Abstract
Chronic diarrhoea is a recognised feature of glycogen storage disease (GSD), but the mechanism is not known. The in vivo absorption of glucose and 3-0 methyl glucose (3MG) has been studied using a steady state perfusion technique of the jejunum with simultaneous recording of the transmural potential difference (PD). Net absorption of 2mM and 56mM glucose was reduced in a patient with Type 1 GSD (0.43 & 4.94 μmols/min/cm jejunum) compared to a control group (0.55 ± 0.02 & 8.85 ± 1.07) but absorption of 56mM 3MG did not differ from that of the control group. Water was secreted during perfusion of 2mM glucose but with 56mM glucose and 3MG water absorption occurred. PD during glucose perfusion (2mM & 56mM) was less (-4.2 & -7.8 mV) than in the control group (-5.1 ± 0.1 & -8.9 ± 0.4). During 3MG perfusion PD was similar to controls. Glycogen metabolism in jejunal mucosa was studied histochemically and the in vitro uptake of glucose was measured. Histochemical studies showed the presence of glycogen and lack of glucose 6 phosphatase activity in the jejunal mucosa of affected patients whereas in the control group glucose 6 phosphatase activity was present but no glycogen could be detected. In vitro uptake of glucose (2.5 mM) was also reduced, the tissue/medium ratio was 3.98 & 15.88 (controls 36.83 ± 4.8). These studies show that in type 1 GSD there may be malabsorption of glucose, and at low luminal concentration of glucose a secretory state may exist.
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Milla, P., Atherton, D., Lake, B. et al. Disordered Intestinal Function in Glycogen Storage Disease. Pediatr Res 13, 77 (1979). https://doi.org/10.1203/00006450-197901000-00049
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DOI: https://doi.org/10.1203/00006450-197901000-00049