Hepatic microsomal glucose-6-phosphatase system and sudden infant death syndrome.
Microassay techniques and monospecific antibodies were used to study the hepatic glucose-6-phosphatase system in liver samples from 55 infants who had died suddenly and unexpectedly, including 38 victims of sudden infant death syndrome (SIDS). Raised hepatic glycogen was found in 10, all of whom had a diagnosis of SIDS, and in 1 other infant who was already known to have type 1b glycogen storage disease (deficiency of transport protein T1). Of the 10 infants with raised hepatic glycogen who had a diagnosis of SIDS, 8 had glucose-6-phosphatase deficiency (type 1a glycogen storage disease), and 2 had transport protein T2 deficiency (type 1c glycogen storage disease).
Burchell
A
A
Department of Medicine, Ninewells Hospital and Medical School, University of Dundee.
Bell
J E
JE
Busuttil
A
A
Hume
R
R
D005952:Glucose-6-Phosphatase / Q000032:analysis*; D005953:Glycogen Storage Disease Type I / Q000201:enzymology; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008099:Liver / Q000032:analysis*; D008112:Liver Glycogen / Q000032:analysis; D008862:Microsomes, Liver / Q000201:enzymology; D013398:Sudden Infant Death / Q000503:physiopathology*
D008112:Liver Glycogen; D005952:Glucose-6-Phosphatase