Sucrase/isomaltase deficiency

Harms, H. K., Bertele-Harms, R. M., and Bruer-Kleis, D. (1987), Enzyme-substitution therapy with the yeast Saccharomyces cerevisiae in congenital sucrase-isomaltase deficiency, N. Engl. J. Med., 316,1306-1309. 

Insufficient digestive agents Biliary obstruction Chronic liver failure Chronic pancreatitis Cystic fibrosis Lactase deficiency Pancreatic cancer Pancreatic resection Sucrase-isomaltase deficiency... 

Sucrose (saccharose) Unsuitable in hereditary fructose intolerance, glucose/ galactose malabsorption syndrome, or sucrase-isomaltase deficiency... 

Sucrase-isomaltase deficiency usually presents clinically in infancy when sucrose and fruit are introduced in the diet, " but sometimes first presents in adulthood. The deficiency is rare in Caucasians, but more common in Eskimo groups. Deficiencies of both lactase and sucrase-isomaltase may occur secondary to other small bowel diseases (e.g., cehac disease, Crohn s disease,or acute gastroenteritis). Trehalase deficiency is a rare disorder,except in Greenland, where it occurs in 8% of the population. It is manifested by diarrhea following the ingestion of mushrooms. 

Sucrase-isomaltase deficiency can be investigated by using 50 g sucrose instead of lactose. An increase in breath hydrogen of >20 ppm (20 pL/L) within 2 hours is diagnostic. It is rarely necessary to test for trehalase deficiency, although a breath test using 25 g trehalose has been described. ... 

Muldoon C, Maguire P, Gleeson F. Onset of sucrase-isomaltase deficiency in late adulthood. Am J Gastroenterol 1999 94 2298-9. 

Oral mucositis and stomatitis Sucrase-isomaltase deficiency Toxoplasma gondii... 

An intestinal disaccharidase which catalyses the hydrolysis of sucrose into glucose and fructose. A deficiency of the enzyme occurs, along with a deficiency of the other intestinal dis-accharidases, in conditions where there is generalised disease of the intestinal wall. A congenital deficiency of sucrase, usually co-existing with isomaltase deficiency, can occur. Acquired sucrase-isomaltase deficiency has also been described but is much rarer. 

Sucrase-isomaltase deficiency Urea cycle enzyme deficiencies Phenylketonuria... 

Anti-thrombin III deficiency (40), ai-antitrypsin deficiency (40), hereditary angioedema (41) Fructose-1,6-diphosphatase deficiency (10) Sucrase-isomaltase deficiency (42) Pyridoxine-responsive anemia (43)... 

Greene, H. L., Stifel, F. B., and Herman, R. H., 1972, Dietary stimulation of sucrase in a patient with sucrase-isomaltase deficiency, Biochem. Med. 6 409. 

Sucrase-Isomaltase and Trehalase Deficiencies and Monosaccharide Malabsorption... 

Individuals with genetic deficiencies of the sucrase-isomaltase complex show symptoms of sucrose intolerance but are able to digest normal amounts of starch in a meal, without problems. The maltase activity in the glucoamylase complex, and residual activity in the sucrase-isomaltase complex (which is normally present in excess of need) is apparently sufficient to digest normal amounts of dietary starch. 

The levels of -D-galactosidase have been measured in jejunal biopsy specimens from normals and from sibling cases involving a deficiency of sucrose -d-glucohydrolase-oligo-l,6-D-glucosidase ( sucrase-isomaltase ). ... 

Electrophoresis on polyacrylamide gels of materials from brush-border membranes of siblings with a deficiency of sucrose a-D-glucohydrolase-oligo-1,6-D-glucosidase ( sucrase - isomaltase ) did not reveal the normal protein band associated with the complex. ... 

Congenital or acquired deficiencies of sucrase-isomaltase can occur. 

An intestinal disaccharidase which hydrolyses isomaltose (two glucose molecules linked by 1 6 linkages). Congenital or acquired isomaltase deficiency can occur, usually in association with sucrase deficiency. 

Isomaltase-sucrase deficiency This enzyme deficiency results in an intolerance of ingested sucrose. This disorder is found in about ten percent of Greenland s Eskimos, whereas two percent of North Americans are heterozygous for the deficiency. Treatment is to withhold dietary sucrose. 

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