Malabsorption Definition
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Sucrase-Isomaltase Deficiency Causing Persistent Bloating and Diarrhea in an Adult Female
Open Access Case Report DOI: 10.7759/cureus.14349 Sucrase-Isomaltase Deficiency Causing Persistent Bloating and Diarrhea in an Adult Female Varsha Chiruvella 1 , Ayesha Cheema 1 , Hafiz Muhammad Sharjeel Arshad 2 , Jacqueline T. Chan 3 , John Erikson L. Yap 2 1. Internal Medicine, Medical College of Georgia at Augusta University, Augusta, USA 2. Gastroenterology and Hepatology, Medical College of Georgia at Augusta University, Augusta, USA 3. Pediatric Endocrinology, Medical College of Georgia at Augusta University, Augusta, USA Corresponding author: Varsha Chiruvella, [email protected] Abstract Congenital sucrase isomaltase deficiency (CSID) is an autosomal recessive disorder which leads to chronic intestinal malabsorption of nutrients from ingested starch and sucrose. Symptoms usually present after consumption of fruits, juices, grains, and starches, leading to failure to thrive and malnutrition. Diagnosis is suspected on detailed patient history and confirmed by a disaccharidase assay using small intestinal biopsies or sucrose hydrogen breath test. Treatment of CSID consists of limiting sucrose in diet and replacement therapy with sacrosidase. Due to its nonspecific symptoms, CSID may be undiagnosed in many patients for several years. We present a case of a 50-year-old woman with persistent symptoms of bloating in spite of extensive evaluation and treatment. Categories: Endocrinology/Diabetes/Metabolism, Gastroenterology Keywords: sucrase-isomaltase, starch intolerance, disaccharidase assay, ibs, hydrogen breath test Introduction Congenital sucrase isomaltase deficiency (CSID), also known as genetic sucrase deficiency, is a multifaceted intestinal malabsorption disorder with an autosomal recessive mutation in the sucrase-isomaltase (SI) gene on chromosome 3 (3q25-q26). Sucrase-isomaltase is a type II membrane enzyme complex and member of the disaccharidase family required for the breakdown of α-glycosidic linkages in sucrose and maltose. -
Intestinal Sucrase Deficiency Presenting As Sucrose Intolerance in Adult Life
BRnUTE 20 November 1965 MEDICAL JOURNAL 1223 Br Med J: first published as 10.1136/bmj.2.5472.1223 on 20 November 1965. Downloaded from Intestinal Sucrase Deficiency Presenting as Sucrose Intolerance in Adult Life G. NEALE,* M.B., M.R.C.P.; M. CLARKt M.B., M.R.C.P.; B. LEVIN,4 M.D., PH.D., F.C.PATH. Brit. med. J., 1965, 2, 1223-1225 Diarrhoea due to failure of the small intestine to hydrolyse studies of the jejunal mucosa. He was discharged from hospital a certain dietary disaccharides is now a well-recognized congenital week after starting a sucrose-free and restricted starch diet and has disorder of infants and children. It was first suggested for since remained well. lactose (Durand, 1958) and later for sucrose (Weijers et al., 1960) and for isomaltose in association with sucrose (Auricchio Methods et al., 1962). It has been confirmed for lactose and for sucrose intolerance by quantitative estimation of enzyme activities in Initially the patient was on a normal ward diet estimated to the intestinal mucosa (Auricchio et al., 1963b; Dahlqvist et al., contain 50-80 g. of sucrose a day. After 10 days sucrose was 1963 ; Burgess et al., 1964; Levin, 1964). In all cases present- eliminated from the diet, and after a further three days starch ing in childhood there is a history of diarrhoea when food intake was restricted to 150 g. a day. Carbohydrate tolerance yielding the relevant disaccharide is introduced into the diet. was determined after an overnight fast by estimating blood Symptoms decrease with age, so that older children may be glucose levels, using a specific glucose oxidase method, after asymptomatic (Burgess et al., 1964) and are able to tolerate ingestion of 50 g. -
Does Your Patient Have Bile Acid Malabsorption?
