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Prenatal diagnosis and family studies in a case of propionicacidaemia
Author(s) -
Gompertz David,
Goodey Patricia A.,
Thom Hazel,
Russell George,
Johnston Alan W.,
Mellor David H.,
MacLean Murdoch W.,
FergusonSmith Marie E.,
FergusonSmith Malcolm A.
Publication year - 1975
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1975.tb01499.x
Subject(s) - amniocentesis , pyruvate carboxylase , prenatal diagnosis , biotin , pregnancy , medicine , heterozygote advantage , fetus , amniotic fluid , family history , enzyme , obstetrics , pediatrics , biology , genetics , biochemistry , gene , genotype
In a family with a history of two neonatal deaths, propionicacidaemia was diagnosed retrospectively from stored plasma as the cause of the second death during the mother's next pregnancy. Amniocentesis was performed and a culture of amniotic cells was assayed for propionyl CoA carboxylase activity. The absence of any detectable propionyl CoA carboxylase activity allowed the prenatal diagnosis of propionicacidaemia to be made. Treatment with biotin and a modified aminoacid diet was started in the immediate postnatal period. Investigation of propionyl CoA carboxylase in leucocytes from the parents, siblings and other relations of the patient failed to demonstrate intermediate enzyme activities in even the parents, who were presumably heterozygotes for this condition.