2024, Vol. 6, Issue 2, Part A

Vitamin-dependent genetic disorders are inherited conditions that arise due to defects in the metabolism or utilization of specific vitamins, leading to various health problems, often presenting in childhood. These disorders result from mutations in genes encoding enzymes or transport proteins involved in vitamin pathways. This review explores the pathophysiology, clinical manifestations, diagnostic strategies, and therapeutic approaches for major vitamin-dependent genetic disorders, emphasizing the importance of early detection and intervention. Vitamin-responsive conditions may arise from acquired deficiency states or inherited defects in the metabolic pathways that lead to vitamin dependence. It is critical that pediatricians in practice have a comprehensive understanding of these potentially treatable conditions.