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Impairment of the activity of the hepatic microsomal glucose‐6‐phosphatase system in three preterm infants
Author(s) -
Hume R,
Lyall H,
Giles M,
Burchell A
Publication year - 1992
Publication title -
acta pædiatrica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.772
H-Index - 115
eISSN - 1651-2227
pISSN - 0803-5253
DOI - 10.1111/j.1651-2227.1992.tb12304.x
Subject(s) - glucose 6 phosphatase , medicine , endocrinology , glycogen , glycogen storage disease type i , microsome , glycogen storage disease , gestation , phosphatase , enzyme , alkaline phosphatase , pregnancy , biochemistry , biology , genetics
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 1 a glycogen storage disease) and two had deficiencies of T 2 , a microsomal phosphate/pyrophosphate transport protein (type lc 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.