Marquet J, Chadefaux B, Bonnefont J P, Saudubray J M, Zittoun J
Laboratoire Central d'Hématologie, Hôpital Henri Mondor, Créteil, France.
Prenat Diagn. 1994 Jan;14(1):29-33. doi: 10.1002/pd.1970140106.
Prenatal diagnosis of methylenetetrahydrofolate reductase (MTHFR) deficiency and family studies were performed because of a severely affected first child in this family. The fetus at risk was found to be heterozygous as confirmed by the enzymatic activity assay performed several times after birth. In the father, MTHFR activity was normal in lymphocytes and decreased in fibroblasts, whereas in the asymptomatic mother, the activity was not detectable in fibroblasts and was very low in lymphocytes. The absence of any clinical symptoms in the mother despite a clear MTHFR deficiency and hyperhomocystinemia emphasizes the heterogeneity of this disease.
由于该家庭中第一个孩子病情严重，因此对亚甲基四氢叶酸还原酶（MTHFR）缺乏症进行了产前诊断并开展了家系研究。经出生后多次进行的酶活性测定证实，有患病风险的胎儿为杂合子。父亲的淋巴细胞中MTHFR活性正常，而成纤维细胞中活性降低；无症状的母亲，其成纤维细胞中未检测到该活性，淋巴细胞中的活性则非常低。尽管母亲存在明确的MTHFR缺乏症和高同型半胱氨酸血症，但未出现任何临床症状，这凸显了该疾病的异质性。
