ReviewJournal of inherited metabolic disease2003
Mitochondrial disorders: clinical presentation and diagnostic dilemmas.
Review in Journal of inherited metabolic disease, 2003. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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Who cites it
17 citing papers in PubMed, 52 citations in OpenAlex.
- Glutamine metabolism in diseases associated with mitochondrial dysfunction.Molecular and cellular neurosciences · 2023Review
- A case for genomic medicine in South African paediatric patients with neuromuscular disease.Frontiers in pediatrics · 2022Article
- Knowledge and awareness of mitochondrial diseases among physicians in the tertiary hospitals in Ghana.PloS one · 2022Article
- Current progress in the therapeutic options for mitochondrial disorders.Physiological research · 2020Article
- Article
- Selective galactose culture condition reveals distinct metabolic signatures in pyruvate dehydrogenase and complex I deficient human skin fibroblasts.Metabolomics : Official journal of the Metabolomic Society · 2019Article
- Feeding difficulties, a key feature of theDisease models & mechanisms · 2018Article
- A review of anaesthetic outcomes in patients with genetically confirmed mitochondrial disorders.European journal of pediatrics · 2017Review
- Mitochondrial disorders in children: toward development of small-molecule treatment strategies.EMBO molecular medicine · 2016Review
- Mitochondrial disease associated with complex I (NADH-CoQ oxidoreductase) deficiency.Journal of inherited metabolic disease · 2015Review
- Irritable bowel syndrome may be associated with maternal inheritance and mitochondrial DNA control region sequence variants.Digestive diseases and sciences · 2014Article
- Association of fibroblast growth factor (FGF-21) as a biomarker with primary mitochondrial disorders, but not with secondary mitochondrial disorders (Friedreich Ataxia).Molecular biology reports · 2013Article
- Generation of a hypomorphic model of propionic acidemia amenable to gene therapy testing.Molecular therapy : the journal of the American Society of Gene Therapy · 2013Article
- An overview of a cohort of South African patients with mitochondrial disorders.Journal of inherited metabolic disease · 2010Article
- Aerobic exercise in children with oxidative phosphorylation defects.Neurology international · 2010Article
- Article
- Comparative analysis of the pathogenic mechanisms associated with the G8363A and A8296G mutations in the mitochondrial tRNA(Lys) gene.The Biochemical journal · 2005Article
Corrections and comments
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Authors and funding
1 author at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The number of genes known to be involved in mitochondrial energy production and the elucidation of the function of their individual transcripts is still increasing. Although at this stage it is impossible to predict the number of human genes necessary for mitochondrial biogenesis and maintenance, the total number in humans will most probably exceed the number of mitochondrial genes found in, for example, the budding yeast, which is about 800. Without doubt we have only seen the tip of the iceberg of the clinical spectrum of mitochondrial disorders. Recent findings such as mutations in structural complex II genes in certain tumours emphasize the need to think outside the classical clinical presentation. We propose the consideration of a mitochondrial disorder in every chronic, intermittent or progressive disorder with single system or multisystem involvement, even if lactic acid is normal, and discuss such dilemmas as whether we should 'scrape the barrel' in every patient that are raised by this statement. The characterization of mitochondrial and nuclear DNA mutations in patients with enzymatically established mitochondrial defects has taught us that several of the current clinical and diagnostic assumptions have to be altered or even eliminated. The most challenging future task will be the development of new diagnostic criteria covering the expanding clinical spectrum of mitochondrial disorders.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.