The patient journey to diagnosis and treatment of congenital sucrase-isomaltase deficiency
نویسندگان
چکیده
منابع مشابه
Clinical 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 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 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 کاملDietary stimulation of sucrase in a patient with sucrase-isomaltase deficiency.
In 1961, Weijer et al. ( 1), Prader et al. ( 2) and Delaitre et al. ( 3) de scribed several children with diarrhea caused by dietary sucrose. Soon afterward Auricchio et al. ( 4, 5) demonstrated the coexistence of iso maltose and sucrose intolerance. Although all the authors produced strong indirect evidence that the disaccharide intolerance was the result of a de ficiency of sucrase and iso...
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ژورنال
عنوان ژورنال: Quality of Life Research
سال: 2021
ISSN: 0962-9343,1573-2649
DOI: 10.1007/s11136-021-02819-z