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

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.

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  • Authors+Show Affiliations

    ,

    Department of Molecular Genetics, Baylor College of Medicine, Houston, TX 77030, USA. jbelmont@bcm.tmc.edu

    , , , , , , ,

    Source

    BMC pediatrics 2: 2002 Apr 25 pg 4

    MeSH

    Calcium
    Carbohydrate Metabolism, Inborn Errors
    Failure to Thrive
    Female
    Humans
    Infant
    Nephrocalcinosis
    Sucrase-Isomaltase Complex
    Sucrose

    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 -