Abstract
The classical features of Type I glycogen storage disease (McKusick 23220) (GSD) are hepatomegaly, hypoglycaemia, and acidosis, enlargement of the kidneys and short stature. Glucose-6-phosphatase (EC 3.1.3.9) activity is defective not only in liver and kidney but also in small intestine (Fieldet al., 1965). In addition to the classical features, many patients suffer from episodes of diarrhoea (Fineet al., 1969).
At the Hospital for Sick Children, Great Ormond Street, patients with the commoner forms of hepatic glycogen storage disease have episodes of diarrhoea or loose stools more commonly than was suspected. We have investigated small intestinal function in three patients with Type I GSD by bothin vitro andin vivo techniques.
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Milla, P.J., Atherton, D.A., Leonard, J.V. et al. Disordered intestinal function in glycogen storage disease. J Inherit Metab Dis 1, 155–157 (1978). https://doi.org/10.1007/BF01805585
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DOI: https://doi.org/10.1007/BF01805585