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

Minh G. Nguyen, Lauren Tronick, Faraz Modirian, Rebecca Mardach, Aaron D. Besterman

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish (US)
JournalCold Spring Harbor molecular case studies
Volume8
Issue number2
DOIs
StatePublished - Feb 1 2022

Keywords

  • decreased adenosylcobalamin
  • decreased methylcobalamin
  • malabsorption of Vitamin B12
  • methylmalonic acidemia
  • Vitamin B12 deficiency

ASJC Scopus subject areas

  • Biochemistry
  • Molecular Medicine
  • Genetics
  • Genetics(clinical)

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