Disaccharidase deficiency

Intolerance to foods which contain lactose can cause a range of intestinal and systemic symptoms. These symptoms are caused by Lactase deficiency which is encoded by a single gene (LCT) of ≈ 50 kb located on chromosome 2q21. In some food items, lactose has been missed because of "hidden" lactose due to inadequately labeled, confusing diagnosis of lactose intolerance based on dietary restriction of dairy foods. Two polymorphisms, C/T13910 and G/A22018, linked to hypolactasia, correlate with breath hydrogen and symptoms after lactose...

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The gastrointestinal tract, including the liver and pancreas, is a complex system whose function is to process a wide range of nutrient and other products enabling their absorption as well as detoxification and excretion. During the process, food is converted into energy and into other substances that are used by cells throughout the entire body. Many diseases can affect the various organs of the gastrointestinal (GI) system and diet plays a relatively minor role in the onset of such GI diseases. Recently it has become clear that glutamine, a 'non-essential' amino acid, is important in the maintenance of intestinal mucosal metabolism, structure and function...

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Disaccharide intolerance is the inability to digest certain carbohydrates due to a lack of one or more intestinal disaccharidases (e.g., lactase, maltase, isomaltase and sucrase). Symptoms include diarrhea, abdominal distention and flatulence. Management of the disorder by external enzymes supplementation has not yet been attempted. We report that the medicinal plant Tinospora cordifolia contains substantial amounts of all disaccharidases required for intestinal digestion of carbohydrates. The plant is also a rich source of saccharifying amylase...

OBJECTIVES: Lower threshold and widening indications for paediatric gastrointestinal endoscopy have resulted in a significant increase in the numbers of endoscopic procedures performed in infants. Despite this, knowledge of gastrointestinal mucosal findings in this age group is limited and data on the clinical usefulness of endoscopy are lacking. METHODS: All of the children younger than 1 year referred to a single tertiary paediatric gastroenterology unit during the period June 1987 to August 2007 who underwent gastrointestinal endoscopy were identified and the clinical indications and histological outcomes were reviewed...

Gastrointestinal disturbances are commonly reported in children with autism, complicate clinical management, and may contribute to behavioral impairment. Reports of deficiencies in disaccharidase enzymatic activity and of beneficial responses to probiotic and dietary therapies led us to survey gene expression and the mucoepithelial microbiota in intestinal biopsies from children with autism and gastrointestinal disease and children with gastrointestinal disease alone. Ileal transcripts encoding disaccharidases and hexose transporters were deficient in children with autism, indicating impairment of the primary pathway for carbohydrate digestion and transport in enterocytes...

Structural and functional alterations in the gastrointestinal tract of diabetic patients are often accompanied by increase in absorption of intestinal glucose and activities of brush-border disaccharidases. The purpose of this study was to investigate the role of insulin in regulating intestinal disaccharidases using in vivo and in vitro experiments. Streptozotocin-induced diabetic rats and normal rats received protamine zinc insulin (10 IU/kg) subcutaneously twice daily for 5 weeks. Disaccharidase activities and sucrase-isomaltase (SI) complex protein and mRNA expression in intestinal regions were assessed...

BACKGROUND AND AIMS: The "gold standard" for the diagnosis of celiac disease (CD) is the small intestinal biopsy. A significant number of biopsies are inadequate for interpretation. Furthermore, the labeling of a biopsy as a Marsh I or II is somewhat subjective and may vary with the experience of the pathologist. Our hypothesis is that patients with intact villi undergoing biopsies frequently have associated disaccharidase deficiencies (DSD). METHODS: We reviewed 220 charts of pediatric patients with CD and selected those with a duodenal biopsy Marsh score of I/II...

Infection or other inflammatory insults in the small intestine often result in reduced disaccharidase enzyme levels. Using a mouse model of giardiasis, we examined the role of host immunity and pathogen virulence in mediating disaccharidase deficiency postinfection (p.i.). C57BL/6J mice were infected with two strains, WB and GS, of the human parasite Giardia duodenalis. The levels of sucrase, maltase, and lactase decreased in wild-type mice p.i. with the GS strain but not with the WB strain. Both CD4-deficient and SCID mice failed to eliminate the infection and did not exhibit disaccharidase deficiency...

