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. 1970 Apr;45(240):173–177. doi: 10.1136/adc.45.240.173

Congenital Lactose Malabsorption

B Levin, J M Abraham, E Ann Burgess, Patricia G Wallis
PMCID: PMC2020274  PMID: 5419986

Abstract

A breastfed female infant is described who developed from the third day of life a severe watery diarrhoea, with weight loss. This ceased when lactose was omitted from the feeds and returned when it was resumed. Intolerance to this carbohydrate was confirmed by a lactose tolerance test which showed inability to hydrolyse the disaccharide. Absorption of glucose and sucrose was normal. No other cause for the diarrhoea was established. Congenital lactose malabsorption (alactasia) was confirmed by examination of the duodenal mucosa. The lactase activity was virtually absent, and the maltase, isomaltase, and sucrase activities were normal. The differential diagnosis of the congenital and acquired forms is discussed, and the importance of intestinal mucosal enzyme assays for final confirmation of the diagnosis is stressed.

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Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. AURICCHIO S., RUBINO A., PRADER A., REY J., JOS J., FREZAL J., DAVIDSON M. INTESTINAL GLYCOSIDASE ACTIVITIES IN CONGENITAL MALABSORPTION OF DISACCHARIDES. J Pediatr. 1965 Mar;66:555–564. doi: 10.1016/s0022-3476(65)80120-2. [DOI] [PubMed] [Google Scholar]
  2. Abraham J. M., Levin B., Oberholzer V. G., Russell A. Glucose-galactose malabsorption. Arch Dis Child. 1967 Dec;42(226):592–597. doi: 10.1136/adc.42.226.592. [DOI] [PMC free article] [PubMed] [Google Scholar]
  3. BURGESS E. A., LEVIN B., MAHALANABIS D., TONGE R. E. HEREDITARY SUCROSE INTOLERANCE: LEVELS OF SUCRASE ACTIVITY IN JEJUNAL MUCOSA. Arch Dis Child. 1964 Oct;39:431–443. doi: 10.1136/adc.39.207.431. [DOI] [PMC free article] [PubMed] [Google Scholar]
  4. COZZETTO F. J. INTESTINAL LACTASE DEFICIENCY IN A PATIENT WITH CYSTIC FIBROSIS. REPORT OF A CASE WITH ENZYME ASSAY. Pediatrics. 1963 Aug;32:228–233. [PubMed] [Google Scholar]
  5. CROSBY W. H., KUGLER H. W. Intraluminal biopsy of the small intestine; the intestinal biopsy capsule. Am J Dig Dis. 1957 May;2(5):236–241. doi: 10.1007/BF02231100. [DOI] [PubMed] [Google Scholar]
  6. HOLZEL A., SCHWARZ V., SUTCLIFFE K. W. Defective lactose absorption causing malnutrition in infancy. Lancet. 1959 May 30;1(7083):1126–1128. doi: 10.1016/s0140-6736(59)90710-x. [DOI] [PubMed] [Google Scholar]
  7. Haemmerli U. P., Kistler H. J., Ammann R., Auricchio S., Prader A. Lactasemangel der Dünndarmmucosa als Ursache gewisser Formen erworbener Milchintoleranz beim Erwachsenen. Helv Med Acta. 1963 Nov;30(4):693–705. [PubMed] [Google Scholar]
  8. Holzel A. Sugar malabsorption due to deficiencies of disaccharidase activities and of monosaccharide transport. Arch Dis Child. 1967 Aug;42(224):341–352. doi: 10.1136/adc.42.224.341. [DOI] [PMC free article] [PubMed] [Google Scholar]
  9. Launiala K., Kuitunen P., Visakorpi J. K. Disaccharidases and histology of duodenal mucosa in congenital lactose malabsorption. Acta Paediatr Scand. 1966 May;55(3):257–263. doi: 10.1111/j.1651-2227.1966.tb17652.x. [DOI] [PubMed] [Google Scholar]
  10. Lifshitz F. Congenital lactase deficiency. J Pediatr. 1966 Aug;69(2):229–237. doi: 10.1016/s0022-3476(66)80325-6. [DOI] [PubMed] [Google Scholar]
  11. SUNSHINE P., KRETCHMER N. STUDIES OF SMALL INTESTINE DURING DEVELOPMENT. III. INFANTILE DIARRHEA ASSOCIATED WITH INTOLERANCE TO DISACCHARIDES. Pediatrics. 1964 Jul;34:38–50. [PubMed] [Google Scholar]

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