NUTRITION ISSUES IN GASTROENTEROLOGY, SERIES #198 NUTRITION ISSUES IN GASTROENTEROLOGY, SERIES #198 Carol Rees Parrish, MS, RDN, Series Editor Does Your Patient Have Bile Acid Malabsorption? John K. DiBaise Bile acid malabsorption is a common but underrecognized cause of chronic watery diarrhea, resulting in an incorrect diagnosis in many patients and interfering and delaying proper treatment. In this review, the synthesis, enterohepatic circulation, and function of bile acids are briefly reviewed followed by a discussion of bile acid malabsorption. Diagnostic and treatment options are also provided. INTRODUCTION n 1967, diarrhea caused by bile acids was We will first describe bile acid synthesis and first recognized and described as cholerhetic enterohepatic circulation, followed by a discussion (‘promoting bile secretion by the liver’) of disorders causing bile acid malabsorption I 1 enteropathy. Despite more than 50 years since (BAM) including their diagnosis and treatment. the initial report, bile acid diarrhea remains an underrecognized and underappreciated cause of Bile Acid Synthesis chronic diarrhea. One report found that only 6% Bile acids are produced in the liver as end products of of British gastroenterologists investigate for bile cholesterol metabolism. Bile acid synthesis occurs acid malabsorption (BAM) as part of the first-line by two pathways: the classical (neutral) pathway testing in patients with chronic diarrhea, while 61% via microsomal cholesterol 7α-hydroxylase consider the diagnosis only in selected patients (CYP7A1), or the alternative (acidic) pathway via or not at all.2 As a consequence, many patients mitochondrial sterol 27-hydroxylase (CYP27A1). are diagnosed with other causes of diarrhea or The classical pathway, which is responsible for are considered to have irritable bowel syndrome 90-95% of bile acid synthesis in humans, begins (IBS) or functional diarrhea by exclusion, thereby with 7α-hydroxylation of cholesterol catalyzed interfering with and delaying proper treatment. -
Congenital Sucrase-Isomaltase Deficiency
Congenital sucrase-isomaltase deficiency Description Congenital sucrase-isomaltase deficiency is a disorder that affects a person's ability to digest certain sugars. People with this condition cannot break down the sugars sucrose and maltose. Sucrose (a sugar found in fruits, and also known as table sugar) and maltose (the sugar found in grains) are called disaccharides because they are made of two simple sugars. Disaccharides are broken down into simple sugars during digestion. Sucrose is broken down into glucose and another simple sugar called fructose, and maltose is broken down into two glucose molecules. People with congenital sucrase- isomaltase deficiency cannot break down the sugars sucrose and maltose, and other compounds made from these sugar molecules (carbohydrates). Congenital sucrase-isomaltase deficiency usually becomes apparent after an infant is weaned and starts to consume fruits, juices, and grains. After ingestion of sucrose or maltose, an affected child will typically experience stomach cramps, bloating, excess gas production, and diarrhea. These digestive problems can lead to failure to gain weight and grow at the expected rate (failure to thrive) and malnutrition. Most affected children are better able to tolerate sucrose and maltose as they get older. Frequency The prevalence of congenital sucrase-isomaltase deficiency is estimated to be 1 in 5, 000 people of European descent. This condition is much more prevalent in the native populations of Greenland, Alaska, and Canada, where as many as 1 in 20 people may be affected. Causes Mutations in the SI gene cause congenital sucrase-isomaltase deficiency. The SI gene provides instructions for producing the enzyme sucrase-isomaltase. -
Disaccharidase Deficiency and Malabsorption of Carbohydrates
SINGAPORE MEDICAL JOURNAL DISACCHARIDASE DEFICIENCY AND MALABSORPTION OF CARBOHYDRATES C K Lee SYNOPSIS A large proportion of man's caloric intake is carbohydrate and starch and sucrose account for over three-quarters of the total consumed. But the rapid change of the food industry from an art to a high specialised industry in recent years have made available a variety of rare food sugars, amongst which are various disacharides. Since the digestion or enzymic breakdown of carbohydrates is a normal initial requirement that precedes their absorption, and metabolism of carbohydrates varies according to their molecular structure, these rare sugars can cause diseases of carbohydrate intolerance and malabsorption. Intolerance and malabsorption