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

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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

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Nephrocalcinosis
Failure to Thrive
Hypercalcemia
Diarrhea
Oligo-1,6-Glucosidase
Databases
Lactose Intolerance
Sucrase
Inborn Errors Metabolism
Disaccharides
Hemangioma
Weight Gain
Sucrose
Diet
Calcium
Mutation
Congenital Sucrase-Isomaltase Deficiency
Enzymes
Congenital Lactase Deficiency

ASJC Scopus subject areas

  • Medicine(all)

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Congenital sucrase-isomaltase deficiency presenting with failure to thrive, hypercalcemia, and nephrocalcinosis. / Belmont, John W.; Reid, Barbara; Taylor, William; Baker, Susan S.; Moore, Warren H.; Morriss, Michael C.; Podrebarac, Susan M.; Glass, Nancy; Schwartz, I. David.

In: BMC Pediatrics, Vol. 2, 4, 25.04.2002.

Research output: Contribution to journalArticle

Belmont, JW, Reid, B, Taylor, W, Baker, SS, Moore, WH, Morriss, MC, Podrebarac, SM, Glass, N & Schwartz, ID 2002, 'Congenital sucrase-isomaltase deficiency presenting with failure to thrive, hypercalcemia, and nephrocalcinosis', BMC Pediatrics, vol. 2, 4. https://doi.org/10.1186/1471-2431-2-4
Belmont, John W. ; Reid, Barbara ; Taylor, William ; Baker, Susan S. ; Moore, Warren H. ; Morriss, Michael C. ; Podrebarac, Susan M. ; Glass, Nancy ; Schwartz, I. David. / Congenital sucrase-isomaltase deficiency presenting with failure to thrive, hypercalcemia, and nephrocalcinosis. In: BMC Pediatrics. 2002 ; Vol. 2.
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