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Early treatment using betaine and methionine for a neonate with MTHFR deficiency.

作者信息

Nishimoto Eri, Ito Yoko, Sakakibara Takafumi, Nishikubo Toshiya

机构信息

Division of Neonatal Intensive Care, Center for Perinatal Medicine, Nara Medical University Hospital, Nara, Japan.

Department of Pediatrics, Nara Medical University Hospital, Nara, Japan.

出版信息

Pediatr Int. 2019 Dec;61(12):1265-1266. doi: 10.1111/ped.14018. Epub 2019 Nov 28.

DOI:10.1111/ped.14018
PMID:31782227
Abstract
摘要

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1
Early treatment using betaine and methionine for a neonate with MTHFR deficiency.对一名患有亚甲基四氢叶酸还原酶（MTHFR）缺乏症的新生儿早期使用甜菜碱和蛋氨酸进行治疗。
Pediatr Int. 2019 Dec;61(12):1265-1266. doi: 10.1111/ped.14018. Epub 2019 Nov 28.
2
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3
Survival and psychomotor development with early betaine treatment in patients with severe methylenetetrahydrofolate reductase deficiency.早用甜菜碱治疗重症亚甲基四氢叶酸还原酶缺乏症患者的生存和精神运动发育。
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Homocysteinemia due to MTHFR deficiency in a young adult presenting with bilateral lens subluxations.一名患有双侧晶状体半脱位的年轻成人因亚甲基四氢叶酸还原酶（MTHFR）缺乏导致高同型半胱氨酸血症。
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[Methylenetetrahydrofolate Reductase deficiency and anesthesia: importance of a detailed preoperative evaluation].[亚甲基四氢叶酸还原酶缺乏与麻醉：详细术前评估的重要性]
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[Posterior-predominant leukoencephalopathy which was caused by methylenetetrahydrofolate reductase deficiency and successfully treated with folic acid].[由亚甲基四氢叶酸还原酶缺乏引起的以后部为主的白质脑病并成功用叶酸治疗]
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The 1316T>C missenses mutation in MTHFR contributes to MTHFR deficiency by targeting MTHFR to proteasome degradation.MTHFR 中的 1316T>C 错义突变通过将 MTHFR 靶向蛋白酶体降解来导致 MTHFR 缺乏。
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Pearls & oy-sters: familial epileptic encephalopathy due to methylenetetrahydrofolate reductase deficiency.珍闻与病例：亚甲基四氢叶酸还原酶缺乏所致的家族性癫痫性脑病
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Severe methylenetetrahydrofolate reductase deficiency in mice results in behavioral anomalies with morphological and biochemical changes in hippocampus.严重的亚甲基四氢叶酸还原酶缺乏症导致小鼠出现行为异常，并伴有海马体形态和生化改变。
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Novel compound heterozygous mutations of MTHFR Gene in a Chinese family with homocystinuria due to MTHFR deficiency.中国一个因 MTHFR 缺乏导致高胱氨酸尿症的家系中 MTHFR 基因的新型复合杂合突变。
BMC Med Genomics. 2022 Dec 25;15(1):271. doi: 10.1186/s12920-022-01408-4.
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Pilot Study on Neonatal Screening for Methylmalonic Acidemia Caused by Defects in the Adenosylcobalamin Synthesis Pathway and Homocystinuria Caused by Defects in Homocysteine Remethylation.
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Int J Neonatal Screen. 2021 Jul 7;7(3):39. doi: 10.3390/ijns7030039.