A child with valproic acid-associated carnitine deficiency and carnitine-responsive cardiac dysfunction

Area of Science:

• Biochemistry
• Pharmacology
• Pediatrics

Background:

• Valproic acid (VPA) is a widely used anticonvulsant and mood-stabilizing medication.
• VPA is known to induce renal carnitine excretion, potentially leading to carnitine deficiency.
• The clinical relevance of VPA-induced carnitine deficiency remains debated, as most patients are asymptomatic.

Observation:

• A pediatric patient undergoing valproic acid therapy presented with significant cardiac dysfunction.
• Laboratory investigations revealed concurrent carnitine deficiency.
• The cardiac symptoms were severe and indicative of a critical health state.

Findings:

• The patient exhibited biochemical evidence of carnitine deficiency.
• The severity of cardiac dysfunction correlated with the carnitine deficiency.
• Carnitine replacement therapy was initiated to address the deficiency.

Implications:

• This case highlights a potential, previously under-recognized, severe complication of valproic acid therapy.
• Carnitine deficiency, even in the context of VPA use, can manifest with critical cardiac dysfunction in susceptible individuals.
• Carnitine supplementation should be considered in patients with valproic acid-associated carnitine deficiency presenting with cardiac symptoms.