This test is for the diagnosis of fatty acid oxidation disorders with clinical features of hypoglycaemia, rhabdomyolysis, cardiac problems and abnormal liver function. These disorders affect the way the body breaks down fat. A patient with these disorders cannot use fat for energy, which causes low blood sugar and build-up of harmful substances in the blood. Some disorders of amino acid metabolism may also be detected with acyl carnitine measurements.
Plasma acylcarnitines are assessed qualitatively as part of free and total carnitine testing.