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Prenatal diagnosis of pyruvate carboxylase deficiency by direct measurement of catalytic activity on chorionic villi samples
Author(s) -
Van Coster R. N.,
Janssens S.,
Misson J.P.,
Verloes A.,
Leroy J. G.
Publication year - 1998
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/(sici)1097-0223(1998100)18:10<1041::aid-pd407>3.0.co;2-j
Subject(s) - chorionic villi , prenatal diagnosis , pregnancy , pyruvate carboxylase , fetus , chorionic villus sampling , proband , medicine , endocrinology , obstetrics , biology , enzyme , biochemistry , genetics , gene , mutation
Pyruvate carboxylase (PC) deficiency is a rare metabolic disorder in infants and children, most frequently with fatal outcome. Its prenatal diagnosis by radiometric assay in cultured amniocytes has previously been reported. We present and discuss the prenatal diagnosis of PC deficiency by direct measurement of PC activity in chorionic villi, in two subsequent pregnancies in a family who previously lost a child affected by PC deficiency. In the next pregnancy PC was unmeasurably low in chorionic villi whereas in control samples its activity was between 0·8 and 3·3 nmol min −1 mg protein −1 . Following elective termination of the pregnancy PC was shown to be totally inactive in post‐mortem fetal liver. In the most recent pregnancy of the proband's mother PC was normally active in the chorionic villi. The product of this pregnancy was a normal boy. Copyright © 1998 John Wiley & Sons, Ltd.