Congenitalis saccharase-isomaltase defektus--a diagnózis nehézségei.

Translated title of the contribution: Congenital saccharase-isomaltase defect--diagnostic difficulties

J. B. Kovács, M. Lörincz, J. Sashegyi, A. Marton, K. Simon

Research output: Contribution to journalReview article

1 Citation (Scopus)


Seven patients with congenital sucrase-isomaltase deficiency corresponding to the known diagnostic criteria and five patients having combined disaccharidase deficiencies with unusual pattern characterized by more pronounced sucrase than lactase deficiency were found among 505 children investigated by first jejunal biopsy. On the base of the case histories, the complications and the comparative evaluation of patient and control groups' data (the latter consisted of nine untreated coeliacs) the congenital sucrase-isomaltase deficiency was found to make the patients to be especially susceptible to enteral infections and consequently to postinfectious intestinal damages. These complicated cases do not correspond to the classic diagnostic criteria of the congenital enzyme deficiency causing diagnostic errors. In order to avoid the misdiagnoses the authors suggest modification of the diagnostic criteria of congenital sucrase-isomaltase deficiency as follows: the diagnosis of congenital enzyme deficiency might be verified in spite of mild histological signs and hypolactasia if the degree of lactase deficiency repeatedly and significantly is exceeded by the degree of sucrase deficiency.

Translated title of the contributionCongenital saccharase-isomaltase defect--diagnostic difficulties
Original languageHungarian
Pages (from-to)2577-2582
Number of pages6
JournalOrvosi hetilap
Issue number48
Publication statusPublished - Nov 26 1989

ASJC Scopus subject areas

  • Medicine(all)

Fingerprint Dive into the research topics of 'Congenital saccharase-isomaltase defect--diagnostic difficulties'. Together they form a unique fingerprint.

  • Cite this

    Kovács, J. B., Lörincz, M., Sashegyi, J., Marton, A., & Simon, K. (1989). Congenitalis saccharase-isomaltase defektus--a diagnózis nehézségei. Orvosi hetilap, 130(48), 2577-2582.