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