Plasma carnitine deficiency. Clinical observations in 51 pediatric patients

We studied the clinical spectrum associated with secondary plasma carnitine deficiency in 51 pediatric patients. Forty-three patients had total plasma carnitine values below 20 mumol/L and an additional eight patients had total values above 20 mumol/L but had low free plasma carnitine levels. The clinical presentation in the patients with total plasma carnitine deficiency included hypotonia (34 of 43), failure to thrive (27 of 43), recurrent infections (27 of 43), encephalopathy (six of 43), nonketotic hypoglycemia (seven of 43), and cardiomyopathy (nine of 43). Of the eight patients with low free and elevated esterified carnitine levels, the signs and symptoms at presentation included hypotonia (six of eight), recurrent infections (six of eight), failure to thrive (six of eight), encephalopathy (three of eight), nonketotic hypoglycemia (one of eight), and cardiomyopathy (one of eight). All patients were treated with L-carnitine. Treatment time varied from one month to 24 months (average, four months). A subjective improvement in muscle tone was seen in 24 of 38 patients, 22 of 33 patients showed acceleration of incremental growth, and infection frequency appeared to decrease in 18 of 33 patients. After therapy, the echocardiograms of all patients with cardiomyopathy normalized. There were no further hypoglycemic episodes. Of the nine patients with encephalopathy, eight showed improvement in their mental status. Three patients died of complications of their primary disorder. In our experience, secondary plasma carnitine deficiency is a common pediatric finding. The presence of failure to thrive, recurrent infections, hypotonia, encephalopathy, cardiomyopathy, or nonketotic hypoglycemia requires investigation of carnitine status.