| H01252 | |
| H番号 | H01252 |
| 名称 | 先天性葉酸吸収不全 |
| 概要 | 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. |
| カテゴリ | 先天性代謝異常症 |
| ネットワーク | - |
| 病因遺伝子 | SLC46A1 [HSA:113235] [KO:K14613] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: 5C63.1 ICD-10: D52.8 OMIM: 229050 |
| 文献 | PMID:17129779 著者 Qiu A, Jansen M, Sakaris A, Min SH, Chattopadhyay S, Tsai E, Sandoval C, Zhao R, Akabas MH, Goldman ID タイトル Identification of an intestinal folate transporter and the molecular basis for hereditary folate malabsorption. 雑誌 Cell 127:917-28 (2006) DOI:10.1016/j.cell.2006.09.041 PMID:18559978 著者 Lasry I, Berman B, Straussberg R, Sofer Y, Bessler H, Sharkia M, Glaser F, Jansen G, Drori S, Assaraf YG タイトル 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. 雑誌 Blood 112:2055-61 (2008) DOI:10.1182/blood-2008-04-150276 PMID:19508863 著者 Lasry I, Berman B, Glaser F, Jansen G, Assaraf YG タイトル 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. 雑誌 Biochem Biophys Res Commun 386:426-31 (2009) DOI:10.1016/j.bbrc.2009.06.007 |