The prenatal determination of glucose-6-phosphatase activity by fetal liver biopsy.
Two fetuses at risk for glucose-6-phosphatase deficiency had in utero liver biopsies. Analysis of each showed this enzyme activity to be in the normal range and the pregnancies continued. Neither child has any clinical or metabolic evidence of glucose-6-phosphatase deficiency.
Golbus
M S
MS
Department of Obstetrics, Gynecology and Reproductive Sciences, University of California, San Francisco.
Simpson
T J
TJ
Koresawa
M
M
Appelman
Z
Z
Alpers
C E
CE
D001706:Biopsy; D005260:Female; D005333:Fetus / Q000201:enzymology*; D005952:Glucose-6-Phosphatase / Q000378:metabolism*; D005953:Glycogen Storage Disease Type I / Q000175:diagnosis / Q000201:enzymology / Q000473:pathology; D006801:Humans; D008099:Liver / Q000201:enzymology / Q000473:pathology*; D011247:Pregnancy; D011296:Prenatal Diagnosis; D014463:Ultrasonography
D005952:Glucose-6-Phosphatase