Epithelial cells and Von Gierke's disease.
Epithelial cells and not fibroblasts from human liver and amniotic fluid contain inducible glucose-6-phosphatase (G-6-Pase) activity. The diagnosis of Von Gierke's disease has been made in a patient with hepatomegaly utilizing cultured epithelial cells grown from a liver biopsy. G-6-Pase activity in epithelial cells from this patient could not be induced by dibutyryl cyclic AMP and theophylline. This is the first use of epithelial cells for diagnosis of a metabolic disease. G-6-Pase activity in cloned epithelial cells from amniotic fluid increases 2- to 3-fold after 24-hr exposure to dibutyryl cyclic AMP and theophylline. The prenatal diagnosis of Von Gierke's disease may be possible in a laboratory experienced with these techniques if epithelial cell growth is obtained from amniotic fluid.
D000653:Amniotic Fluid / Q000201:enzymology; D002478:Cells, Cultured; D004847:Epithelial Cells; D004848:Epithelium / Q000201:enzymology*; D005347:Fibroblasts / Q000201:enzymology; D005952:Glucose-6-Phosphatase / Q000378:metabolism*; D005953:Glycogen Storage Disease Type I / Q000175:diagnosis / Q000473:pathology*; D006801:Humans; D008099:Liver / Q000473:pathology*; D008722:Methods; D011296:Prenatal Diagnosis
D005952:Glucose-6-Phosphatase