can be due to polysaccharide intolerance because of amylase dy- sfunction (caused by the absence of pancreatic amylases) or malfunctioning of absorptive process (caused by damaged or atrophied absorptive mucosa as a result of another primary disease or a variety of other casautive agents or factors, thus resulting in the Department of Chemistry inability of carbohydrate absorption by the alimentary system). A National University of Singapore third type of intolerance is due to primary deficiency or impaired Kent Ridge activity of digestive disaccharidases of the small intestine. The Singapore 0511 physiological significance and the metabolic consequences of such a lactase, sucrase-isomaltase, mal- C K Lee, Ph.D., F.I.F.S.T., C.Chem. F.R.S.C. deficiency or impaired activity of Senior Lecturer tase and trehalase are discussed. 6 VOLUME 25 NO.1 FEBRUARY 19M INTRODUCTION abundance in the free state. It is a constituent of the important plant and animal reserve sugars, starch and Recent years have seen a considerable advance in all glycogen. -
Chrebp-Knockout Mice Show Sucrose Intolerance and Fructose Malabsorption
Preprints (www.preprints.org) | NOT PEER-REVIEWED | Posted: 1 February 2018 doi:10.20944/preprints201802.0005.v1 1 Article 2 ChREBP-Knockout Mice Show Sucrose Intolerance 3 and Fructose Malabsorption 4 Takehiro Kato1, Katsumi Iizuka1,2,*, Ken Takao1, Yukio Horikawa1, Tadahiro Kitamura3, Jun Takeda1 5 1Department of Diabetes and Endocrinology, Graduate School of Medicine, Gifu University, Gifu 501-1194, 6 Japan; [email protected] (T.K.); [email protected] (K.I.); [email protected] (K.T.); 7 [email protected] (Y.H.); [email protected] (JT). 8 2Gifu University Hospital Center for Nutritional Support and Infection Control, Gifu 501-1194, Japan 9 3Metabolic Signal Research Center, Institute for Molecular and Cellular Regulation, Gunma University, 10 Gunma 371-8512, Japan; [email protected] (T.K.) 11 *Correspondence: [email protected]; Tel: +81-58-230-6564; Fax: +81-58-230-6376 12 13 Abstract: We have previously reported that 60% sucrose diet-fed ChREBP knockout mice (KO) 14 showed body weight loss resulting in lethality. We aimed to elucidate whether sucrose and 15 fructose metabolism are impaired in KO. Wild type mice (WT) and KO were fed a diet containing 16 30% sucrose with/without 0.08% miglitol, an α-glucosidase inhibitor, and these effects on 17 phenotypes were tested. Furthermore, we compared metabolic changes of oral and peritoneal 18 fructose injection. Thirty percent sucrose diet feeding did not affect phenotypes in KO. However, 19 miglitol induced lethality in 30% sucrose-fed KO. Thirty percent sucrose plus miglitol diet-fed KO 20 showed increased cecal contents, increased fecal lactate contents, increased growth of 21 lactobacillales and Bifidobacterium and decreased growth of clostridium cluster XIVa. -
Chrebp-Knockout Mice Show Sucrose Intolerance and Fructose Malabsorption
nutrients Article ChREBP-Knockout Mice Show Sucrose Intolerance and Fructose Malabsorption Takehiro Kato 1, Katsumi Iizuka 1,2,* ID , Ken Takao 1, Yukio Horikawa 1, Tadahiro Kitamura 3 and Jun Takeda 1 1 Department of Diabetes and Endocrinology, Graduate School of Medicine, Gifu University, Gifu 501-1194, Japan; [email protected] (T.K.); [email protected] (K.T.); [email protected] (Y.H.); [email protected] (J.T.) 2 Gifu University Hospital Center for Nutritional Support and Infection Control, Gifu 501-1194, Japan 3 Metabolic Signal Research Center, Institute for Molecular and Cellular Regulation, Gunma University, Gunma 371-8512, Japan; [email protected] * Correspondence: [email protected]; Tel.: +81-58-230-6564; Fax: +81-58-230-6376 Received: 31 January 2018; Accepted: 9 March 2018; Published: 10 March 2018 Abstract: We have previously reported that 60% sucrose diet-fed ChREBP knockout mice (KO) showed body weight loss resulting in lethality. We aimed to elucidate whether sucrose and fructose metabolism are impaired in KO. Wild-type mice (WT) and KO were fed a diet containing 30% sucrose with/without 0.08% miglitol, an α-glucosidase inhibitor, and these effects on phenotypes were tested. Furthermore, we compared metabolic changes of oral and peritoneal fructose injection. A thirty percent sucrose diet feeding did not affect phenotypes in KO. However, miglitol induced lethality in 30% sucrose-fed KO. Thirty percent sucrose plus miglitol diet-fed KO showed increased cecal contents, increased fecal lactate contents, increased growth of lactobacillales and Bifidobacterium and decreased growth of clostridium cluster XIVa. -
