Myopathy lipid storage

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... 

Engel AG, Angelini C (1973) Carnitine deficiency of human skeletal muscle with associated lipid storage myopathy a new syndrome. Science 179 899-902... 

In another case, there was late-onset lipid storage myopathy, with secondary carnitine deficiency (SED-13, 150) (1187). 

Papadimitriou A, Servidei S. Late onset lipid storage myopathy due to multiple acyl CoA dehydrogenase deficiency triggered by valproate. Neuromuscul Disord 1991 l(4) 247-52. 

Turnbull DM, Bartlett K, Stevens DL, Alberti KG, Gibson GJ, Johnson MA, et al. Short-chain acyl-CoA dehydrogenase deficiency associated with a lipid-storage myopathy and secondary carnitine deficiency. N Engl J Med 1984 311 1232-6. 

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. 

Short-chain acyl-CoA dehydrogenase deficiency associated with a lipid-storage myopathy and secondary carnitine deficiency. 

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. 

The inherited defects of mitochondrial fatty acid -oxidation are considered an important - and frequent - cause of disturbed energy homeostasis throughout all ages. Unfortunately, the clinical spectrum of this group of disorders is extremely variable from a lethal neonatal presentation via relatively mild lipid storage myopathy to completely symptom-free subjects. 

Engel, A.G. and Angelini, C., Carnitine deficiency of human skeletal muscle with associated lipid storage myopathy a new syndrome. Science, 179, 899-902, 1973. Pelligrini, G., Scarlato, G., and Moggio, M., A hereditary case in lipid storage myopathy with carnitine deficiency. J. Neurol., 223, 73-84, 1980. 

Snyder, T.M., Little, B.W., Roman-Campos, G., and McQuillen, J.B., Successful treatment of familial idiopathic lipid storage myopathy with L-carnitine and modified lipid diet. Neurology, 32, 1106-1115, 1982. 

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. 

Comelio, F., DiDonato, S., Peluchetti, D., Bizzi, A., Bertagnolio, B., D Angelo, A. and Weissmann, U. (1977), Fatal cases of lipid storage myopathy with carnitine deficiency. J. Neurol. Neurosurg. Psychiat., 40,170. 

Engel, A.G. and Siekert, R.G. (1972), Lipid storage myopathy responsive to prednisone. Arch. Neurol, 27,174. 

Engel, A.G., Angelini, C. and Nelson, R.A. (1974), Identification of carnitine deficiency as a cause of human lipid storage myopathy. In Exploratory Concepts. II. Control Mechanisms in Development and Formation of Muscle (ed. A.T. Milhorat), Excerpta Medica, Amsterdam, pp. 601-617. 

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