Digenic Functional <scp>B12</scp> and Folate Defect Mimicking Myelodysplasia
A digenic defect involving CUBN and MTHFR produced functional B12/folate deficiency in a patient with pancytopenia and neurological signs, mimicking myelodysplasia. Genetic and metabolic screening revealed elevated methylmalonic acid/homocysteine, with rapid remission post-parenteral B12. This case highlights the need for metabolic/genetic workup in atypical cytopenias.
Authors
- Moses Rodriguez (ORCID: https://orcid.org/0000-0001-6328-6497)
- T. Cluzeau
- Mourad Naïmi (ORCID: https://orcid.org/0000-0001-6833-9359)
- Abderrahim Oussalah
Institutions
- Inserm (FR)
- Centre Hospitalier Régional et Universitaire de Nancy (FR)
- Hôpital l'Archet (FR)
- Hôpital Pasteur (FR)
- Nutrition-Génétique et Exposition aux Risques Environnementaux (FR)
- Université de Lorraine (FR)
Publication Details
- Journal
- Clinical Case Reports
- Published
- 2026-01-21
- DOI
- https://doi.org/10.1002/ccr3.71872
- Primary Topic
- Folate and B Vitamins Research
- Type
- article
- Field-Weighted Citation Impact
- 0.00