[Carnitine deficiency: a treatable cardiomyopathy]

Area of Science:

• Biochemistry
• Pediatrics
• Genetics

Background:

• Systemic carnitine deficiency (SCD) is a rare inherited metabolic disorder.
• It can lead to severe cardiomyopathy and muscle weakness.
• Early diagnosis and treatment are crucial.

Observation:

• Two brothers, aged 5 and 6, presented with progressive skeletal muscle weakness.
• Cardiomegaly, left ventricular hypertrophy, and decreased ejection fraction were observed.
• Skeletal muscle biopsies showed lipid storage myopathy and decreased carnitine levels.

Findings:

• Carnitine deficiency was confirmed in both skeletal muscle and serum.
• Myocardial biopsy revealed mitochondrial abnormalities.
• Oral DL-carnitine administration led to symptomatic improvement.

Implications:

• Carnitine deficiency should be considered in pediatric patients with unexplained cardiomyopathy and muscle weakness.
• Prompt treatment with DL-carnitine can reverse cardiac and muscular symptoms.
• This case underscores the importance of metabolic screening for cardiac conditions.