Genetic Sucrase-Isomaltase Deficiency (GSID), Visit ® a Two-Phase (Dose Response Preceded by a Breath Hydrogen Phase) Double-Blind, Dehydration (1)
Sucraid Patient Sales Aid (DM)_109-ƒx-R3.qxp_Layout 1 12/18/15 11:15 AM Page 1 disease therapy Prescribing Information Patient Package Insert Sucraid® (sacrosidase) Oral Solution: GENERAL INFORMATION FOR PATIENTS Figure 1. Measure dose with measuring scoop. Although Sucraid provides replacement therapy for the deficient sucrase, it does not ® DESCRIPTION provide specific replacement therapy for the deficient isomaltase. Therefore, Sucraid (sacrosidase) Oral Solution Sucraid® (sacrosidase) Oral Solution is an enzyme replacement therapy for the restricting starch in the diet may still be necessary to reduce symptoms as much as 1. treatment of genetically determined sucrase deficiency, which is part of congenital possible. The need for dietary starch restriction for patients using Sucraid should be Please read this leaflet carefully before you take Sucraid® sucrase-isomaltase deficiency (CSID). evaluated in each patient. (sacrosidase) Oral Solution or give Sucraid to a child. Please CHEMISTRY It may sometimes be clinically inappropriate, difficult, or inconvenient to perform a do not throw away this leaflet. You may need to read it again Genetic Sucrase-Isomaltase Sucraid is a pale yellow to colorless, clear solution with a pleasant sweet taste. Each small bowel biopsy or breath hydrogen test to make a definitive diagnosis of CSID. If at a later date. This leaflet does not contain all the information milliliter (mL) of Sucraid contains 8,500 International Units (I.U.) of the enzyme the diagnosis is in doubt, it may be warranted to conduct a short therapeutic trial (e.g., sacrosidase, the active ingredient. The chemical name of this enzyme is one week) with Sucraid to assess response in a patient suspected of sucrase deficiency. -
Lactose Intolerance and Health: Evidence Report/Technology Assessment, No
Evidence Report/Technology Assessment Number 192 Lactose Intolerance and Health Prepared for: Agency for Healthcare Research and Quality U.S. Department of Health and Human Services 540 Gaither Road Rockville, MD 20850 www.ahrq.gov Contract No. HHSA 290-2007-10064-I Prepared by: Minnesota Evidence-based Practice Center, Minneapolis, MN Investigators Timothy J. Wilt, M.D., M.P.H. Aasma Shaukat, M.D., M.P.H. Tatyana Shamliyan, M.D., M.S. Brent C. Taylor, Ph.D., M.P.H. Roderick MacDonald, M.S. James Tacklind, B.S. Indulis Rutks, B.S. Sarah Jane Schwarzenberg, M.D. Robert L. Kane, M.D. Michael Levitt, M.D. AHRQ Publication No. 10-E004 February 2010 This report is based on research conducted by the Minnesota Evidence-based Practice Center (EPC) under contract to the Agency for Healthcare Research and Quality (AHRQ), Rockville, MD (Contract No. HHSA 290-2007-10064-I). The findings and conclusions in this document are those of the authors, who are responsible for its content, and do not necessarily represent the views of AHRQ. No statement in this report should be construed as an official position of AHRQ or of the U.S. Department of Health and Human Services. The information in this report is intended to help clinicians, employers, policymakers, and others make informed decisions about the provision of health care services. This report is intended as a reference and not as a substitute for clinical judgment. This report may be used, in whole or in part, as the basis for the development of clinical practice guidelines and other quality enhancement tools, or as a basis for reimbursement and coverage policies. -
Bile Acid Diarrhoea: Pathophysiology, Diagnosis and Management
SMALL BOWEL AND NUTRITION Frontline Gastroenterol: first published as 10.1136/flgastro-2020-101436 on 22 September 2020. Downloaded from REVIEW Bile acid diarrhoea: pathophysiology, diagnosis and management Alexia Farrugia ,1,2 Ramesh Arasaradnam 2,3 1Surgery, University Hospitals ABSTRACT Coventry and Warwickshire NHS Key points The actual incidence of bile acid diarrhoea Trust, Coventry, UK 2Divison of Biomedical Sciences, (BAD) is unknown, however, there is increasing ► Idiopathic bile acid diarrhoea (BAD) is due University of Warwick, Warwick evidence that it is misdiagnosed in up to 30% Medical School, Coventry, UK to overproduction of bile acids (rather with diarrhoea-pr edominant patients with 3Gastroenterology, University than malabsorption). Hospitals of Coventry and irritable bowel syndrome. Besides this, it may ► The negative feedback loops involved in Warwickshire NHS Trust, also occur following cholecystectomy, infectious bile acid synthesis