ArticleNeurology. Genetics2021
Diagnosing Mitochondrial Disorders Remains Challenging in the Omics Era.
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Article in Neurology. Genetics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers, 1 of them a synthesis that pooled it.
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22citing papers in PubMed, 1 pooled it
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Who cites it
22 citing papers in PubMed, 1 synthesis or guideline pooled it, 32 citations in OpenAlex.
- Kidney transplantation in mitochondrial diseases: a systematic review.Pediatric nephrology (Berlin, Germany) · 2026Pooled it
- Advances in diagnosis of mitochondrial dysfunction and primary mitochondrial disease.Disease models & mechanisms · 2026Review
- Advances in Primary Mitochondrial Diseases: Diagnosis, Natural History Studies and Clinical Trials.Genes · 2026Review
- The long road to a rare diagnosis: A Malaysian case of childhood-onset progressive myoclonus, ataxia, and retinal dystrophy with biopsy features suggestive of mitochondrial dysfunction.The Journal of international medical research · 2026Article
- Metabolic Myopathies and HyperCKemia in Adulthood: A Clinical Approach to Diagnosis and Management.Journal of clinical medicine · 2026Review
- Cooperative Architecture of Mitochondrial Proteome Homeostasis.medRxiv : the preprint server for health sciences · 2026Article
- Identification of Intronic Variants inNeurology. Genetics · 2026Article
- Biallelic variants in IBA57 with multiple mitochondrial dysfunction syndrome 3.Frontiers in genetics · 2026Article
- Drivers of Diagnostic Delay in Mitochondrial Disease: Missed Recognition of Canonical Features.JIMD reports · 2026Article
- Adult presentation of a rare mitochondrial tRNA Val gene mutation-an expanding clinical phenotype.European journal of neurology · 2024Article
- Primary mitochondrial disorders and mimics: Insights from a large French cohort.Annals of clinical and translational neurology · 2024Article
- Systematic analysis of NDUFAF6 in complex I assembly and mitochondrial disease.Nature metabolism · 2024Article
- Challenges and opportunities to bridge translational to clinical research for personalized mitochondrial medicine.Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics · 2024Review
- Functional genomics and small molecules in mitochondrial neurodevelopmental disorders.Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics · 2024Review
- Mitochondrial proteome research: the road ahead.Nature reviews. Molecular cell biology · 2024Review
- Wide diagnostic and genotypic spectrum in patients with suspected mitochondrial disease.Orphanet journal of rare diseases · 2023Article
- Article
- Use of dual genomic sequencing to screen mitochondrial diseases in pediatrics: a retrospective analysis.Scientific reports · 2023Article
- Mitochondrial diseases in Hong Kong: prevalence, clinical characteristics and genetic landscape.Orphanet journal of rare diseases · 2023Article
- A one-year pilot study comparing direct-infusion high resolution mass spectrometry based untargeted metabolomics to targeted diagnostic screening for inherited metabolic diseases.Frontiers in molecular biosciences · 2023Article
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Authors and funding
17 authors at 1 institution in 2 countries.
Patrick FornyMitochondrial Research Group (P.F., S.R.), UCL Great Ormond Street Institute of Child Health; Metabolic Medicine Department (P.F., E.F., J.E.D., S. Batzios, A.C., M.C., P.G., S.G., S.R.), Great Ormond Street Hospital for Children NHS Foundation Trust; Neurometabolic Unit (A.L., S.H.), National Hospital for Neurology and Neurosurgery; Department of Chemical Pathology (A.L., S.H.), Great Ormond Street Hospital for Children NHS Foundation Trust; Neurogenetics Unit (C.E.W.), National Hospital for Neurology and Neurosurgery; Department of Neurology (S. Bhate), Department of Clinical Genetics (J.A.H., R.S.), North East Thames Regional Genetics Service, DBC Programme (T.S.J.), UCL Great Ormond Street Institute of Child Health and Department of Histopathology, and London North Genomic Laboratory Hub (T.C.), Great Ormond Street Hospital for Children NHS Foundation Trust, United Kingdom.ORCID 0000-0003-1877-2976
Emma FootittMitochondrial Research Group (P.F., S.R.), UCL Great Ormond Street Institute of Child Health; Metabolic Medicine Department (P.F., E.F., J.E.D., S. Batzios, A.C., M.C., P.G., S.G., S.R.), Great Ormond Street Hospital for Children NHS Foundation Trust; Neurometabolic Unit (A.L., S.H.), National Hospital for Neurology and Neurosurgery; Department of Chemical Pathology (A.L., S.H.), Great Ormond Street Hospital for Children NHS Foundation Trust; Neurogenetics Unit (C.E.W.), National Hospital for Neurology and Neurosurgery; Department of Neurology (S. Bhate), Department of Clinical Genetics (J.A.H., R.S.), North East Thames Regional Genetics Service, DBC Programme (T.S.J.), UCL Great Ormond Street Institute of Child Health and Department of Histopathology, and London North Genomic Laboratory Hub (T.C.), Great Ormond Street Hospital for Children NHS Foundation Trust, United Kingdom.
