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Congenital sucrase-isomaltase deficiency presenting with failure to thrive, hypercalcemia, and nephrocalcinosis.
BMC Pediatr 2002; 2:4BPed

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.

Authors+Show Affiliations

Department of Molecular Genetics, Baylor College of Medicine, Houston, TX 77030, USA. jbelmont@bcm.tmc.eduNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

12014995

Citation

Belmont, John W., et al. "Congenital Sucrase-isomaltase Deficiency Presenting With Failure to Thrive, Hypercalcemia, and Nephrocalcinosis." BMC Pediatrics, vol. 2, 2002, p. 4.
Belmont JW, Reid B, Taylor W, et al. Congenital sucrase-isomaltase deficiency presenting with failure to thrive, hypercalcemia, and nephrocalcinosis. BMC Pediatr. 2002;2:4.
Belmont, J. W., Reid, B., Taylor, W., Baker, S. S., Moore, W. H., Morriss, M. C., ... Schwartz, I. D. (2002). Congenital sucrase-isomaltase deficiency presenting with failure to thrive, hypercalcemia, and nephrocalcinosis. BMC Pediatrics, 2, p. 4.
Belmont JW, et al. Congenital Sucrase-isomaltase Deficiency Presenting With Failure to Thrive, Hypercalcemia, and Nephrocalcinosis. BMC Pediatr. 2002 Apr 25;2:4. PubMed PMID: 12014995.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Congenital sucrase-isomaltase deficiency presenting with failure to thrive, hypercalcemia, and nephrocalcinosis. AU - Belmont,John W, AU - Reid,Barbara, AU - Taylor,William, AU - Baker,Susan S, AU - Moore,Warren H, AU - Morriss,Michael C, AU - Podrebarac,Susan M, AU - Glass,Nancy, AU - Schwartz,I David, Y1 - 2002/04/25/ PY - 2002/02/27/received PY - 2002/04/25/accepted PY - 2002/5/17/pubmed PY - 2003/12/18/medline PY - 2002/5/17/entrez SP - 4 EP - 4 JF - BMC pediatrics JO - BMC Pediatr VL - 2 N2 - 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. SN - 1471-2431 UR - https://www.unboundmedicine.com/medline/citation/12014995/full_citation L2 - https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/12014995/ DB - PRIME DP - Unbound Medicine ER -