Clin Genet. 1975 Oct;8(4):244-50.

Prenatal diagnosis and family studies in a case of propionicacidaemia.

Gompertz D, Goodey PA, Thom H, Russell G, Johnston AW, Mellor DH, MacLean MW, Ferguson-Smith ME, Ferguson-Smith MA.

Abstract

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.

PMID:: 1183068; [PubMed - indexed for MEDLINE]

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Cited by 5 PubMed Central articles

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