James E DavisonMitochondrial Research Group (P.F., S.R.), UCL Great Ormond Street Institute of Child Health; Metabolic Medicine Department (P.F., E.F., J.E.D., S. Batzios, A.C., M.C., P.G., S.G., S.R.), Great Ormond Street Hospital for Children NHS Foundation Trust; Neurometabolic Unit (A.L., S.H.), National Hospital for Neurology and Neurosurgery; Department of Chemical Pathology (A.L., S.H.), Great Ormond Street Hospital for Children NHS Foundation Trust; Neurogenetics Unit (C.E.W.), National Hospital for Neurology and Neurosurgery; Department of Neurology (S. Bhate), Department of Clinical Genetics (J.A.H., R.S.), North East Thames Regional Genetics Service, DBC Programme (T.S.J.), UCL Great Ormond Street Institute of Child Health and Department of Histopathology, and London North Genomic Laboratory Hub (T.C.), Great Ormond Street Hospital for Children NHS Foundation Trust, United Kingdom.
Amanda LamMitochondrial Research Group (P.F., S.R.), UCL Great Ormond Street Institute of Child Health; Metabolic Medicine Department (P.F., E.F., J.E.D., S. Batzios, A.C., M.C., P.G., S.G., S.R.), Great Ormond Street Hospital for Children NHS Foundation Trust; Neurometabolic Unit (A.L., S.H.), National Hospital for Neurology and Neurosurgery; Department of Chemical Pathology (A.L., S.H.), Great Ormond Street Hospital for Children NHS Foundation Trust; Neurogenetics Unit (C.E.W.), National Hospital for Neurology and Neurosurgery; Department of Neurology (S. Bhate), Department of Clinical Genetics (J.A.H., R.S.), North East Thames Regional Genetics Service, DBC Programme (T.S.J.), UCL Great Ormond Street Institute of Child Health and Department of Histopathology, and London North Genomic Laboratory Hub (T.C.), Great Ormond Street Hospital for Children NHS Foundation Trust, United Kingdom.
Cathy E WoodwardMitochondrial Research Group (P.F., S.R.), UCL Great Ormond Street Institute of Child Health; Metabolic Medicine Department (P.F., E.F., J.E.D., S. Batzios, A.C., M.C., P.G., S.G., S.R.), Great Ormond Street Hospital for Children NHS Foundation Trust; Neurometabolic Unit (A.L., S.H.), National Hospital for Neurology and Neurosurgery; Department of Chemical Pathology (A.L., S.H.), Great Ormond Street Hospital for Children NHS Foundation Trust; Neurogenetics Unit (C.E.W.), National Hospital for Neurology and Neurosurgery; Department of Neurology (S. Bhate), Department of Clinical Genetics (J.A.H., R.S.), North East Thames Regional Genetics Service, DBC Programme (T.S.J.), UCL Great Ormond Street Institute of Child Health and Department of Histopathology, and London North Genomic Laboratory Hub (T.C.), Great Ormond Street Hospital for Children NHS Foundation Trust, United Kingdom.
Spyros BatziosMitochondrial Research Group (P.F., S.R.), UCL Great Ormond Street Institute of Child Health; Metabolic Medicine Department (P.F., E.F., J.E.D., S. Batzios, A.C., M.C., P.G., S.G., S.R.), Great Ormond Street Hospital for Children NHS Foundation Trust; Neurometabolic Unit (A.L., S.H.), National Hospital for Neurology and Neurosurgery; Department of Chemical Pathology (A.L., S.H.), Great Ormond Street Hospital for Children NHS Foundation Trust; Neurogenetics Unit (C.E.W.), National Hospital for Neurology and Neurosurgery; Department of Neurology (S. Bhate), Department of Clinical Genetics (J.A.H., R.S.), North East Thames Regional Genetics Service, DBC Programme (T.S.J.), UCL Great Ormond Street Institute of Child Health and Department of Histopathology, and London North Genomic Laboratory Hub (T.C.), Great Ormond Street Hospital for Children NHS Foundation Trust, United Kingdom.
