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Cells 2018, 7(6), 46; https://doi.org/10.3390/cells7060046

Mitochondrial Fatty Acid Oxidation Disorders Associated with Short-Chain Enoyl-CoA Hydratase (ECHS1) Deficiency

1
Department of Biochemistry and Molecular Biology, Monash Biomedicine Discovery Institute, Monash University, 3800 Melbourne, Australia
2
Centre for Innate Immunity and Infectious Diseases, Hudson Institute of Medical Research, 3168 Melbourne, Australia
3
Department of Molecular and Translational Science, Monash University, 3168 Melbourne, Australia
*
Author to whom correspondence should be addressed.
Received: 24 April 2018 / Revised: 15 May 2018 / Accepted: 16 May 2018 / Published: 23 May 2018
(This article belongs to the Special Issue Mitochondrial Biology in Health and Disease)
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Abstract

Mitochondrial fatty acid β-oxidation (FAO) is the primary pathway for fatty acid metabolism in humans, performing a key role in liver, heart and skeletal muscle energy homeostasis. FAO is particularly important during times of fasting when glucose supply is limited, providing energy for many organs and tissues, including the heart, liver and brain. Deficiencies in FAO can cause life-threatening metabolic disorders in early childhood that present with liver dysfunction, hypoglycemia, dilated hypertrophic cardiomyopathy and Reye-like Syndrome. Alternatively, FAO defects can also cause ‘milder’ adult-onset disease with exercise-induced myopathy and rhabdomyolysis. Short-chain enoyl-CoA hydratase (ECHS1) is a key FAO enzyme involved in the metabolism of fatty acyl-CoA esters. ECHS1 deficiency (ECHS1D) also causes human disease; however, the clinical manifestation is unlike most other FAO disorders. ECHS1D patients commonly present with Leigh syndrome, a lethal form of subacute necrotizing encephalomyelopathy traditionally associated with defects in oxidative phosphorylation (OXPHOS). In this article, we review the clinical, biochemical and genetic features of the ESHS1D patients described to date, and discuss the significance of the secondary OXPHOS defects associated with ECHS1D and their contribution to overall disease pathogenesis. View Full-Text
Keywords: mitochondrial disease; fatty acid oxidation; short-chain enoyl-CoA hydratase; ECHS1 deficiency; metabolism; oxidative phosphorylation; OXPHOS mitochondrial disease; fatty acid oxidation; short-chain enoyl-CoA hydratase; ECHS1 deficiency; metabolism; oxidative phosphorylation; OXPHOS
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This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. (CC BY 4.0).
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Sharpe, A.J.; McKenzie, M. Mitochondrial Fatty Acid Oxidation Disorders Associated with Short-Chain Enoyl-CoA Hydratase (ECHS1) Deficiency. Cells 2018, 7, 46.

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