Impairment of the activity of the hepatic microsomal glucose-6-phosphatase system in three preterm infants

Acta Paediatr. 1992 Aug;81(8):580-4. doi: 10.1111/j.1651-2227.1992.tb12304.x.


Three preterm infants born at 26-30 weeks' gestation who died between 103 and 266 days after birth were found to have elevated hepatic glycogen levels. Kinetic analysis of the hepatic microsomal glucose-6-phosphatase system demonstrated that one infant had abnormally low levels of activity of the glucose-6-phosphatase enzyme (partial type 1a glycogen storage disease) and two had deficiencies of T2, a microsomal phosphate/pyrophosphate transport protein (type 1c glycogen storage disease). In all three cases glycogen storage disease was not suspected prior to death even though both hypo- and hyperglycaemic episodes were recorded in the first 15 days after birth indicating that they had somewhat disordered blood glucose regulation. In the infant with low glucose-6-phosphatase enzyme activity, abnormal development of the glucose-6-phosphatase enzyme cannot be ruled out. This is the first description of abnormalities in the glucose-6-phosphatase system in preterm infants.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Biopsy
  • Blood Glucose / analysis
  • Female
  • Glucose-6-Phosphatase / metabolism*
  • Glycogen / analysis*
  • Glycogen Storage Disease / blood
  • Glycogen Storage Disease / enzymology*
  • Humans
  • Infant
  • Infant, Newborn
  • Infant, Premature / blood
  • Infant, Premature / metabolism*
  • Liver / chemistry*
  • Liver / pathology
  • Male
  • Microsomes, Liver / enzymology*


  • Blood Glucose
  • Glycogen
  • Glucose-6-Phosphatase