Prenatal diagnosis of pyruvate carboxylase deficiency.
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.
D000592:Amino Acid Metabolism, Inborn Errors / Q000175:diagnosis*; D000653:Amniotic Fluid / Q000032:analysis; D001710:Biotin / Q000378:metabolism; D002478:Cells, Cultured; D002956:Citrulline / Q000097:blood*; D005260:Female; D005333:Fetus; D005347:Fibroblasts / Q000201:enzymology; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D011247:Pregnancy; D011296:Prenatal Diagnosis; D011485:Protein Binding; D015324:Pyruvate Carboxylase Deficiency Disease; D012867:Skin / Q000166:cytology
D002956:Citrulline; D001710:Biotin