The data presented in this survey demonstrate that skin and muscle biopsies provide a simple and useful approach to the biochemical analysis of the lipid storage myopathies. Because of the heterogeneity of the mechanisms that may cause lipid infiltration of the muscles some parameters have to be considered first. The amount and the nature of the accumulated lipid give the first oriented approach: when triglycerides are the main accumulated material, and abnormal fatty acid mobilization can be excluded, the possibility of an impaired catabolism of the lipid has to be checked. In cases the activity of the acid and the alcaline lipases were normal, suggesting that the lipid accumulation was not secondary to a block of the neutral lipid catabolism. Three of cases had reduced muscle carnitine levels. An impaired oxidation of the long chain fatty acid might be the consequence of a carnitine deficiency leading to a triglyceride accumulation in these patients' cells. 2 patients with muscular and visceral lipid accumulation had lowered carnitine levels in organs other than skeletal muscles. Cultivated fibroblasts from one of these patients did not accumulate lipid and oxidized long and medium chain fatty acid at a normal rate. The authors conclude that the defect of fatty acid oxidation was not generalized to all of the patients' cells.
|Number of pages||7|
|Journal||Biochemistry and Experimental Biology|
|Publication status||Published - 1977|
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