Disease
Hereditary folate malabsorption1
Gene
SLC46A1
| Inheritance | AR |
|---|---|
| Current Treatments | 5-formyltetrahydrofolate (5-formylTHF, folinic acid, Leucovorin) or the active isomer of 5-formylTHF (Isovorin or Fusilev) Parenteral (intramuscular) or high-dose oral |
| Evidence for Treatment | expert opinion |
| Non-Molecular Testing Availability | yes |
| Non-Molecular Test | CSF and serum folate levels2 |
| Disease Frequency (per 100,000) | 1.723 |
| Genes Included in Disease Frequency | JAK3, IL2RG, LCK, NHEJ1, FOXN1, PNP, PRKDC, ORAI1, IL7R, PTPRC, ADA, RAG1, RAG2, DCLRE1C, CD3D, CD3E, CD247, AK2, CORO1A, CHD7, CIITA, RFXANK, RFX5, RFXAP, DOCK8, DOCK2, LIG4, MTHFD1, NBN, SLC46A1, PGM3, RMRP, STIM1, TTC7A, ZAP70, RAC2, PAX1, LAT, NUDCD3 |
| Experimental / Investigational Therapies | https://clinicaltrials.gov/ct2/results?cond=SLC46A1&term=&cntry=&state=&city=&dist= |
References
- 1 https://www.ncbi.nlm.nih.gov/books/NBK1673/#folate-mal.Summary
- 2 https://www.ncbi.nlm.nih.gov/books/NBK1673/
- 3 www.mdpi.com/2409-515X/3/2/15/pdf
Last Updated: March 5, 2026