Methylenetetrahydrofolate reductase deficiency; MTHFR (MIM 236250) is widely studied with more than 200 reported cases up to our knowledge from pediatrics to adult patients. Clinical presentation of MTHFR deficiency has a wide spectrum and its severity correlates with the degree of the enzyme activity. We report here seven pediatric cases with variable presentations including apnea at early infancy, in addition to hydrocephalus that needed drainage.

中文翻译：

---

7例亚甲基四氢叶酸还原酶缺乏症的临床表现。

亚甲基四氢叶酸还原酶缺乏症；从儿科到成年患者，据我们所知，MTHFR（MIM 236250）已广泛研究了200多个报告病例。MTHFR缺乏症的临床表现范围广，其严重程度与酶活性的程度有关。除了需要引流的脑积水外，我们在此报告了7例儿科病例，表现各异，包括婴儿早期呼吸暂停。