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Prenatal diagnosis of congenital enzymopenic methaemoglobinaemia with mental retardation due to generalized cytochrome b 5 reductase deficiency: First report of two cases
Author(s) -
Junien C.,
Leroux A.,
Lostanlen D.,
Reghis A.,
Boue J.,
Nicolas H.,
Boue A.,
Kaplan J. C.
Publication year - 1981
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.1970010106
Subject(s) - fetus , cord blood , prenatal diagnosis , reductase , amniotic fluid , medicine , enzyme , pregnancy , biology , biochemistry , genetics
Prenatal diagnosis of congenital enzymopenic methaemoglobinaemia (CEM) with mental retardation was performed in two fetuses at risk for generalized NADH‐cytochrome b 5 reductase deficiency. In the first case the enzyme activity of cultured amniotic cells was in the heterozygous to normal range. The mother delivered a normal baby with normal enzyme activity in cord blood cells. In the second case, the amniotic cells were almost completely enzyme deficient. The pregnancy was terminated, and the diagnosis of homozygous NADH‐cytochrome b 5 reductase deficiency was confirmed in cord blood cells, in several different tissues and in cultured fibroblasts from the aborted fetus.