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Primary Systemic Carnitine Deficiency Presenting as Recurrent Reye-Like Syndrome and Dilated Cardiomyopathy

Author(s): Jia-Woei Hou

Journal: Chang Gung Medical Journal
ISSN 2072-0939

Volume: 25;
Issue: 12;
Start page: 832;
Date: 2002;
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Keywords: carnitine | Reye's syndrome | 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) provedby very low plasma carnitine level. Her major clinical features included neonatal metabolicacidosis, epilepsy, recurrent infections, acute encephalopathy, and dilated cardiomyopathywith 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 withresolving cardiomyopathy after the use of L-carnitine (50-100 mg/kg/day). Patients withSCD have high morbidity and mortality. If SCD is suggested as a cause of Reye-like syndromeor dilated cardiomyopathy, L-carnitine therapy should be initiated as a diagnostic testimmediately, until the definite diagnosis is confirmed.
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