Akademik Veri Yönetim Sistemi
MOLECULAR GENETICS AND METABOLISM REPORTS, cilt.42, 2025 (SCI-Expanded, Scopus)
Carnitine-acylcarnitine translocase deficiency (CACTD) is a rare autosomal recessive fatty acid oxidation disorder resulting in energy deficiency due to impaired mitochondrial long-chain fatty acid transport. Hyperammonemia is a critical complication, often resistant to conventional treatment. Here, we report the case of a 7-month-old patient with CACTD, initially diagnosed at 10 days old, who presented with persistent hyperammonemia despite optimized medical nutrition therapy and conventional nitrogen scavenging with sodium benzoate. When hyperammonemia persisted, carglumic acid was introduced, leading to a sustained decrease in ammonia levels and effective long-term control. Carglumic acid, typically indicated for organic acidemias, proved beneficial in this CACTD case. The administration of carglumic acid not only provided acute resolution but also stabilized ammonia levels over prolonged follow-up. This case highlights carglumic acid as a potential therapeutic option for managing hyperammonemia in CACTD, underscoring the need for further studies to confirm its efficacy in long-term management of hyperammonemia in fatty acid oxidation disorders.