Congenital sucrase-isomaltase deficiency presenting with failure to thrive, hypercalcemia, and nephrocalcinosis

John W. Belmont, Barbara Reid, William Taylor, Susan S. Baker, Warren H. Moore, Michael C. Morriss, Susan M. Podrebarac, Nancy Glass, I. David Schwartz

Research output: Contribution to journalArticle

25 Scopus citations

Abstract

Background: Disaccharide Intolerance Type I (Mendelian Interance in Man database: *222900) is a rare inborn error of metabolism resulting from mutation in sucrase-isomaltase (Enzyme Catalyzed 3.2.1.48). Usually, infants with SI deficiency come to attention because of chronic diarrhea and nutritional evidence of malabsorption. Case Presentation: We describe an atypical presentation of this disorder in a 10-month-old infant. In addition to chronic diarrhea, the child displayed severe and chronic hypercalcemia, the evaluation of which was negative. An apparently coincidental right orbital hemangioma was detected. Following identification of the SI deficiency, an appropriately sucrose-restricted, but normal calcium diet regimen was instituted which led to cessation of diarrhea, substantial weight gain, and resolution of hypercalcemia. Conclusions: This case illustrates that, similar to congenital lactase deficiency (Mendelian Interance in Man database: *223000, Alactasia, Hereditary Disaccharide Intolerance Type II), hypercalcemia may complicate neonatal Sucrase-Isomaltase deficiency. Hypercalcemia in the presence of chronic diarrhea should suggest disaccharide intolerance in young infants.

Original languageEnglish (US)
Article number4
JournalBMC Pediatrics
Volume2
DOIs
StatePublished - Apr 25 2002

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

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    Belmont, J. W., Reid, B., Taylor, W., Baker, S. S., Moore, W. H., Morriss, M. C., Podrebarac, S. M., Glass, N., & Schwartz, I. D. (2002). Congenital sucrase-isomaltase deficiency presenting with failure to thrive, hypercalcemia, and nephrocalcinosis. BMC Pediatrics, 2, [4]. https://doi.org/10.1186/1471-2431-2-4