Patients with Systemic Primary Carnitine Deficiency

Patients with Systemic Primary Carnitine Deficiency have a genetic condition caused by mutations in the SLC22A5 gene. This defect prevents the body from using certain fats for energy, which is particularly critical during periods of fasting.

The clinical presentation varies by age: infants may experience hypoketotic hypoglycemia and Reye-like episodes, while children may develop cardiomyopathy and adults may experience fatigability. The condition is rare in the general US population, though it has a higher prevalence in the Faroe Islands (approximately 1:300).

Management requires lifelong L-carnitine supplementation with monitoring every 2–3 months. Innovations in this space are relevant to these patients as the condition is treatable through newborn screening and consistent supplementation.