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Disaccharidase deficiency

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https://www.readbyqxmd.com/read/29762380/clinical-characteristics-of-disaccharidase-deficiencies-among-children-undergoing-upper-endoscopy
#1
Stanley A Cohen, Hannah Oloyede, Benjamin D Gold, Aminu Mohammed, Heather E Elser
OBJECTIVES: The epidemiology and clinical significance of disaccharidase deficiencies have not been thoroughly characterized. Recent work suggests at least genetic sucrase-isomaltase deficiency is more prevalent than previously believed. Because lactase deficiency (LD) is well described, the present study focuses on the clinical characteristics of children with disaccharidase deficiencies determined by esophagogastroduodenoscopy. METHODS: Endoscopic records were reviewed from patients undergoing esophagogastroduodenoscopies with biopsies assayed for disaccharidase activity performed by 13 pediatric gastroenterologists during 5 years (2010-2014)...
June 2018: Journal of Pediatric Gastroenterology and Nutrition
https://www.readbyqxmd.com/read/29762379/demographic-and-clinical-correlates-of-mucosal-disaccharidase-deficiencies-in-children-with-functional-dyspepsia
#2
Bruno P Chumpitazi, Claudia C Robayo-Torres, Cynthia M Tsai, Antone R Opekun, Susan S Baker, Buford L Nichols, Mark A Gilger
BACKGROUND: A subset of children with functional gastrointestinal disorders (FGIDs), which includes functional dyspepsia, may have duodenal disaccharidase deficiencies. OBJECTIVES: To determine the frequency, demographics, and clinical characteristics associated with duodenal disaccharidase deficiencies in children with functional dyspepsia. METHODS: Children ages 4 to 18 years undergoing esophagogastroduodenoscopy (EGD) evaluation for dyspepsia were enrolled in either a retrospective (study 1) or prospective (study 2) evaluation...
June 2018: Journal of Pediatric Gastroenterology and Nutrition
https://www.readbyqxmd.com/read/29762372/metabolic-impacts-of-maltase-deficiencies
#3
Buford L Nichols, Susan S Baker, Roberto Quezada-Calvillo
The mucosal maltase enzymes are characterized by an activity that produces glucose from linear glucose polymers, assayed with the disaccharide maltose. The related enzyme isomaltase produces glucose from branched glucose polymers, assayed with palatinose. Maltase and isomaltase activities are part of the 4 disaccharidases assayed from clinical duodenal biopsy homogenates. The reported maltase activities are more difficult to interpret than lactase or sucrase activities because both the sucrase-isomaltase and maltase-glucoamylase proteins have overlapping maltase activities...
June 2018: Journal of Pediatric Gastroenterology and Nutrition
https://www.readbyqxmd.com/read/29762371/posttranslational-processing-and-function-of-mucosal-maltases
#4
Mahdi Amiri, Hassan Y Naim
The final step of carbohydrate digestion in the intestine is performed by 2 major α-glucosidases of the intestinal mucosa, sucrase-isomaltase (SI) and maltase-glucoamylase. Both of these enzymes are type II membrane glycoproteins, which share a significant level of homology in gene and protein structures and yet have differences in the posttranslational processing, substrate specificity and functional capacity. Insufficient activity of these disaccharidases particularly SI as a result of genetic mutations or secondary intestinal pathologies is associated with carbohydrate maldigestion and gastrointestinal intolerances...
June 2018: Journal of Pediatric Gastroenterology and Nutrition
https://www.readbyqxmd.com/read/29762367/the-history-of-maltose-active-disaccharidases
#5
Michael J Lentze
The history of maltose-active disaccharidases is closely related to the history of the sugar and starch industry. It began in the 19th century, when a shortage of cane sugar occurred in continental Europe, because Napoleon Bonaparte decreed that no goods could be imported from England to the countries he occupied. Other sugar sources had to be found, and it led to the identification of sugar beets as alternative source of sugar by Marggraf in 1774, to the detection of starch hydrolysis by diluted sulfuric acid by Kirchhoff in 1812, and to the starch digestion enzyme, α-amylase, by Payen in 1833...
June 2018: Journal of Pediatric Gastroenterology and Nutrition
https://www.readbyqxmd.com/read/29491758/variable-use-of-disaccharidase-assays-when-evaluating-abdominal-pain
#6
Stanley A Cohen, Hannah Oloyede
Background and Aims: Patients with a disaccharidase deficiency typically present with abdominal discomfort and often with diarrhea. However, disaccharidase deficiency is often overlooked as a cause of these complaints. Therefore, we sought to determine the prevalence of lactase and sucrase deficiencies in a pediatric population undergoing diagnostic esophagogastroduodenoscopy (EGD) and to describe disaccharidase testing practices among pediatric gastroenterologists. Methods: Endoscopic records from patients undergoing diagnostic EGD and disaccharidase analysis (DA) were retrospectively reviewed...
