Abstract
Many features of celiac disease resemble those of intestinal sucrase-isomaltase deficiency, a recognized inborn error of metabolism. Both diseases usually present in the first few years of life, have a high familial incidence, and involve intolerance to a specific foodstuff which tends to diminish in later childhood. It is proposed that celiac disease is an inborn error of metabolism involving deficiency of an intestinal peptidase. This allows a number of aspects of celiac disease to be explained and certain predictions to be made about the disorder.
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Anderson CM, Frazer AC, French JM, Gerrard JW, Sammons HG, Smellie JM: Coeliac disease—gastrointestinal studies and the effect of dietary wheat flour. Lancet I:836–842, 1952
Dicke WK, Weijers HA, van de Kamer JH: Coeliac disease: II. The presence in wheat of a factor having a deleterious effect in cases of coeliac disease. Acta Paediat Scand 42:34–42, 1953
Frazer AC: Discussion on some problems of steatorrhoea and reduced stature. Proc Roy Soc Med 49:1009–1013, 1956
Weijers HA, Dicke WK: Coeliac disease. Adv Pediatr 9:277–318, 1957
Krainick HG, Mohn G: Weitere Untersuchungen über den schädlichen Weizenmehleffekt bei der Coeliakie: II. Die Wirkung der enzymatischen Abbauprodukte des Gliadins. Helv Paediat Acta 14:124–140, 1959
Messer M, Anderson CM, Hubbard L: Studies on the mechanism of destruction of the toxic action of wheat gluten in coeliac disease by crude papain. Gut 38:11–25, 1964
Douglas AP, Booth CC: Digestion of gluten peptides by normal human jejunal mucosa and by mucosa from patients with adult coeliac disease. Clin Sci 38:11–25, 1970
Douglas AP, Peters TJ: Peptide hydrolase activity of human intestinal mucosa in adult coeliac disease. Gut 11:15–17, 1970
Fottrell PF, Dolly JO, Dillon A, Mitchell B, McNicholl B: Multiple forms of peptidases in intestinal mucosa from children with coeliac disease, Coeliac Disease. Edited by CC Booth, RH Dowling, Edinburgh, Churchill Livingstone. 1970, pp 124–131
Crabbe PA, Douglas AP, Hobbs JR: Immunopathology and coeliac disease, Coeliac Disease.Idem.Edited by, pp 134–142
Shiner M, Ballard J: Antigen-antibody reactions in jejunal mucosa in childhood coeliac disease after gluten challenge. Lancet I: 1202–1205, 1972
Cornell HJ, Townley RRW: Investigation of possible intestinal peptidase deficiency in coeliac disease. Clin Chim Acta 43:113–125, 1973
Weijers HA, van de Kamer JH, Dicke WK, Ijsseling J: Diarrhoea caused by deficiency of sugar splitting enzymes: I. Acta Paediat Scand 50:55–71, 1961
Weijers HA, van de Kamer JH: Diarrhoea caused by deficiency of sugar splitting enzymes: II. Acta Paediat Scand 51:371–374, 1962
Auricchio S, Prader A, Mürset G, Witt G: Saccharoseintoleranz: Durchfall infolge hereditären Mengels an intestinaler saccharaseaktivität. Helv Paediat Acta 16:484–505, 1961
Prader A, Auricchio S, Mürset G: Durchfall infolge hereditären Mangels an intestinaler saccharaseaktivität (saccharoseintoleranz). Schweiz Med Wochenschr 91:465–468, 1961
Auricchio S, Dahlqvist A, Mürset G, Prader A: Isomaltose intolerance causing decreased ability to utilize dietary starch. J Pediatr 62:165–176, 1963
Anderson CM, Messer M, Townley RRW, Freeman M, Robinson MJ: Intestinal isomaltase deficiency in patients with hereditary sucrose and starch intolerance. Lancet II:556–557, 1962
Dahlqvist A: Method for assay of intestinal disaccharidases. Anal Biochem 7:18–25, 1964
Kerry KR, Townley RRW: Genetic aspects of sucrase-isomaltase deficiency. Aust Paediat J 1:223–235, 1965
Anderson CM: Histological changes in the duodenal mucosa in coeliac disease: reversibility during treatment with wheat gluten-free diet. Arch Dis Child 35:419–427, 1960
Rubin CE, Brandborg LL, Flick AL, Phelps D, Parmentier C, van Neil S: Studies of coeliac sprue: III. The effect of repeated wheat instillation into the proximal ileum of patients on a gluten-free diet. Gastroenterology 43:621–641, 1962
Bayless TM, Rubin SE, Topping TM, yardley JH, Hendrix TR: Morphologic and functional effects of gluten feeding of jejunal mucosa in coeliac disease. Coeliac Disease.Idem. pp 76–89
MacDonald WC, Dobbins WO, Rubin CE: Studies of the familial nature of coeliac sprue using biopsy of the small intestine. N Engl J Med 272:448–456, 1965
Shipman RT, Williams AL, Kay R, Townley RRW: A family study of coeliac disease: I. Genetic aspects. (Unpublished observations)
Carter CO: Personal communication
Sunshine P, Kretchmer N: Studies of small intestine during development: III. Infantile diarrhoea associated with intolerance to disaccharides. Pediatrics 34:38–50, 1964
Walker-Smith J: Transient gluten intolerance. Arch Dis Child 45:523–526, 1970
McNeish AS: Diagnosis of coeliac disease in retrospect. Arch Dis Child 43:363–364, 1968
Anderson CN, Gracey M, Burke V: Coeliac disease: some still controversial aspects. Arch Dis Child 47:292–298, 1972
Townley RRW, Barnes GL: Intestinal biopsy in childhood. (In press)
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Townley, R.R.W. Celiac disease—An inborn error of metabolism. Digest Dis Sci 18, 797–800 (1973). https://doi.org/10.1007/BF01070850
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DOI: https://doi.org/10.1007/BF01070850