Clinical neurophysiology fellow Emily L. Ramirez, DO, mentored by geneticist James Gibson and neurogenetics program chief Kristina Julich, MD, recently published a thorough review of the vitamin-responsive genetic disorders of childhood. Most neurologists are familiar with well-known disorders such as pyridoxine dependency and biotinidase deficiency, but Ramirez and colleagues also discuss many less well-known conditions, providing detailed information about each disorder’s clinical presentation, diagnosis, and optimal treatment.
Not to be confused with simple vitamin deficiencies, vitamin-dependent disorders are genetic conditions that can be effectively treated with pharmacological doses of a vitamin. Vitamins play a critical role in neurologic, endocrinologic, psychiatric, developmental, and hematologic processes. Vitamins serve as cofactors for one or more enzymes, and for selected genetic disorders, supplementation with a key vitamin cofactor can dramatically alleviate the clinical manifestations of these conditions. Several vitamin-responsive conditions exist, and lifelong vitamin supplementation is generally the only effective therapy.
This practical guide to a challenging but highly treatable group of genetic disorders is conveniently synthesized in a single article. Read “Vitamin-Dependent Genetic Disorders of Childhood” in Pediatrics in Review.
