Neurodevelopmental and neuropsychiatric disorders in cobalamin C disease: a case report and review of the literature
- 1Department of Psychiatry, University of California San Diego School of Medicine, La Jolla, California 92093, USA;
- 2Rady Children's Hospital, San Diego, California 92123, USA;
- 3University of California San Diego School of Medicine, La Jolla, California 92093, USA;
- 4Rocky Vista University College of Osteopathic Medicine, Parker, Colorado 80134, USA;
- 5Department of Pediatrics, University of California San Diego School of Medicine, La Jolla, California 92093, USA;
- 6Rady Children's Institute for Genomic Medicine, San Diego, California 92123, USA
- Corresponding author: abesterman{at}health.ucsd.edu
Abstract
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.
- decreased adenosylcobalamin
- decreased methylcobalamin
- malabsorption of Vitamin B12
- methylmalonic acidemia
- Vitamin B12 deficiency
- Received December 17, 2021.
- Accepted January 29, 2022.
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