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Updated: Aug 19, 2026

One-step Metabolomics: Carbohydrates, Organic and Amino Acids Quantified in a Single Procedure
Published on: June 25, 2010
Prenatal diagnosis of pyruvate carboxylase deficiency
Abstract:
Prenatal diagnosis of pyruvate carboxylase (PC) deficiency was performed in a family at risk for the acute neonatal form of this disease which manifests secondary citrullinemia. The diagnosis of an affected child was confirmed by enzyme assay and 3H-biotin labelling of proteins in cultured fetal skin fibroblasts. Sufficient amniocytes were cultured in 3-4 weeks for enzyme analysis in two centres. Citrulline concentration in amniotic fluid (AF) was normal in the affected fetus.
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