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Neurodevelopmental and neuropsychiatric disorders in cobalamin C disease: a case report and review of the literature

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...

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Detalles Bibliográficos
Autores principales: Nguyen, Minh G., Tronick, Lauren, Modirian, Faraz, Mardach, Rebecca, Besterman, Aaron D.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory Press 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8958916/
https://www.ncbi.nlm.nih.gov/pubmed/35105663
http://dx.doi.org/10.1101/mcs.a006179
Descripción
Sumario: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.