Hydroxylated long-chain acylcarnitines are biomarkers of mitochondrial myopathy.

08:00 EDT 11th July 2019 | BioPortfolio

Summary of "Hydroxylated long-chain acylcarnitines are biomarkers of mitochondrial myopathy."

Plasma acylcarnitines are biomarkers of beta-oxidation and are useful in diagnosing several inborn errors of metabolism but has never been systematically investigated in patients with mitochondrial myopathy.


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This article was published in the following journal.

Name: The Journal of clinical endocrinology and metabolism
ISSN: 1945-7197


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Medical and Biotech [MESH] Definitions

A mitochondrial protein consisting of four alpha-subunits and four beta-subunits. It contains enoyl-CoA hydratase, long-chain-3-hydroxyacyl-CoA dehydrogenase, and acetyl-CoA C-acyltransferase activities and plays an important role in the metabolism of long chain FATTY ACIDS.

The alpha subunit of mitochondrial trifunctional protein. It contains both enoyl-CoA hydratase activity (EC and long-chain-3-hydroxyacyl-CoA dehydrogenase activity (EC There are four of these alpha subunits in each mitochondrial trifunctional protein molecule.

A mitochondrial encephalomyopathy characterized clinically by a mixed seizure disorder, myoclonus, progressive ataxia, spasticity, and a mild myopathy. Dysarthria, optic atrophy, growth retardation, deafness, and dementia may also occur. This condition tends to present in childhood and to be transmitted via maternal lineage. Muscle biopsies reveal ragged-red fibers and respiratory chain enzymatic defects. (From Adams et al., Principles of Neurology, 6th ed, p986)

A flavoprotein oxidoreductase that has specificity for long-chain fatty acids. It forms a complex with ELECTRON-TRANSFERRING FLAVOPROTEINS and conveys reducing equivalents to UBIQUINONE.

A long-chain fatty acid ester of carnitine which facilitates the transfer of long-chain fatty acids from cytoplasm into mitochondria during the oxidation of fatty acids.

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