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Primary systemic carnitine deficiency presenting as recurrent Reye-like syndrome and dilated cardiomyopathy
1Division of Medical Genetics, Department of Pediatrics, Chang Gung Children's Hospital, Taoyuan, Taiwan, ROC.
Insights
Systemic carnitine deficiency (SCD) is a rare metabolic disorder. Early L-carnitine treatment can resolve severe symptoms like cardiomyopathy in children with SCD.
Area of Science:
- Biochemistry
- Genetics
- Pediatrics
Background:
- Systemic carnitine deficiency (SCD) is a rare, potentially fatal metabolic disorder.
- Early diagnosis and treatment are crucial for managing SCD.
- Carnitine plays a vital role in fatty acid metabolism and energy production.
Observation:
- A 6-year-old girl presented with primary SCD, confirmed by low plasma carnitine levels.
- Clinical features included neonatal metabolic acidosis, epilepsy, recurrent infections, acute encephalopathy, and dilated cardiomyopathy.
- Hepatomegaly, hypoglycemia, and hyperammonemia were observed around age 5.
Findings:
- L-carnitine therapy (50-100 mg/kg/day) led to significant health improvement, including resolving cardiomyopathy.
- Prompt initiation of L-carnitine is effective in treating SCD symptoms.
- SCD can present with a Reye-like syndrome or dilated cardiomyopathy.
Implications:
- Early L-carnitine supplementation is critical for improving outcomes in SCD patients.
- SCD should be considered in pediatric cases of unexplained metabolic acidosis, encephalopathy, or cardiomyopathy.
- Timely diagnosis and treatment can prevent severe morbidity and mortality associated with SCD.
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.