Prenatal diagnosis of pyruvate carboxylase deficiency

C. Marsac*, Ch Augereau, G. Feldman, B. Wolf, T. L. Hansen, R. Berger

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

27 Scopus citations


Deficient pyruvate carboxylase activity was found in the amniotic fluid cells obtained from a pregnancy at risk for pyruvate carboxylase deficiency. The results were corroborated by four independent laboratories. The diagnosis was confirmed by the demonstration that pyruvate carboxylase activity was undetectable in all the tissues examined from the aborted fetus. This represents the first prenatal diagnosis of pyruvate carboxylase deficiency.

Original languageEnglish (US)
Pages (from-to)121-127
Number of pages7
JournalClinica Chimica Acta
Issue number1-2
StatePublished - Feb 26 1982

ASJC Scopus subject areas

  • Biochemistry
  • Clinical Biochemistry
  • Biochemistry, medical

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