缺陷的AMN导致MGA1
中文名称
通路描述
AMN缺陷导致隐性遗传巨幼红细胞性贫血1（RH-MGA1，也称为挪威型MGA1或Imerslund-Grasbeck综合征，I-GS；MIM:261100）。Imerslund描述的挪威病例是由于AMN缺陷引起的。由此产生的Cbl（维生素B12）吸收不良导致B12依赖性叶酸代谢受损，最终导致胸腺嘧啶合成和DNA复制受损。
英文描述
Defective AMN causes MGA1 Defects in AMN cause recessive hereditary megaloblastic anemia 1 (RH-MGA1 aka MGA1 Norwegian type or Imerslund-Grasbeck syndrome, I-GS; MIM:261100). The Norwegian cases described by Imerslund were due to defects in AMN (Imerslund 1960). The resultant malabsorption of Cbl (vitamin B12) leads to impaired B12-dependent folate metabolism and ultimately impaired thymine synthesis and DNA replication.
所含基因
2 个基因