Primary systemic carnitine deficiency presenting as recurrent Reye-like syndrome and dilated cardiomyopathy.
Carnitine deficiency syndrome is a rare and potentially fatal but treatable metabolic disorder. I present a 6-year-old girl with primary systemic carnitine deficiency (SCD) proved by very low plasma carnitine level. Her major clinical features included neonatal metabolic acidosis, epilepsy, recurrent infections, acute encephalopathy, and dilated cardiomyopathy with heart failure before 4 years of age. Other features such as hepatomegaly, hypoglycemia, or hyperammonemia were noted around 5 years of age. Her health improved with resolving cardiomyopathy after the use of L-carnitine (50-100 mg/kg/day). Patients with SCD have high morbidity and mortality. If SCD is suggested as a cause of Reye-like syndrome or dilated cardiomyopathy, L-carnitine therapy should be initiated as a diagnostic test immediately, until the definite diagnosis is confirmed.
Hou
Jia-Woei
JW
Division of Medical Genetics, Department of Pediatrics, Chang Gung Children's Hospital, Taoyuan, Taiwan, ROC.
D002311:Cardiomyopathy, Dilated / Q000209:etiology*; D002331:Carnitine / Q000172:deficiency*; D002648:Child; D005260:Female; D006801:Humans; D012008:Recurrence; D012202:Reye Syndrome / Q000209:etiology*
D002331:Carnitine