Glucose-6-phosphatase activity in liver and blood platelets of two patients with glycogen storage disease type I.
Glucose-6-phosphatase (G-6-Pase) activity in liver and blood platelets of two patients with glycogen storage disease (GSD) type I is described. Both patients had a reduced activity of G-6-Pase in liver. The km value for glucose 6-phosphate (G-6-P) of residual activity in liver of both patients was similar to that of control liver. We could not demonstrate any reduced activity of platelet G-6-Pase in the patients. Platelet G-6-Pase with our assay method seems to represent a nonspecific phosphatase activity. Our observation suggests that it is necessary to examine platelet G-6-Pase of many other patients with GSD type I to confirm that G-6-Pase deficiency can be diagnosed by enzyme assay performed on blood platelets.
D000409:Alanine / Q000494:pharmacology; D001786:Blood Glucose / Q000378:metabolism; D001792:Blood Platelets / Q000201:enzymology*; D002675:Child, Preschool; D005260:Female; D005690:Galactose / Q000494:pharmacology; D005934:Glucagon / Q000494:pharmacology; D005952:Glucose-6-Phosphatase / Q000097:blood / Q000378:metabolism*; D005994:Glycerophosphates / Q000494:pharmacology; D005953:Glycogen Storage Disease Type I / Q000201:enzymology*; D006801:Humans; D008099:Liver / Q000201:enzymology*; D008112:Liver Glycogen / Q000378:metabolism
D001786:Blood Glucose; D005994:Glycerophosphates; D008112:Liver Glycogen; D005934:Glucagon; D005952:Glucose-6-Phosphatase; D000409:Alanine; D005690:Galactose