| H01252 | |
| H number | H01252 |
| Name | Hereditary folate malabsorption |
| Description | 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. |
| Category | Inherited metabolic disorder |
| Network | - |
| Gene | SLC46A1 [HSA:113235] [KO:K14613] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: 5C63.1 ICD-10: D52.8 OMIM: 229050 |
| Reference | PMID:17129779 AUTHORS Qiu A, Jansen M, Sakaris A, Min SH, Chattopadhyay S, Tsai E, Sandoval C, Zhao R, Akabas MH, Goldman ID TITLE Identification of an intestinal folate transporter and the molecular basis for hereditary folate malabsorption. JOURNAL Cell 127:917-28 (2006) DOI:10.1016/j.cell.2006.09.041 PMID:18559978 AUTHORS Lasry I, Berman B, Straussberg R, Sofer Y, Bessler H, Sharkia M, Glaser F, Jansen G, Drori S, Assaraf YG TITLE 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. JOURNAL Blood 112:2055-61 (2008) DOI:10.1182/blood-2008-04-150276 PMID:19508863 AUTHORS Lasry I, Berman B, Glaser F, Jansen G, Assaraf YG TITLE 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. JOURNAL Biochem Biophys Res Commun 386:426-31 (2009) DOI:10.1016/j.bbrc.2009.06.007 |