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Table 1 Recommended clinical evaluations and management for individuals with systemic primary carnitine deficiency

From: Systemic primary carnitine deficiency: an overview of clinical manifestations, diagnosis, and management

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