Lipid dysmetabolism disease is a condition in which
lipids are stored abnormally in organs and tissues throughout the body, causing
muscle weakness (
myopathy). Usually, the diagnosis of this disease and its characterization goes through dosage of
Acyl CoA in plasma accompanied with evidence of droplets of intra-fibrils
lipids in the patient muscle biopsy. However, to understand the pathophysiological mechanisms of
lipid storage diseases, it is useful to identify the nature of
lipids deposited in muscle fiber. In this work
fatty acids and
triglycerides profile of
lipid accumulated in the muscle of people suffering from
myopathies syndromes was characterized. In particular, the analyses were carried out on the muscle biopsy of people afflicted by
lipid storage myopathy, such as
multiple acyl-coenzyme A dehydrogenase deficiency, and
neutral lipid storage disease with myopathy, and by the intramitochondrial
lipid storage dysfunctions, such as deficiencies of
carnitine palmitoyltransferase II enzyme. A single step extraction and derivatization procedure was applied to analyze
fatty acids from muscle tissues by gas chromatography with a flame ionization detector and with an electronic impact mass spectrometer.
Triglycerides, extracted by using
n-hexane, were analyzed by high performance liquid chromatography coupled to mass spectrometer equipped with an atmospheric pressure chemical ionization interface. The most representative
fatty acids in all samples were: C16:0 in the 13-24% range, C18:1n9 in the 20-52% range, and C18:2n6 in the 10-25% range. These
fatty acids were part of the most representative
triglycerides in all samples. The data obtained was statistically elaborated performing a principal component analysis. A satisfactory discrimination was obtained among the different diseases. Using component 1 vs component 3 a 43.3% of total variance was explained. Such results suggest the important role that
lipid profile characterization can have in supporting a correct diagnosis.