Sanjay BhateMitochondrial Research Group (P.F., S.R.), UCL Great Ormond Street Institute of Child Health; Metabolic Medicine Department (P.F., E.F., J.E.D., S. Batzios, A.C., M.C., P.G., S.G., S.R.), Great Ormond Street Hospital for Children NHS Foundation Trust; Neurometabolic Unit (A.L., S.H.), National Hospital for Neurology and Neurosurgery; Department of Chemical Pathology (A.L., S.H.), Great Ormond Street Hospital for Children NHS Foundation Trust; Neurogenetics Unit (C.E.W.), National Hospital for Neurology and Neurosurgery; Department of Neurology (S. Bhate), Department of Clinical Genetics (J.A.H., R.S.), North East Thames Regional Genetics Service, DBC Programme (T.S.J.), UCL Great Ormond Street Institute of Child Health and Department of Histopathology, and London North Genomic Laboratory Hub (T.C.), Great Ormond Street Hospital for Children NHS Foundation Trust, United Kingdom.
Anupam ChakrapaniMitochondrial Research Group (P.F., S.R.), UCL Great Ormond Street Institute of Child Health; Metabolic Medicine Department (P.F., E.F., J.E.D., S. Batzios, A.C., M.C., P.G., S.G., S.R.), Great Ormond Street Hospital for Children NHS Foundation Trust; Neurometabolic Unit (A.L., S.H.), National Hospital for Neurology and Neurosurgery; Department of Chemical Pathology (A.L., S.H.), Great Ormond Street Hospital for Children NHS Foundation Trust; Neurogenetics Unit (C.E.W.), National Hospital for Neurology and Neurosurgery; Department of Neurology (S. Bhate), Department of Clinical Genetics (J.A.H., R.S.), North East Thames Regional Genetics Service, DBC Programme (T.S.J.), UCL Great Ormond Street Institute of Child Health and Department of Histopathology, and London North Genomic Laboratory Hub (T.C.), Great Ormond Street Hospital for Children NHS Foundation Trust, United Kingdom.
Maureen ClearyMitochondrial Research Group (P.F., S.R.), UCL Great Ormond Street Institute of Child Health; Metabolic Medicine Department (P.F., E.F., J.E.D., S. Batzios, A.C., M.C., P.G., S.G., S.R.), Great Ormond Street Hospital for Children NHS Foundation Trust; Neurometabolic Unit (A.L., S.H.), National Hospital for Neurology and Neurosurgery; Department of Chemical Pathology (A.L., S.H.), Great Ormond Street Hospital for Children NHS Foundation Trust; Neurogenetics Unit (C.E.W.), National Hospital for Neurology and Neurosurgery; Department of Neurology (S. Bhate), Department of Clinical Genetics (J.A.H., R.S.), North East Thames Regional Genetics Service, DBC Programme (T.S.J.), UCL Great Ormond Street Institute of Child Health and Department of Histopathology, and London North Genomic Laboratory Hub (T.C.), Great Ormond Street Hospital for Children NHS Foundation Trust, United Kingdom.
