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Disaccharidase deficiency

Aleksander Keselman, Erqiu Li, Jenny Maloney, Steven M Singer
Giardia duodenalis is a noninvasive luminal pathogen that impairs digestive function in its host in part by reducing intestinal disaccharidase activity. This enzyme deficiency has been shown in mice to require CD8(+) T cells. We recently showed that both host immune responses and parasite strain affected disaccharidase levels during murine giardiasis. However, high doses of antibiotics were used to facilitate infections in that study, and we therefore decided to systematically examine the effects of antibiotic use on pathogenesis and immune responses in the mouse model of giardiasis...
October 2016: Infection and Immunity
Taylor Daileda, Peter Baek, Morgan E Sutter, Kalpesh Thakkar
AIM: To investigate the utility of intestinal disaccharide analysis during esophagogastroduodenoscopy (EGD) in children, we performed a systematic review of studies examining disaccharide activity. METHODS: All full-length articles published in English during 1966-2014 were included if: (1) participants had small intestinal biopsy evaluation of disaccharide activity; (2) levels of lactase, sucrase, maltase or palatinase were reported; and (3) age of participants was under 18 years...
May 6, 2016: World Journal of Gastrointestinal Pharmacology and Therapeutics
Birthe Gericke, Mahdi Amiri, Hassan Y Naim
Osmotic diarrhea and abdominal pain in humans are oftentimes associated with carbohydrate malabsorption in the small intestine due to loss of function of microvillar disaccharidases. Disaccharidases are crucial for the digestion and the subsequent absorption of carbohydrates. This review focuses on sucrase-isomaltase as the most abundant intestinal disaccharidase and the primary or induced pathological conditions that affect its physiological function. Congenital defects are primary factors which directly influence the transport and function of sucrase-isomaltase in a healthy epithelium...
December 2016: Molecular and Cellular Pediatrics
J W L Puntis, V Zamvar
Congenital sucrase-isomaltase (SI) deficiency is a rare genetic condition characterised by a deficiency in the brush-border SI enzyme, resulting in an inability to metabolise sucrose and starches. Six cases of congenital SI deficiency treated with Sucraid (sacrosidase, a yeast-derived enzyme that facilitates sucrose digestion) are described. Typical presenting symptoms were watery diarrhoea, abdominal pain and bloating, sometimes noticeably worse after ingestion of fruit. Diagnosis is challenging since conventional hydrogen breath testing after an oral sucrose load is impractical in young children, and many laboratories no longer look for maldigested sucrose using faecal sugar chromatography...
September 2015: Archives of Disease in Childhood
Khalil El-Chammas, Sara E Williams, Adrian Miranda
OBJECTIVES: Carbohydrate intolerance or malabsorption has been suggested as a cause of chronic abdominal pain (CAP) in a subset of patients. We aimed to evaluate disaccharidase deficiencies in children with functional CAP and to correlate deficiencies with clinical features. METHOD: Patients presenting to the gastroenterology clinic at Children's Hospital of Wisconsin with abdominal pain prospectively completed a detailed demographic, history, and symptom questionnaire...
July 9, 2015: JPEN. Journal of Parenteral and Enteral Nutrition
Jihong Sun, Jingmei Lin, Kalayan Parashette, Jianjun Zhang, Rong Fan
Characterized by colonic mucosa intraepithelial lymphocytosis, lymphocytic colitis is primarily an entity presented in the middle-aged to elderly patient population. Very few large series of lymphocytic colitis of childhood occurrence are available in the medical literature. Ten cases each of lymphocytic colitis and of colonic lymphocytosis of other diagnosis, all with duodenal disaccharidases analysis data, were collected from the files of our institution. The electronic medical records were reviewed and multiple variables were analyzed...
February 2015: Pathology, Research and Practice
Balvir S Tomar
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...
September 2014: Indian Journal of Pediatrics
Ivor D Hill
No abstract text is available yet for this article.
January 2014: Journal of Pediatrics
S K Lin, J R Lambert, M L Wahlqvist
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...
March 1992: Asia Pacific Journal of Clinical Nutrition
Buford L Nichols, Bridget Adams, Christine M Roach, Chang-Xing Ma, Susan S Baker
No abstract text is available yet for this article.
November 2012: Journal of Pediatric Gastroenterology and Nutrition
Subhasree Sengupta, Abhishek Mukherjee, Lalitagauri Ray, Subhabrata Sengupta
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...
May 2013: Phytotherapy Research: PTR
Eleni Volonaki, Neil J Sebire, Osvaldo Borrelli, Keith J Lindley, Mamoun Elawad, Nikhil Thapar, Neil Shah
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...
July 2012: Journal of Pediatric Gastroenterology and Nutrition
Brent L Williams, Mady Hornig, Timothy Buie, Margaret L Bauman, Myunghee Cho Paik, Ivan Wick, Ashlee Bennett, Omar Jabado, David L Hirschberg, W Ian Lipkin
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...
2011: PloS One
Li Liu, Yun-Li Yu, Can Liu, Xin-Ting Wang, Xiao-Dong Liu, Lin Xie
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...
December 15, 2011: Biochemical Pharmacology
Richard L Mones, Abena Yankah, Diane Duelfer, Rami Bustami, Geraldine Mercer
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...
December 2011: Scandinavian Journal of Gastroenterology
Shahram Solaymani-Mohammadi, Steven M Singer
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...
October 1, 2011: Journal of Immunology: Official Journal of the American Association of Immunologists
Rafail I Kushak, Gregory Y Lauwers, Harland S Winter, Timothy M Buie
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...
May 2011: Autism: the International Journal of Research and Practice
M N Marsh, P T Crowe, K J Moriarty, A Ensari
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)...
2000: Methods in Molecular Medicine
Jun Lu, David G Grenache
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...
May 2, 2010: Clinica Chimica Acta; International Journal of Clinical Chemistry
Jens Schneider, Christin Fricke, Heike Overwin, Birgit Hofmann, Bernd Hofer
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...
December 2009: Applied and Environmental Microbiology
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