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:
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Authors | John W Belmont, Barbara Reid, William Taylor, Susan S Baker, Warren H Moore, Michael C Morriss, Susan M Podrebarac, Nancy Glass, I David Schwartz |
Journal | BMC pediatrics
(BMC Pediatr)
Vol. 2
Pg. 4
(Apr 25 2002)
ISSN: 1471-2431 [Electronic] England |
PMID | 12014995
(Publication Type: Case Reports, Journal Article)
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Chemical References |
- Sucrose
- Sucrase-Isomaltase Complex
- Calcium
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Topics |
- Calcium
(blood)
- Carbohydrate Metabolism, Inborn Errors
(diagnosis)
- Failure to Thrive
(etiology)
- Female
- Humans
- Infant
- Nephrocalcinosis
(etiology)
- Sucrase-Isomaltase Complex
(deficiency)
- Sucrose
(metabolism)
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