Table 1 Recommended clinical evaluations and management for individuals with systemic primary carnitine deficiency
Evaluation at time of diagnosis | Indication | Screening and surveillance |
|---|---|---|
Echocardiogram and electrocardiogram | Screen for cardiomyopathy and arrhythmias | At time of diagnosis, then annually during childhood; less frequent in adulthood; referral to cardiology if cardiomyopathy or arrhythmia are noted. |
Creatine kinase (CK) | Assess muscle involvement | At time of diagnosis, then consider measurement during acute illness |
Liver transaminases | Assess liver function | At time of diagnosis, then consider measurement during acute illness |
Pre-prandial blood sugar | Assess hypoglycemia | At time of diagnosis, then as needed |
Plasma carnitine level | Assess carnitine deficiency and monitor treatment | Obtained and monitored frequently until levels reach within normal range. Then obtain twice a year in childhood; annually in adulthood. |
Initiate referrals to genetic or metabolic specialist | Confirmation of diagnosis, molecular genetic testing, genetic counseling, treatment | At time of diagnosis, then twice a year in childhood, annually in adulthood, frequently during pregnancy |