Abstract
Glycogen storage disease type I (GSD I) (McKusick 232200) is caused by inherited defects of the glucose-6-phosphatase complex. Patients with GSD Ia as well as patients with GSD Ib may suffer from intermittent diarrhoea, which seems to worsen with age. The cause of this diarrhoea is unknown. This study describes the results of investigations of intestinal functions and morphology in patients with GSD Ia and GSD Ib, which were performed to detect a common cause for chronic diarrhoea in GSD I. The following were investigated: faecal fat excretion, faecal α1-antitrypsin and faecal chymotrypsin, expiratory H2 concentrations, persorption of cornstarch in urine and colonic biopsies. With the investigations presented in this study, no common cause for diarrhoea in GSD I was found. In GSD Ib loss of mucosal barrier function due to inflammation, documented by increased faecal α1-antitrypsin excretion (3.5–9.6 mg/g dry faeces) and inflammation in the colonic biopsies, seems to be the main cause. The inflammation is most likely related to disturbed neutrophil function, which is often found in GSD Ib. Whether another cause is involved in GSD Ia and in GSD Ib, related to the disturbed function of glucose-6-phosphatase in the enterocyte, remains to be investigated.
This is a preview of subscription content, log in via an institution to check access.
Similar content being viewed by others
REFERENCES
Fernandes J, Saudubray J-M, Berghe G vd (2000) Glycogen storage diseases. In Fernandes J, Chen Y-T, eds. Inborn Metabolic Diseases. Berlin: Springer-Verlag, 85-93.
Field JB, Epstein S, Egan T (1965) Studies in glycogen storage diseases. 1. Intestinal glucose-6-phosphatase activity in patients with von Gierke's disease and their parents. J Clin Invest 7: 1240-1247.
Fine RN, Kogut MD, Donnell, GN (1969) Intestinal absorption in type 1 glycogen storage disease. J Pediatr 75: 632-635.
Gitzelmann R, Spycher MA (1993) Oral cornstarch therapy: is persorption harmless? Eur J Pediatr 152: 592-594.
Guandalini S, Lentze M (2000) Acute and persistent diarrhoea. In Walker W, Durie P, Hamilton J, Walker-Smith J, Watkins J, eds. Pediatric Gastrointestinal Disease. Hamilton: BC Decker, 28-55.
Lei K-J, Shelly LL, Lin B, Sidbury JB, Chen Y-T, Nordlie RC (1995) Mutations in the glucose-6-phosphatase gene are associatgd with glycogen storage disease type la and 1asp but not lb and lc. J Clin Invest 95: 234-240.
Meyers S (1997) Systemic amyloidosis complicating inflam matory bowel disease. Gastroenterology 113: 731.
Milla PJ, Atherton DA, Leonard JV, Wolff OH (1978) Disordered intestinal function in glycogen storage disease. J Inherit Metab Dis 1: 155-157.
Moran A, Husband D, Jones AF, Asquith P (1995) Diagnostic value of a guaic occult blood test and faecal alpha-1-antitrypsin. Gut 36: 87-89.
Narisawa K, Otomo H, Igarashi Y, et al (1983) Glycogen storage disease type lb:Microsomal glucose-6-phosphatase system in two patients with different clinical findings. Pediatrics 17: 545-549.
Pan CJ, Lei KJ, Annabi B, Hernrika W, Chou JY (1998) Transmembrane topology of glucose-6-phosphatase. J Biol Chem 273: 6144-6148.
Roe TE Coates TD, Thornas DW, Miller JH, Gilsanz V (1992) Brief report: treatment of chronic inflammatory bowel disease in glycogen storage disease type lb with colony-stimulating factors. N Engl J Med 326: 1666-1669.
Schroten H, Roesler J, Breidenbach T, et al (1991) Granulocyte and granulocyte-macrophage colony-stimulating factors for treatment of neutropenia in glycogen storage disease type lb. J Pediatr 119: 748-754.
Shanahan F, Bernstein CN (1993) Odd forms of inflammatory bowel disease: what can they tell us? Gastroenterology 104: 327-329.
Talente GM, Coleman RA, Alter C, et al (1994) Glycogen storage disease in adults. Ann Intern Med 120: 218-226.
Veiga-da-Cunha M, Gerin I, Chen YT, et al (1999) The putative glucose 6-phosphate translocase gene is mutated in essentially all cases of glycogen storage disease type I non-a. {tiEur J Hum Genet} 7: 717-723.
Visser G, Rake JP, Fernandes J, et al (2000) Neutropenia, neutrophil dysfunction and inflammatory bowel disease in glycogen storage disease type 1b. J Pediatr 137: 187-191.
Yamaguchi T, Ihara K, Matsumoto T, et al (2001). Inflammatory bowel disease-like colitis in glycogen storage disease type lb. Inflamm Bowel Dis 7: 128-132.
Author information
Authors and Affiliations
Corresponding author
Rights and permissions
About this article
Cite this article
Visser, G., Rake, J.P., Kokke, F.T.M. et al. Intestinal function in glycogen storage disease type I. J Inherit Metab Dis 25, 261–267 (2002). https://doi.org/10.1023/A:1016572706488
Issue Date:
DOI: https://doi.org/10.1023/A:1016572706488