[Disordered glucose-6-phosphate transport as a possible cause of glycogenosis type Ib].
More than ten patients with glycogen-storage disease, which were classified as patients with glycogenosis of the I type--deficiency in glucose-6-phosphatase) on the basis of clinical data and biochemical analyses in vivo, were detected within the last few years. But activity of glucose-6-phosphatase was found to be normal in biopsy of samples of the liver tissue obtained from these patients. This disease was termed as glycogenosis of the Ib type. A hypothesis is advanced, according to which the discrepancy in data on biochemical study of the patients in vivo and in vitro is due to absence of a specific permease in liver tissue, which transfers glucose-6-phosphate from cytosol onto the innesurface of membranes of cytoplasmic network, where glucose-6-phosphatase is located.
D000293:Adolescent; D001692:Biological Transport; D001786:Blood Glucose / Q000378:metabolism; D002648:Child; D002675:Child, Preschool; D004789:Enzyme Activation; D005260:Female; D005954:Glucosephosphate Dehydrogenase / Q000097:blood; D005958:Glucosephosphates / Q000097:blood*; D005953:Glycogen Storage Disease Type I / Q000097:blood / Q000209:etiology*; D006801:Humans; D007223:Infant; D007773:Lactates / Q000097:blood; D008099:Liver / Q000378:metabolism; D008112:Liver Glycogen / Q000378:metabolism; D008297:Male
D001786:Blood Glucose; D005958:Glucosephosphates; D007773:Lactates; D008112:Liver Glycogen; D005954:Glucosephosphate Dehydrogenase
O narushenii transporta gliukozo-6-fosfata kak vozmozhnoĭ prichine glikogenoza tipa Ib.