Remethylation defects: guidelines for clinical diagnosis and treatment
Remethylation defects: guidelines for clinical diagnosis and treatment
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DOI：
10.1007/pl00014307
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发表时间：
1998-04-01
影响因子：
3.6
通讯作者：
Zittoun, J
中科院分区：
文献类型：
--
作者：
de Baulny, HO;Gerard, M;Zittoun, J
主要的再甲基化缺陷包括共同具有甲硫氨酸合成缺陷的疾病。亚甲基四氢叶酸还原酶缺陷损害甲基四氢叶酸合成，羟钴胺（CblC/D）的胞质还原缺陷损害甲基和腺苷钴胺素的合成，甲硫氨酸合酶（CblE/G）的缺陷与甲基钴胺素合成缺陷有关。临床表现的特点是急性神经窘迫在婴儿早期。在儿童期，患者表现为进行性脑病，具有与成人发作形式相同的许多体征的终末期。事实上，两者都有或多或少严重的脊髓亚急性变性的迹象。钴胺素缺乏的患者必须通过静脉补充羟钴胺素（每剂1-2 mg）进行治疗。一些亚甲基四氢叶酸患者可能对叶酸有反应，必须进行高剂量叶酸试验。此外，口服甜菜碱补充剂（每天2-9克，取决于年龄）似乎是防止神经系统进一步恶化的有效手段。
The main remethylation defects include disorders which all have defective methionine synthesis in common. Methylenetetrahydrofolate reductase deficiency impairs methyltetrahydrofolate synthesis, defects in cytosolic reduction of hydroxocobalamin (CblC/D) impair the synthesis of both methyl- and adenosyl cobalamin and deficiencies of methionine synthase (CblE/G) are associated with defective methyl cobalamin synthesis. The clinical presentation is characterized by acute neurological distress in early infancy. In childhood, patients present with progressive encephalopathy with an end-stage which has many signs in common with the adult onset form. In fact, both have more or less severe signs of subacute degeneration of the cord. Cobalamin defective patients must be treated with parenteral supplementation of hydroxocobalamin (1-2 mg per dose). Some methylenetetrahydrofolate patients could be folate responsive and must have a high-dosage folate trial. In addition, oral betaine supplementation (2-9 g per day depending on age) appears an effective means to prevent further neurological deterioration.