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Methylenetetrahydrofolate reductase deficiency: Prenatal diagnosis and family studies
Author(s) -
Marquet J.,
Chadefaux B.,
Bonnefont J. P.,
Saudubray J. M.,
Zittoun J.
Publication year - 1994
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/pd.1970140106
Subject(s) - methylenetetrahydrofolate reductase , prenatal diagnosis , medicine , pregnancy , obstetrics , genetics , fetus , biology , allele , gene
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.