Paul GissenMitochondrial Research Group (P.F., S.R.), UCL Great Ormond Street Institute of Child Health; Metabolic Medicine Department (P.F., E.F., J.E.D., S. Batzios, A.C., M.C., P.G., S.G., S.R.), Great Ormond Street Hospital for Children NHS Foundation Trust; Neurometabolic Unit (A.L., S.H.), National Hospital for Neurology and Neurosurgery; Department of Chemical Pathology (A.L., S.H.), Great Ormond Street Hospital for Children NHS Foundation Trust; Neurogenetics Unit (C.E.W.), National Hospital for Neurology and Neurosurgery; Department of Neurology (S. Bhate), Department of Clinical Genetics (J.A.H., R.S.), North East Thames Regional Genetics Service, DBC Programme (T.S.J.), UCL Great Ormond Street Institute of Child Health and Department of Histopathology, and London North Genomic Laboratory Hub (T.C.), Great Ormond Street Hospital for Children NHS Foundation Trust, United Kingdom.ORCID 0000-0002-9712-6122
Stephanie GrunewaldMitochondrial Research Group (P.F., S.R.), UCL Great Ormond Street Institute of Child Health; Metabolic Medicine Department (P.F., E.F., J.E.D., S. Batzios, A.C., M.C., P.G., S.G., S.R.), Great Ormond Street Hospital for Children NHS Foundation Trust; Neurometabolic Unit (A.L., S.H.), National Hospital for Neurology and Neurosurgery; Department of Chemical Pathology (A.L., S.H.), Great Ormond Street Hospital for Children NHS Foundation Trust; Neurogenetics Unit (C.E.W.), National Hospital for Neurology and Neurosurgery; Department of Neurology (S. Bhate), Department of Clinical Genetics (J.A.H., R.S.), North East Thames Regional Genetics Service, DBC Programme (T.S.J.), UCL Great Ormond Street Institute of Child Health and Department of Histopathology, and London North Genomic Laboratory Hub (T.C.), Great Ormond Street Hospital for Children NHS Foundation Trust, United Kingdom.
Jane A HurstMitochondrial Research Group (P.F., S.R.), UCL Great Ormond Street Institute of Child Health; Metabolic Medicine Department (P.F., E.F., J.E.D., S. Batzios, A.C., M.C., P.G., S.G., S.R.), Great Ormond Street Hospital for Children NHS Foundation Trust; Neurometabolic Unit (A.L., S.H.), National Hospital for Neurology and Neurosurgery; Department of Chemical Pathology (A.L., S.H.), Great Ormond Street Hospital for Children NHS Foundation Trust; Neurogenetics Unit (C.E.W.), National Hospital for Neurology and Neurosurgery; Department of Neurology (S. Bhate), Department of Clinical Genetics (J.A.H., R.S.), North East Thames Regional Genetics Service, DBC Programme (T.S.J.), UCL Great Ormond Street Institute of Child Health and Department of Histopathology, and London North Genomic Laboratory Hub (T.C.), Great Ormond Street Hospital for Children NHS Foundation Trust, United Kingdom.
Richard ScottMitochondrial Research Group (P.F., S.R.), UCL Great Ormond Street Institute of Child Health; Metabolic Medicine Department (P.F., E.F., J.E.D., S. Batzios, A.C., M.C., P.G., S.G., S.R.), Great Ormond Street Hospital for Children NHS Foundation Trust; Neurometabolic Unit (A.L., S.H.), National Hospital for Neurology and Neurosurgery; Department of Chemical Pathology (A.L., S.H.), Great Ormond Street Hospital for Children NHS Foundation Trust; Neurogenetics Unit (C.E.W.), National Hospital for Neurology and Neurosurgery; Department of Neurology (S. Bhate), Department of Clinical Genetics (J.A.H., R.S.), North East Thames Regional Genetics Service, DBC Programme (T.S.J.), UCL Great Ormond Street Institute of Child Health and Department of Histopathology, and London North Genomic Laboratory Hub (T.C.), Great Ormond Street Hospital for Children NHS Foundation Trust, United Kingdom.
Simon HealesMitochondrial Research Group (P.F., S.R.), UCL Great Ormond Street Institute of Child Health; Metabolic Medicine Department (P.F., E.F., J.E.D., S. Batzios, A.C., M.C., P.G., S.G., S.R.), Great Ormond Street Hospital for Children NHS Foundation Trust; Neurometabolic Unit (A.L., S.H.), National Hospital for Neurology and Neurosurgery; Department of Chemical Pathology (A.L., S.H.), Great Ormond Street Hospital for Children NHS Foundation Trust; Neurogenetics Unit (C.E.W.), National Hospital for Neurology and Neurosurgery; Department of Neurology (S. Bhate), Department of Clinical Genetics (J.A.H., R.S.), North East Thames Regional Genetics Service, DBC Programme (T.S.J.), UCL Great Ormond Street Institute of Child Health and Department of Histopathology, and London North Genomic Laboratory Hub (T.C.), Great Ormond Street Hospital for Children NHS Foundation Trust, United Kingdom.