are interrupted in BAD Coventry, UK diarrhoea and pelvic chemoradiotherapy. but there is lack of data regarding what BAD may result from either hepatic Correspondence to causes the interruption. Professor Ramesh Arasaradnam, overproduction of bile acids or their ► There is increasing evidence of an Gastroenterology, University malabsorption in the terminal ileum. It can result interplay between the gut microbiota, Hospitals of Coventry and in symptoms such as bowel frequency, urgency, farnesoid X receptor and fibroblast growth Warwickshire NHS Trust, factor 19 in BAD. Coventry CV2 2DX, UK; R. nocturnal defecation, excessive flatulence, Tests for BAD such as SeHCAT are not Arasaradnam@ warwick. ac. uk abdominal pain and incontinence of stool. ► available worldwide but alternatives Bile acid synthesis is regulated by negative Received 18 February 2020 include plasma C4 testing and possibly Revised 14 May 2020 feedback loops related to the enterohepatic faecal bile acid measurement. -
Food, Fibre, Bile Acids and the Pelvic Floor: an Integrated Low Risk Low Cost Approach to Managing Irritable Bowel Syndrome
Submit a Manuscript: http://www.wjgnet.com/esps/ World J Gastroenterol 2015 October 28; 21(40): 11379-11386 Help Desk: http://www.wjgnet.com/esps/helpdesk.aspx ISSN 1007-9327 (print) ISSN 2219-2840 (online) DOI: 10.3748/wjg.v21.i40.11379 © 2015 Baishideng Publishing Group Inc. All rights reserved. TOPIC HIGHLIGHT 2015 Advances in irritable bowel syndrome Food, fibre, bile acids and the pelvic floor: An integrated low risk low cost approach to managing irritable bowel syndrome Hamish Philpott, Sanjay Nandurkar, John Lubel, Peter R Gibson Hamish Philpott, Sanjay Nandurkar, John Lubel, Peter R syndrome, and medications may be used often without Gibson, Monash University, Eastern Health, The Alfred Hospital, success. Advances in the understanding of the causes Melbourne 3128, Australia of the symptoms (including pelvic floor weakness and incontinence, bile salt malabsorption and food Author contributions: Philpott H proposed, conceptualised, intolerance) mean that effective, safe and well tolerated researched and wrote the paper; Nandurkar S researched and treatments are now available. suggested modifications; Lubel J edited the paper; Gibson PR provided previous literature and concepts related to dietary treatment. Key words: Bile acids; Pelvic floor; Food intolerance; Irritable bowel syndrome; Diarrhoea Conflict-of-interest statement: The authors have no conflict of interest to report. © The Author(s) 2015. Published by Baishideng Publishing Group Inc. All rights reserved. Open-Access: This article is an open-access article which was selected by an in-house editor and fully peer-reviewed by external Core tip: Decreasing the dietary intake of poorly reviewers. It is distributed in accordance with the Creative absorbed carbohydrates and/or using bile acid binders Commons Attribution Non Commercial (CC BY-NC 4.0) license, can greatly decrease symptoms of diarrhoea. -
Inborn Errors of Bile Acid Metabolism
Reprinted with permission from Thieme Medical Publishers (Seminars Liver Dis. 2007 Aug;27(3):282-294) Homepage at www.thieme.com Inborn Errors of Bile Acid Metabolism James E. Heubi, M.D.,1 Kenneth D.R. Setchell, Ph.D.,1 and Kevin E. Bove, M.D.1 ABSTRACT Bile acids are synthesized by the liver from cholesterol through a complex series of reactions involving at least 14 enzymatic steps. A failure to perform any of these reactions will block bile acid production with failure to produce ‘‘normal bile acids’’ and, instead, result in the accumulation of unusual bile acids and intermediary metabolites. Failure to synthesize bile acids leads to reduced bile flow and decreased intraluminal solubilization of fat and fat-soluble vitamins. In some circumstances, the intermediates created because of blockade in the bile acid biosynthetic pathway may be toxic to hepatocytes. Nine recognized inborn errors of bile acid metabolism have been identified that lead to enzyme deficiencies and impaired bile acid synthesis in infants, children, and adults. Patients may present with neonatal cholestasis, neurologic disease, or fat and fat-soluble vitamin malabsorption. If untreated, progressive liver disease may develop or reduced intestinal bile acid concentrations may lead to serious morbidity or mortality. This review focuses on a description of the disorders of bile acid synthesis that are directly related to single defects in the metabolic pathway, their proposed pathogenesis, treatment, and prognosis. KEYWORDS: Cholestasis, bile acid, cholic acid, liver Bile