Cobalamin C disease is the most common complementation class of cobalamin disorders. Here, we present a case of a 14-yr-old male with early-onset cblC disease and autism spectrum disorder (ASD) admitted to our inpatient medical service for behavioral decompensation. We use this case to highlight key aspects of the neurodevelopmental and neuropsychiatric disorders associated with cblC disease. By incorporating a comprehensive review of existing literature, we highlight salient domains of psychological impairment in cblC disease, discuss the full range of neuropsychiatric presentations, and review clinical management implications unique to cblC disease.
Keywords: Vitamin B12 deficiency; decreased adenosylcobalamin; decreased methylcobalamin; malabsorption of Vitamin B12; methylmalonic acidemia.
© 2022 Nguyen et al.; Published by Cold Spring Harbor Laboratory Press.