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Summary A 44-year-old patient with suspected carnitine palmitoyltransferase deficiency was examined. A biopsy of quadriceps sinister was performed. Electronmicroscopy analysis revealed normal ultrastructure of fibers and nuclei. Significant changes were observed within some mitochondria. Theywere characterized by blurred cristae or were devoid of mitochondrial cristae. Small homogeneous inclusions were present inside the mitochondria. Fat droplets were seen (Fig. 1,2,3). A defect of mitochondrial enzymes was suspected. Biochemical examination of carnitine palmitoyltransferase in the muscle tissue was performed and the result was 2,0nM/mgB/min. (Norm 6,5-18 nM/mgB/min.).
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Operational Program Digital Poland, 2014-2020, Measure 2.3: Digital accessibility and usefulness of public sector information; funds from the European Regional Development Fund and national co-financing from the state budget.