CARNITINE DEFICIENCY

Course overview

CARNITINE DEFICIENCY IS A CONDITION CHARACTERIZED BY LOW CARNITINE LEVELS IN THE BODY. CARNITINE DEFICIENCY COULD BE PRIMARY (DUE TO DEFECT IN CARNITINE TRANSPORT) OR SECONDARY TO OTHER CONDITIONS. PRIMARY CARNITINE DEFICIENCY (PCD) IS INHERITED AS AN AUTOSOMAL RECESSIVE DISORDER. THE SPECTRUM OF PRESENTATION IN PCD VARIES FROM BEING ASYMPTOMATIC TO SUDDEN ONSET. TO AVOID THE COMPLICATIONS ASSOCIATED WITH THIS CONDITION, PCD MUST BE PROMPTLY DIAGNOSED AND TREATED WITH L-CARNITINE. SECONDARY CARNITINE DEFICIENCY (SCD) COULD RESULT FROM MULTIPLE CAUSES, EITHER FROM A DECREASE IN CARNITINE INTAKE OR MORE COMMONLY FROM AN INCREASE IN RENAL EXCRETION AS ACYLCARNITINE. THIS ACTIVITY REVIEWS THE CAUSES, PATHOPHYSIOLOGY, AND CLINICAL PRESENTATION OF CONDITIONS CAUSING CARNITINE DEFICIENCY. IT REVIEWS THE EVALUATION AND TREATMENT STRATEGIES OF CARNITINE DEFICIENCY AND HIGHLIGHTS THE ROLE OF THE INTERPROFESSIONAL TEAM IN EVALUATING AND TREATING PATIENTS WITH THIS CONDITION.