January 2018: Gastroenterology & Hepatology
https://www.readbyqxmd.com/read/28514399/-disaccharidase-deficiency-and-functional-bowel-diseases
#7
A I Parfenov, O V Akhmadullina, E A Sabelnikova, N I Belostotsky, M V Kirova, S G Khomeriki, S V Bykova
AIM: To elucidate the role of intestinal carbohydrases (glucoamylase, maltase, sucrose, and lactase) in the etiology and pathogenesis of functional bowel diseases (FBD). SUBJECTS AND METHODS: 74 patients (36 men and 38 women) aged 18 to 50 years with FBD were examined. According to Rome IV criteria (2016), there was diarrhea-predominant irritable bowel syndrome (IBS) in 21 patients, functional diarrhea (FD) in 33, constipation-predominant IBS in 6, functional constipation (FC) in 4, and mixed IBS in 10...
2017: Terapevticheskiĭ Arkhiv
https://www.readbyqxmd.com/read/28512643/diagnostic-and-research-aspects-of-small-intestinal-disaccharidases-in-coeliac-disease
#8
REVIEW
Tanja Šuligoj, Paul J Ciclitira, Borut Božič
Disaccharidases (DS) are brush border enzymes embedded in the microvillous membrane of small intestinal enterocytes. In untreated coeliac disease (CD), a general decrease of DS activities is seen. This manuscript reviews different aspects of DS activities in CD: their utility in the diagnosis and their application to in vitro toxicity testing. The latter has never been established in CD research. However, with the recent advances in small intestinal organoid techniques, DS might be employed as a biomarker for in vitro studies...
2017: Journal of Immunology Research
https://www.readbyqxmd.com/read/27872184/functional-variants-in-the-sucrase-isomaltase-gene-associate-with-increased-risk-of-irritable-bowel-syndrome
#9
MULTICENTER STUDY
Maria Henström, Lena Diekmann, Ferdinando Bonfiglio, Fatemeh Hadizadeh, Eva-Maria Kuech, Maren von Köckritz-Blickwede, Louise B Thingholm, Tenghao Zheng, Ghazaleh Assadi, Claudia Dierks, Martin Heine, Ute Philipp, Ottmar Distl, Mary E Money, Meriem Belheouane, Femke-Anouska Heinsen, Joseph Rafter, Gerardo Nardone, Rosario Cuomo, Paolo Usai-Satta, Francesca Galeazzi, Matteo Neri, Susanna Walter, Magnus Simrén, Pontus Karling, Bodil Ohlsson, Peter T Schmidt, Greger Lindberg, Aldona Dlugosz, Lars Agreus, Anna Andreasson, Emeran Mayer, John F Baines, Lars Engstrand, Piero Portincasa, Massimo Bellini, Vincenzo Stanghellini, Giovanni Barbara, Lin Chang, Michael Camilleri, Andre Franke, Hassan Y Naim, Mauro D'Amato
OBJECTIVE: IBS is a common gut disorder of uncertain pathogenesis. Among other factors, genetics and certain foods are proposed to contribute. Congenital sucrase-isomaltase deficiency (CSID) is a rare genetic form of disaccharide malabsorption characterised by diarrhoea, abdominal pain and bloating, which are features common to IBS. We tested sucrase-isomaltase ( SI ) gene variants for their potential relevance in IBS. DESIGN: We sequenced SI exons in seven familial cases, and screened four CSID mutations (p...
February 2018: Gut
https://www.readbyqxmd.com/read/27456829/the-microbiota-contributes-to-cd8-t-cell-activation-and-nutrient-malabsorption-following-intestinal-infection-with-giardia-duodenalis
#10
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
https://www.readbyqxmd.com/read/27158545/disaccharidase-activity-in-children-undergoing-esophagogastroduodenoscopy-a-systematic-review
#11
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
https://www.readbyqxmd.com/read/26812950/the-multiple-roles-of-sucrase-isomaltase-in-the-intestinal-physiology
#12
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
https://www.readbyqxmd.com/read/26163121/congenital-sucrase-isomaltase-deficiency-diagnostic-challenges-and-response-to-enzyme-replacement-therapy
#13
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
https://www.readbyqxmd.com/read/26160252/disaccharidase-deficiencies-in-children-with-chronic-abdominal-pain
#14
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...
March 2017: JPEN. Journal of Parenteral and Enteral Nutrition
https://www.readbyqxmd.com/read/25523228/association-of-lymphocytic-colitis-and-lactase-deficiency-in-pediatric-population
#15
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
https://www.readbyqxmd.com/read/24596060/lactose-intolerance-and-other-disaccharidase-deficiency
#16
REVIEW
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
https://www.readbyqxmd.com/read/24359902/50-years-ago-in-the-journal-of-pediatrics-disaccharidase-deficiencies-with-steatorrhea
#17
Ivor D Hill
No abstract text is available yet for this article.
January 2014: Journal of Pediatrics
https://www.readbyqxmd.com/read/24323003/nutrition-and-gastrointestinal-disorders
#18
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
https://www.readbyqxmd.com/read/23103647/frequency-of-sucrase-deficiency-in-mucosal-biopsies
#19
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
https://www.readbyqxmd.com/read/22807302/tinospora-cordifolia-a-novel-source-of-extracellular-disaccharidases-useful-for-human-disaccharidase-deficiency-therapy
#20
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
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