Excessive hepatic glycogen storage in glucosephosphate isomerase deficiency.
Excessive amounts of glycogen were found in liver and erythrocytes of a patient suffering from generalized glucosephosphate isomerase deficiency. A low carbohydrate diet, frequent meals and avoidance of peak carbohydrate challenges resulted in a significant decrease of liver volume without affecting the haematological condition. The possible mechanism of these findings are discussed.
D000746:Anemia, Hemolytic, Congenital Nonspherocytic; D002648:Child; D004040:Dietary Carbohydrates; D004912:Erythrocytes / Q000378:metabolism; D005260:Female; D005632:Fructose / Q000378:metabolism; D005690:Galactose / Q000378:metabolism; D006003:Glycogen / Q000097:blood; D006801:Humans; D008099:Liver / Q000473:pathology; D008112:Liver Glycogen / Q000378:metabolism*
D004040:Dietary Carbohydrates; D008112:Liver Glycogen; D005632:Fructose; D006003:Glycogen; D005690:Galactose