Digenic Functional B12 and Folate Defect Mimicking Myelodysplasia

Thomas Cluzeau1, Abderrahim Oussalah2,3,4, Maël Silva Rodriguez2,3,4

  • 1CHU Nice-Hôpital de l'Archet 1 Nice France.

Clinical Case Reports
|January 26, 2026
PubMed
Summary

A rare genetic disorder caused a functional vitamin B12 and folate deficiency, leading to pancytopenia and neurological issues. Prompt diagnosis and treatment with vitamin B12 led to rapid recovery.

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