Folinic acid therapy in treatment of dihydropteridine reductase deficiency.
Folinic acid therapy in treatment of dihydropteridine reductase deficiency.
复制标题
亚叶酸疗法治疗二氢蝶啶还原酶缺乏症。
DOI：
10.1016/s0022-3476(87)80289-5
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发表时间：
1987
期刊：
影响因子：
--
通讯作者：
Kaufman,S
中科院分区：
文献类型：
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作者：
Irons,M;Levy,HL;O'Flynn,ME;Stack,CV;Langlais,PJ;Butler,IJ;Milstien,S;Kaufman,S
我们给三个兄弟姐妹和第四个孩子服用亚叶酸，他们患有或患有二氢蝶啶还原酶（DHPR）缺乏症。最年轻的开始亚叶酸治疗，除了神经递质前体和苯丙氨酸限制饮食在2个月大，并在2岁时有接近正常的发展没有证据的神经功能障碍。他的哥哥在51/2个月大时开始接受类似的治疗，当时早期神经系统检查结果很明显。在6岁时，他的智力迟钝和神经功能障碍的严重程度低于大多数DHPR缺乏症患者。他们的妹妹在2岁时首次接受治疗，当时她已经有严重的神经功能障碍，但几乎没有改善。一名患有严重神经功能缺损的无血缘关系男孩在9岁时开始单独使用亚叶酸治疗后显示出轻微的改善迹象。这些结果提供的证据表明，亚叶酸是重要的DHPR缺乏症的治疗，如果在婴儿早期开始，可能会防止不可逆的神经损伤。亚叶酸在DHPR缺乏症中的作用机制可能是间接增加5-甲基四氢叶酸的合成。
We gave folinic acid to three siblings, and to a fourth child, who have or had dihydropteridine reductase (DHPR) deficiency. The youngest began folinic acid therapy in addition to neurotransmitter precursors and a phenylalanine-restricted diet at age 2 months, and at 2 years of age has near normal development without evidence of neurologic impairment. His older brother began similar treatment at 51/2 months of age, when early neurologic findings were evident. At age 6 years his mental retardation and neurologic impairment are less severe than reported in most patients with DHPR deficiency. Little improvement occurred in their sister, who first received treatment at 2 years of age, when she already had severe neurologic impairment. An unrelated boy with profound neurologic impairment showed subtle signs of improvement after he began treatment with folinic acid alone at age 9 years. These results provide evidence that folinic acid is important in the treatment of DHPR deficiency and, if begun early in infancy, may prevent irreversible neurologic damage. The mechanism of folinic acid action in DHPR deficiency may be to increase indirectly the synthesis of 5-methyltetrahydrofolate.