Hereditary folate malabsorption

Definition:

Hereditary folate malabsorption (HFM) is a rare autosomal recessive disorder caused by impaired intestinal folate absorption. HFM is characterized by anemia, hypoimmunoglobulinemia, and recurrent infections. When diagnosed early, the signs and symptoms can be obviated by high oral doses of folates. Recently, several mutations were identified in the proton-coupled folate transporter (PCFT/SLC46A1) gene from patients with HFM.

References:

[1]. Andong Qiu, et al. Identification of an intestinal folate transporter and the molecular basis for hereditary folate malabsorption. Cell. 2006 Dec 1;127(5):917-28. [Content Brief]

[2]. Inbal Lasry, et al. A novel loss-of-function mutation in the proton-coupled folate transporter from a patient with hereditary folate malabsorption reveals that Arg 113 is crucial for function. Blood. 2008 Sep 1;112(5):2055-61. [Content Brief]

[3]. Inbal Lasry, et al. Hereditary folate malabsorption: a positively charged amino acid at position 113 of the proton-coupled folate transporter (PCFT/SLC46A1) is required for folic acid binding. Biochem Biophys Res Commun. 2009 Aug 28;386(3):426-31. [Content Brief]

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