Hereditary Folate Malabsorption

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Xu, C. Hereditary Folate Malabsorption. Encyclopedia. Available online: https://encyclopedia.pub/entry/4085 (accessed on 29 September 2026).

Xu C. Hereditary Folate Malabsorption. Encyclopedia. Available at: https://encyclopedia.pub/entry/4085. Accessed September 29, 2026.

Xu, Camila. "Hereditary Folate Malabsorption" Encyclopedia, https://encyclopedia.pub/entry/4085 (accessed September 29, 2026).

Xu, C. (2020, December 23). Hereditary Folate Malabsorption. In Encyclopedia. https://encyclopedia.pub/entry/4085

Xu, Camila. "Hereditary Folate Malabsorption." Encyclopedia. Web. 23 December, 2020.

Hereditary Folate Malabsorption

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This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/hereditary-folate-malabsorption

Hereditary folate malabsorption is a disorder that interferes with the body's ability to absorb certain B vitamins (called folates) from food. Folates are important for many cell functions, including the production of DNA and its chemical cousin, RNA.

genetic conditions

References

Andrews NC. When is a heme transporter not a heme transporter? When it's afolate transporter. Cell Metab. 2007 Jan;5(1):5-6.
Kronn D, Goldman ID. Hereditary Folate Malabsorption. 2008 Jun 17 [updated2017 Apr 27]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University ofWashington, Seattle; 1993-2020. Available fromhttp://www.ncbi.nlm.nih.gov/books/NBK1673/
Lasry I, Berman B, Straussberg R, Sofer Y, Bessler H, Sharkia M, Glaser F,Jansen G, Drori S, Assaraf YG. A novel loss-of-function mutation in theproton-coupled folate transporter from a patient with hereditary folatemalabsorption reveals that Arg 113 is crucial for function. Blood. 2008 Sep1;112(5):2055-61. doi: 10.1182/blood-2008-04-150276.
Min SH, Oh SY, Karp GI, Poncz M, Zhao R, Goldman ID. The clinical course andgenetic defect in the PCFT gene in a 27-year-old woman with hereditary folatemalabsorption. J Pediatr. 2008 Sep;153(3):435-7. doi:10.1016/j.jpeds.2008.04.009.
Qiu A, Jansen M, Sakaris A, Min SH, Chattopadhyay S, Tsai E, Sandoval C, Zhao R, Akabas MH, Goldman ID. Identification of an intestinal folate transporter and the molecular basis for hereditary folate malabsorption. Cell. 2006 Dec1;127(5):917-28.
Wolf G. Identification of proton-coupled high-affinity human intestinal folatetransporter mutated in human hereditary familial folate malabsorption. Nutr Rev. 2007 Dec;65(12 Pt 1):554-7. Review.
Zhao R, Matherly LH, Goldman ID. Membrane transporters and folate homeostasis:intestinal absorption and transport into systemic compartments and tissues.Expert Rev Mol Med. 2009 Jan 28;11:e4. doi: 10.1017/S1462399409000969. Review.
Zhao R, Min SH, Qiu A, Sakaris A, Goldberg GL, Sandoval C, Malatack JJ,Rosenblatt DS, Goldman ID. The spectrum of mutations in the PCFT gene, coding foran intestinal folate transporter, that are the basis for hereditary folatemalabsorption. Blood. 2007 Aug 15;110(4):1147-52.

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Subjects: Genetics & Heredity

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Update Date: 23 Dec 2020

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