Thomas S JacquesMitochondrial Research Group (P.F., S.R.), UCL Great Ormond Street Institute of Child Health; Metabolic Medicine Department (P.F., E.F., J.E.D., S. Batzios, A.C., M.C., P.G., S.G., S.R.), Great Ormond Street Hospital for Children NHS Foundation Trust; Neurometabolic Unit (A.L., S.H.), National Hospital for Neurology and Neurosurgery; Department of Chemical Pathology (A.L., S.H.), Great Ormond Street Hospital for Children NHS Foundation Trust; Neurogenetics Unit (C.E.W.), National Hospital for Neurology and Neurosurgery; Department of Neurology (S. Bhate), Department of Clinical Genetics (J.A.H., R.S.), North East Thames Regional Genetics Service, DBC Programme (T.S.J.), UCL Great Ormond Street Institute of Child Health and Department of Histopathology, and London North Genomic Laboratory Hub (T.C.), Great Ormond Street Hospital for Children NHS Foundation Trust, United Kingdom.
Thomas CullupMitochondrial Research Group (P.F., S.R.), UCL Great Ormond Street Institute of Child Health; Metabolic Medicine Department (P.F., E.F., J.E.D., S. Batzios, A.C., M.C., P.G., S.G., S.R.), Great Ormond Street Hospital for Children NHS Foundation Trust; Neurometabolic Unit (A.L., S.H.), National Hospital for Neurology and Neurosurgery; Department of Chemical Pathology (A.L., S.H.), Great Ormond Street Hospital for Children NHS Foundation Trust; Neurogenetics Unit (C.E.W.), National Hospital for Neurology and Neurosurgery; Department of Neurology (S. Bhate), Department of Clinical Genetics (J.A.H., R.S.), North East Thames Regional Genetics Service, DBC Programme (T.S.J.), UCL Great Ormond Street Institute of Child Health and Department of Histopathology, and London North Genomic Laboratory Hub (T.C.), Great Ormond Street Hospital for Children NHS Foundation Trust, United Kingdom.
Shamima RahmanMitochondrial Research Group (P.F., S.R.), UCL Great Ormond Street Institute of Child Health; Metabolic Medicine Department (P.F., E.F., J.E.D., S. Batzios, A.C., M.C., P.G., S.G., S.R.), Great Ormond Street Hospital for Children NHS Foundation Trust; Neurometabolic Unit (A.L., S.H.), National Hospital for Neurology and Neurosurgery; Department of Chemical Pathology (A.L., S.H.), Great Ormond Street Hospital for Children NHS Foundation Trust; Neurogenetics Unit (C.E.W.), National Hospital for Neurology and Neurosurgery; Department of Neurology (S. Bhate), Department of Clinical Genetics (J.A.H., R.S.), North East Thames Regional Genetics Service, DBC Programme (T.S.J.), UCL Great Ormond Street Institute of Child Health and Department of Histopathology, and London North Genomic Laboratory Hub (T.C.), Great Ormond Street Hospital for Children NHS Foundation Trust, United Kingdom.ORCID 0000-0003-2088-730X
Great Ormond Street Hospital · GB
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectiveWe hypothesized that novel investigative pathways are needed to decrease diagnostic odysseys in pediatric mitochondrial disease and sought to determine the utility of clinical exome sequencing in a large cohort with suspected mitochondrial disease and to explore whether any of the traditional indicators of mitochondrial disease predict a confirmed genetic diagnosis.
methodsWe investigated a cohort of 85 pediatric patients using clinical exome sequencing and compared the results with the outcome of traditional diagnostic tests, including biochemical testing of routine parameters (lactate, alanine, and proline), neuroimaging, and muscle biopsy with histology and respiratory chain enzyme activity studies.
resultsWe established a genetic diagnosis in 36.5% of the cohort and report 20 novel disease-causing variants (1 mitochondrial DNA). Counterintuitively, routine biochemical markers were more predictive of mitochondrial disease than more invasive and elaborate muscle studies.
conclusionsWe propose using biochemical markers to support the clinical suspicion of mitochondrial disease and then apply first-line clinical exome sequencing to identify a definite diagnosis. Muscle biopsy studies should only be used in clinically urgent situations or to confirm an inconclusive genetic result. CLASSIFICATION OF EVIDENCE: This is a Class II diagnostic accuracy study showing that the combination of CSF and plasma biochemical tests plus neuroimaging could predict the presence or absence of exome sequencing confirmed mitochondrial disorders.
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