Primary systemic carnitine deficiency presenting as recurrent Reye-like syndrome and dilated cardiomyopathy.

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Hou JW

Primary systemic carnitine deficiency presenting as recurrent Reye-like syndrome and dilated cardiomyopathy.

Chang Gung Med J. 2002 Dec;25(12):832-7.

PubMed ID

12635840 [ View in PubMed

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Abstract

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.

DrugBank Data that Cites this Article

Drug Targets

Drug	Target	Kind	Organism	Pharmacological Action	Actions
Levocarnitine	Solute carrier family 22 member 5	Protein	Humans	Unknown	Not Available	Details