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35th AM (2025) - Poster Session
Nitrous Oxide-Induced Delirium in the Setting of M ...
Nitrous Oxide-Induced Delirium in the Setting of MTHFR Mutation
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Pdf Summary
This case study discusses nitrous oxide-induced delirium in a 46-year-old woman with an MTHFR gene mutation, emphasizing the complex neuropsychiatric risks of nitrous oxide misuse. Nitrous oxide, though legal and widely available, can cause functional vitamin B12 deficiency by inactivating B12 and disrupting homocysteine metabolism. This leads to vascular and neuronal damage, with symptoms including confusion, tremors, hallucinations, and memory loss. Patients with MTHFR mutations are particularly vulnerable due to impaired folate metabolism, which exacerbates homocysteine accumulation.<br /><br />In this case, the patient had underlying autoimmune diseases (dermatomyositis, lupus), bilateral leg amputations, and used multiple CNS-active medications. She presented with intermittent confusion, tremors, sweating, and memory issues. Despite normal serum B12 levels, functional deficiency was revealed by an elevated homocysteine level (33.4 μmol/L). Brain imaging and EEG were normal, excluding other neurological causes.<br /><br />Management involved discontinuation of nitrous oxide use, initiation of intramuscular B12 injections transitioning to high-dose oral supplementation, and gradual reduction of sedating medications like benzodiazepines that likely worsened her delirium. Her neurological and cognitive symptoms progressively improved with this targeted approach.<br /><br />The case underlines that serum B12 alone is insufficient for assessing nitrous oxide toxicity; functional markers such as homocysteine or methylmalonic acid must be measured. It also highlights the need for increased clinician awareness, routine screening, and clearer guidelines on genetic testing and management strategies in patients exposed to nitrous oxide, especially those with MTHFR mutations. Early recognition and treatment are critical to preventing irreversible neurological injury. The study calls for better education in psychiatry and general medicine about nitrous oxide’s underestimated neuropsychiatric risks and the importance of comprehensive evaluation in suspected cases.
Keywords
nitrous oxide
delirium
MTHFR gene mutation
functional vitamin B12 deficiency
homocysteine metabolism
neuropsychiatric risks
autoimmune diseases
benzodiazepines
genetic testing
neurological injury prevention
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