Intestinal disaccharidase activities were measured in 199 individuals with autism to determine the frequency of enzyme deficiency. All patients had duodenal biopsies that were evaluated morphologically and assayed for lactase, sucrase, and maltase activity. Frequency of lactase deficiency was 58% in autistic children ≤ 5 years old and 65% in older patients. As would be expected, patients with autism at age 5 > years demonstrated significant decline in lactase activity (24%, p = .02) in comparison with ≤ 5 years old autistic patients...

The widespread use of peroral (capsule) and, more recently, endoscopically obtained mucosal biopsies from jejunum and duodenum provides an easy source of material for diagnostic (clinical) and investigative scientific study. The basis of our understanding of small intestinal diseases has stemmed directly from these sources since, in addition to the purely morphological (and pathological/immunopathological) domain, these biopsies have helped to elucidate other types of mucosal disease (e.g., the "disaccharidase" deficiencies, defects in water and electrolyte transfer, and amino acid transport and lipid metabolism)...

BACKGROUND: The definitive biochemical test for the diagnosis of disaccharidase deficiencies is the determination of enzyme activities in small bowel mucosa. Traditional methods of tissue homogenization are limited by low throughput. Lack of tissue-based quality control materials is a limitation for clinical laboratories that perform tests of the intestinal disaccharidases. The objectives of this study were to develop a method for determining disaccharidase activities using a high-throughput homogenization method and to create matrix-appropriate quality control materials...

An amylosucrase gene was subjected to high-rate segmental random mutagenesis, which was directed toward a segment encoding amino acids that influence the interaction with substrate molecules in subsites -1 to +3. A screen was used to identify enzyme variants with compromised glucan chain elongation. With an average mutation rate of about one mutation per targeted codon, a considerable fraction (82%) of the clones that retained catalytic activity were deficient in this trait. A detailed characterization of selected variants revealed that elongation terminated when chains reached lengths of only two or three glucose moieties...

BACKGROUND: Congenital lactase deficiency (CLD) is a severe gastrointestinal disorder of newborns. The diagnosis is challenging and based on clinical symptoms and low lactase activity in intestinal biopsy specimens. The disease is enriched in Finland but is also present in other parts of the world. Mutations encoding the lactase (LCT) gene have recently been shown to underlie CLD. The purpose of this study was to identify new mutations underlying CLD in patients with different ethnic origins, and to increase awareness of this disease so that the patients could be sought out and treated correctly...

OBJECTIVE: Trehalose intolerance due to alpha,alpha-trehalase deficiency has scarcely been studied. The purpose of this study was to measure alpha,alpha-trehalase activity in intestinal biopsy samples from 200 consecutive patients over a period of 6 months, and to characterize alpha,alpha-trehalase released by the probiotic Saccharomyces boulardii (S. boulardii). MATERIAL AND METHODS: Enzyme activities were measured in human and rat intestinal mucosal samples using the micromethod of Messer & Dalqvist...

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AIM: To review diagnostic approaches in chronic diseases of the small intestine. MATERIAL AND METHODS: A total of 1096 patients with chronic diseases of the small intestine were admitted to the clinic of the Central Research Institute of Gastroenterological Diseases in 1987-2006. RESULTS: Most of the patients (90.5%) had celiac disease, hypolactasia and other types of disaccharidase deficiency, yersiniosis ileitis, Krohn's disease, postresection syndrome of a short small intestine, mesenterial ischemia and endocrine enteropathy...

The pathophysiology of mucosal changes observed in infants with chronic protracted diarrhea is poorly understood. We report on two brothers suffering from a special form of sucrase isomaltase (SI) deficiency. The children presented with weight loss and dyspepsia after sucrose exposition. We performed an H respiration test, which showed a pathologic result in the younger brother. Analysis of the brush border enzyme activities showed low expression of lactase and SI. Immunoelectron microscopy of duodenal biopsies showed an isolated SI deficiency in a mosaic pattern [e...