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Prenatal diagnosis of pyruvate carboxylase deficiency |
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| Authors: | B H Robinson J R Toone R Petrova Benedict J E Dimmick J Oei D A Applegartht |
| Institution: | 1. The Research Institute, Hospital for Sick Children, Toronio. Ontario, Canada
B. H. Robinson, (Toronto) D. A. Applegartht, (Vancouver);2. Department of Pathology. BC Children's Hospital, Vancouver. British Columbia, Canada;3. The Research Institute, Hospital for Sick Children, Toronio. Ontario, Canada;4. Department of Pathology. BC Children's Hospital, Vancouver. British Columbia, Canada B. H. Robinson, (Toronto) D. A. Applegartht, (Vancouver) |
| 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. |
| Keywords: | Pyruvate carboxylase Citrullinemia Prenatal diagnosis |