PMID: 8938697Oct 1, 1996Paper

Pathology of skeletal muscle and impaired respiratory chain function in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency with the G1528C mutation

Neuromuscular Disorders : NMD
T TyniH Pihko

Abstract

Lactic acidosis and mitochondrial abnormalities have been reported in long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency. We studied muscle morphology and the respiratory chain function in ten patients with LCHAD deficiency and the G1528C mutation. In eight cases the light microscopy of muscle specimens showed fatty infiltration and fibre degeneration. The degenerated fibres appeared as ragged red fibres in four cases. Electron microscopy revealed enlarged mitochondria often with swollen appearance in four out of seven patients. The number of mitochondria had also increased. Complex I associated enzyme activities in muscle mitochondria were decreased in five out of seven patients, and in three of them Complex II or II + III associated activities were also affected. We suggest that the reason for respiratory chain dysfunction and structural changes of mitochondria is the accumulation of toxic intermediates of fatty acid beta-oxidation in mitochondria. Because these changes may confound the differential diagnostics between LCHAD deficiency and respiratory chain defects, awareness of their frequency is important.

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Citations

Mar 27, 2012·Der Ophthalmologe : Zeitschrift der Deutschen Ophthalmologischen Gesellschaft·T AchA Schmidt-Bacher
May 16, 2013·Journal of Inherited Metabolic Disease·Simon E Olpin
Feb 11, 2004·Prostaglandins, Leukotrienes, and Essential Fatty Acids·Simon Edward Olpin
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Aug 10, 2010·Neuromuscular Disorders : NMD·Pascal Laforêt, Christine Vianey-Saban
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Jul 3, 2016·Toxicology in Vitro : an International Journal Published in Association with BIBRA·Cristiane CecattoMoacir Wajner
Jan 25, 2018·International Journal of Molecular Sciences·Sathish Kumar Natarajan, Jamal A Ibdah
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Sep 3, 2020·Cellular and Molecular Neurobiology·Graziela Schmitt Ribas, Carmen Regla Vargas
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