缺陷的MTRR导致HMAE
中文名称
通路描述
MTRR基因缺陷导致甲基钴胺素缺乏型E（cblE；甲硫氨酸还原酶缺乏症；MIM:236270）（Wilson等人，1999年）。cblE患者表现出巨幼红细胞贫血和同型半胱氨酸升高。SAM在许多生物反应中作为甲基供体，SAM的去甲基化产生S-腺苷甲硫氨酸，后者被脱腺苷化为同型半胱氨酸。同型半胱氨酸的再甲基化由MTR催化，需要MTRR维持酶结合的钴胺素（Cbl）处于活性形式；但在cblE患者中，MTR失活，因此同型半胱氨酸积累。
英文描述
Defective MTRR causes HMAE Defects in MTRR cause methylcobalamin deficiency type E (cblE; methionine synthase reductase deficiency; MIM:236270) (Wilson et al. 1999). Patients with cblE exhibit megaloblastic anemia and hyperhomocysteinemia. SAM is used as a methyl donor in many biological reactions and demethylation of SAM produces S-adenosylhomocysteine, which is deadenosylated to form homocysteine. Homocysteine remethylation is carried out by MTR, which requires MTRR to maintain enzyme-bound cobalamin (Cbl) in its active form; but in cblE patients, MTR becomes inactivated and thus homocysteine accumulates.
所含基因
1 个基因