Sucrase deficiency

Sucrose Cane and beet sugar. Sorghum. Pineapple. Carrot roots. In sucrase deficiency, malabsorption leads to diarrhea and flatulence. 

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. 

Sucrase deficiency comes about either by profound damage to the small intestine or more usually from an inherited defect. The gene for sucrase resides on chromosome 3, and homozygous individuals for the defective gene have sucrose intolerance. The total world incidence of the inherited intolerance is 1100, so it is very rare. What do you think would be the signs and symptoms of this enzyme defect ... 

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. 

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... 

A. Starch will be digested to small oligosaccharides and maltose, but a lower than normal amount of glucose will be produced because of the deficiency of the brush border disacchari-dases, which include sucrase and lactase. Sucrose and lactose will not be cleaved hence, there will be more maltose, sucrose, and lactose in the stool and less monosaccharides in the blood and tissues. Insulin levels will be low. 

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

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. 

On entry into the microbial cell, sucrose is hydrolyzed by an induced sucrase, and the D-fructose obtained is phosphorylated by a specific, sucrose-induced fructokinase (ATP D-fructose 6-phosphotransferase, EC 2.7.1.4)176,177 (see Scheme 2). Mutants deficient in... 

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

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. 

In the small intestine, sucrose is cleaved to glucose and fractose by sucrase. In contrast to lactase, this enzyme is rarely deficient. 

Sucrase (also called saccharase and invertase) hydrolyzes sucrose. In contrast to the abundant information available on the yeast invertase, little is known of the mammalian sucrases. The significance of invertase and lactase in absorption is illustrated by inborn errors of metabolism in which these two enzymes are absent in the intestinal secretion. (The fact that lactase deficiency does not interfere with growth indicates that the galactose needed for biosynthesis of brain lipids or lens proteins can be synthesized endogenously in amounts sufficient to fulfill the metabolic requirements.) In that case, there is an intolerance to lactose or sucrose with no increase in blood glucose levels or without an increase in the levels of disaccharides... 

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 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... 

Galactokinase deficiency (7), galactosemia (8) Hereditary fructose intolerance (9), fructose-1, 6-diphosphatase deficiency (10) Sucrase-isomadtase deficiency (11)... 

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. 

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