Acylcarnitine profiles in fibroblasts from patients with respiratory chain defects can resemble those from patients with mitochondrial fatty acid [beta ]-oxidation disorders☆
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Time to harmonize mitochondrial syndrome nomenclature and classification: A consensus from the North American Mitochondrial Disease Consortium (NAMDC)
2022, Molecular Genetics and MetabolismA novel MT-CO2 variant causing cerebellar ataxia and neuropathy: The role of muscle biopsy in diagnosis and defining pathogenicity
2021, Neuromuscular DisordersCitation Excerpt :We identified the accumulation of medium-chain acylcarnitine species in the patient's plasma, similar to the findings reported in other pathogenic MT-CO2 variants [7,15,16], which mimic the findings in patients with primary fatty acid oxidation disorder due to multiple acyl-CoA dehydrogenase deficiency (MADD). Abnormal acylcarnitine profiles in the fibroblasts of patients with mitochondrial respiratory chain deficiencies, resembling patients with various primary fatty acid oxidation defects, were previously reported [25]. More recently, a metabolomics study of nine patients with LRPPRC-related mitochondrial disease (deficiency in this nuclear-encoded mitochondrial protein also causes isolated complex IV deficiency) identified elevated C2, C6, C12, C14, C14:1, C16, C18:1, and C18:2 acylcarnitines, suggesting the perturbation of fatty acid oxidation pathway is likely to be secondary to mitochondrial respiratory chain dysfunction [26].
Metabolomics of mitochondrial disease
2017, MitochondrionCitation Excerpt :Although this approach could shed light on the basic biochemistry of the disease, it would have been beneficial from a diagnostic point of view to compare patients suffering from MD to a disease control group, the latter being a group of patients with a different disease but displaying similar clinical symptoms. However, only a few metabolomics studies have used disease control groups, such as organic acidemia and fatty acid oxidation defects, to compare to their mitochondrial disease cohorts (Barshop, 2004; Sim et al., 2002). One of the latest studies involving metabolomics of mitochondrial disease implemented an alternative control group referred to as clinically referred controls (Venter et al., 2015), i.e. individuals who initially presented with symptoms usually associated with mitochondrial disease, but did not display a respiratory chain deficiency on enzymatic level.
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Supported in part by the Small Grants Scheme of The Children's Hospital at Westmead, Sydney, Australia.