Congenital sucrase-isomaltase deficiency presenting with failure to thrive, hypercalcemia, and nephrocalcinosis
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چکیده
منابع مشابه
Congenital sucrase-isomaltase deficiency presenting with failure to thrive, hypercalcemia, and nephrocalcinosis
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 disor...
متن کاملClinical aspects and treatment of congenital sucrase-isomaltase deficiency.
30. Chantret I, Lacasa M, Chevalier G, et al. Sequence of the complete cDNA and the 50 structure of the human sucrase-isomaltase gene. Possible homology with a yeast glucoamylase. Biochem J 1992; 285:915–23. 31. Nichols BL, Eldering J, Avery S, et al. Human small intestinal maltaseglucoamylase cDNA cloning. Homology to sucrase-isomaltase. J Biol Chem 1998;273:3076–81. 32. Nichols BL, Avery S, S...
متن کاملDiarrhoea due to sucrase and isomaltase deficiency.
EDITORIAL COMMENT This paper draws attention to the need to consider this diagnosis in adults as well as in children. Characteristic radiological changes in the small intestine may occur when a barium meal is given with sucrose added to it. Diarrhoea due to deficiency of the intestinal disaccharidases is now well recognized in children Most of these patients have a deficiency of intestinal lact...
متن کاملThe clinical consequences of sucrase-isomaltase deficiency
Primary sucrase-isomaltase deficiency, originally thought to be a homozygous recessive disorder, has been found to have numerous genetic variants that alone or in combination (compound heterozygosity) express varying degrees of clinical illness, most commonly causing chronic diarrhea, abdominal pain, and bloating. These symptoms are also present with secondary sucrase-isomaltase deficiency. Rec...
متن کاملBreath hydrogen test and sucrase isomaltase deficiency.
Sucrose breath hydrogen tests were performed on 7 children with proved sucrase isomaltase deficiency. All children had raised breath hydrogen excretion. The amount of hydrogen produced and symptoms experienced increased with increasing sucrose loads. The sucrose breath hydrogen test appears to be a reliable indicator of sucrose malabsorption in sucrase isomaltase deficiency.
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ژورنال
عنوان ژورنال: BMC Pediatrics
سال: 2002
ISSN: 1471-2431
DOI: 10.1186/1471-2431-2-4