Impairment of the activity of the hepatic microsomal glucose-6-phosphatase system in three preterm infants.
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.
Hume
R
R
Department of Obstetrics and Gynaecology, Ninewells Hospital and Medical School, University of Dundee, Scotland.
Lyall
H
H
Giles
M
M
Burchell
A
A
D001706:Biopsy; D001786:Blood Glucose / Q000032:analysis; D005260:Female; D005952:Glucose-6-Phosphatase / Q000378:metabolism*; D006003:Glycogen / Q000032:analysis*; D006008:Glycogen Storage Disease / Q000097:blood / Q000201:enzymology*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007234:Infant, Premature / Q000097:blood / Q000378:metabolism*; D008099:Liver / Q000737:chemistry* / Q000473:pathology; D008297:Male; D008862:Microsomes, Liver / Q000201:enzymology*
D001786:Blood Glucose; D006003:Glycogen; D005952:Glucose-6-Phosphatase