Methylenetetrahydrofolate reductase deficiency: Prenatal diagnosis and family studies
作者： J. Marquet , B. Chadefaux , J. P. Bonnefont , J. M. Saudubray , J. Zittoun
关键词: Methylenetetrahydrofolate reductase 、 Hyperhomocystinemia 、 Lymphocyte 、 Methylenetetrahydrofolate reductase deficiency 、 Homocystinuria 、 Prenatal diagnosis 、 Fetus 、 Asymptomatic 、 Biology 、 Internal medicine 、 Endocrinology 、 Obstetrics and gynaecology 、 Genetics(clinical)
摘要: Prenatal diagnosis of methylenetetrahydrofolate reductase (MTHFR) deficiency and family studies were performed because a severely affected first child in this family. The fetus at risk was found to be heterozygous as confirmed by the enzymatic activity assay several times after birth. In father, MTHFR normal lymphocytes decreased fibroblasts, whereas asymptomatic mother, not detectable fibroblasts very low lymphocytes. absence any clinical symptoms mother despite clear hyperhomocystinemia emphasizes heterogeneity disease.
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