jeanne F. Duffy,Wei Wang,Charles A. Czeisler,Steven Shea +7 more
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Diagnostic criteria for respiratory chain disorders in adults and children
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