Myopathies lipid metabolism

Metabolic Myopathies Glycogen Storage Disease Disorders of Lipid Metabolism Respiratory Chain Disorders Mitochondrial DNA Abnormalities Myotonias, Periodic Paralyses, and Malignant Hyperpyrexia Myotonias... 

Propofol infusion syndrome mimics the mitochondrial myopathies, in which there are specific defects in the mitochondrial respiratory chain. The clinical features of mitochondrial myopathy result from a disturbance in lipid metabolism in cardiac and skeletal muscle. These patients generally remain well until stressed by infection or starvation, although subclinical biochemical abnormalities of mitochondrial transport can be demonstrated. It has been suggested that early management of critically iU children may not include adequate calorific intake to balance the increase in metabolic demands, and that in susceptible children the diversion of metabolism to fat substrates may cause the propofol infusion sjmdrome. It is unclear if the dose or duration of propofol infusion alters this effect. As adults have larger carbohydrate stores and require lower doses of propofol for sedation, this may account for the relative rarity of the sjmdrome in adults. The authors suggested that adequate early carbohydrate intake may prevent the propofol infusion syndrome (71). 

Glutaric aciduria type II, which is a defect of P-oxida-tion, may affect muscle exclusively or in conjunction with other tissues. Glutaric aciduria type II, also termed multiple acyl-CoA dehydrogenase deficiency (Fig. 42-2), usually causes respiratory distress, hypoglycemia, hyperammonemia, systemic carnitine deficiency, nonketotic metabolic acidosis in the neonatal period and death within the first week. A few patients with onset in childhood or adult life showed lipid-storage myopathy, with weakness or premature fatigue [4]. Short-chain acyl-CoA deficiency (Fig. 42-2) was described in one woman with proximal limb weakness and exercise intolerance. Muscle biopsy showed marked accumulation of lipid droplets. Although... 

J. Radom, R. Salvayre, A. Negre, A. Maret, and L. Douste-Blazy, Metabolism of neutral lipids in cultured fibroblasts from multisystemic (or type 3) lipid storage myopathy, Eur. J. Biochem., 1987, 364, 703-708. 

Olsen, R.K., Pourfarzam, M., Morris, A.A., Dias, R.C., Knudsen, I., Andresen, B.S., Gregersen, N., and Olpin, S.E., 2004. Lipid-storage myopathy and respiratory insufficiency due to ETF QO mutations in a patient with late-onset multiple acyl-CoA dehydrogenation deficiency. Journal of Inherited Metabolic Disease. 27 671-678. 

Radom, J. Salvayre, R. Maret, A. Negre, A. Douste-Blazy, L. Metabolism of 1-pyrenedecanoic acid and accumulation of neutral fluorescent lipids in cultured fibroblasts of multisystemic lipid storage myopathy. Biochim. Biophys. Acta, Lipids Lipid Metab. 1987,920,131-139. 

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