Vitamin-dependent genetic disorders are rare but important causes of primarily neurologic symptoms and can present with acute metabolic decompensations. Vitamin supplementation can ameliorate and prevent symptoms and improve outcomes. This review of vitamin-dependent genetic disorders provides a practice-oriented overview of the most common symptoms as well as diagnostic evaluation and treatment for pediatricians to improve awareness and knowledge of these treatable conditions.
After completing this article, readers should be able to:
Describe the pathogenesis and natural history of vitamin-dependent genetic disorders.
Describe inheritance patterns for vitamin-dependent genetic disorders.
List the common presenting features of a variety of vitamin-dependent genetic disorders.
List red flag symptoms in the neonate and infant that prompt urgent assessment for vitamin-dependent genetic disorders.
Conduct a basic evaluation when a vitamin-dependent genetic disorder is suspected.
Make pertinent subspecialty referrals to support patients with vitamin-dependent genetic disorders.
Vitamins play a critical role in neurologic, endocrinologic, psychiatric, developmental, and...