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Iso-/Butyrylcarnitine
Iso-/Butyrylcarnitine
Explanation: Butyrylcarnitine and isobutyrylcarnitine are saturated fats naturally produced in the body as part of energy metabolism. Elevated levels of these compounds can indicate disruptions in fatty acid oxidation, often associated with inherited metabolic disorders such as short-chain acyl-CoA dehydrogenase (SCAD) deficiency and isobutyryl-CoA dehydrogenase (IBD) deficiency.
Test Purpose: Detect inherited disorders affecting fatty acid and amino acid metabolism, such as isobutyryl-CoA dehydrogenase deficiency.
Other information about this test: Mayo Clinic, Cleveland Clinic, ARUP Laboratories, The University of Iowa, Department of Pathology
