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Congenital sucrase isomaltase deficiency

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https://www.readbyqxmd.com/read/28267073/improved-starch-digestion-of-sucrase-deficient-shrews-treated-with-oral-glucoamylase-enzyme-supplements
#1
Buford L Nichols, Stephen E Avery, Roberto Quezada-Calvillo, Shadi B Kilani, Amy Hui-Mei Lin, Douglas G Burrin, Benjamin E Hodges, Shaji K Chacko, Antone R Opekun, Marwa El Hindawy, Bruce R Hamaker, Sen-Ichi Oda
BACKGROUND AND OBJECTIVE: Although named because of its sucrose hydrolytic activity, this mucosal enzyme plays a leading role in starch digestion because of its maltase and glucoamylase activities. Sucrase-deficient mutant shrews, Suncus murinus, were used as a model to investigate starch digestion in patients with congenital sucrase-isomaltase deficiency.Starch digestion is much more complex than sucrose digestion. Six enzyme activities, 2 α-amylases (Amy), and 4 mucosal α-glucosidases (maltases), including maltase-glucoamylase (Mgam) and sucrase-isomaltase (Si) subunit activities, are needed to digest starch to absorbable free glucose...
August 2017: Journal of Pediatric Gastroenterology and Nutrition
https://www.readbyqxmd.com/read/28103775/interaction-of-antipsychotic-drugs-with-sucrase-kinetics-and-structural-study
#2
Narges Jafari, Helia Dehganpour, Nava Ghavanini, Hamidreza Mollasalehi, Dariush Minai-Tehrani
BACKGROUND: In patients with the Congenital Sucrase-Isomaltase Deficiency (CSID), who lack intestinal sucrase-isomaltase enzyme, a suspension of yeast sucrase is applied as a drug to compensate the enzyme deficiency. While antipsychotic drugs are used for the treatment of schizophrenia, administering multiple drugs at the same time may counteract each other. METHODS: In this study, the interaction between trifluoperazine and haloperidol as antipsychotic drugs on oral drug yeast sucrase was investigated...
2017: Current Clinical Pharmacology
https://www.readbyqxmd.com/read/28062276/molecular-pathogenicity-of-novel-sucrase-isomaltase-mutations-found-in-congenital-sucrase-isomaltase-deficiency-patients
#3
Birthe Gericke, Mahdi Amiri, C Ronald Scott, Hassan Y Naim
BACKGROUND & AIMS: Congenital sucrase-isomaltase deficiency (CSID) is a genetic disorder associated with mutations in the sucrase-isomaltase (SI) gene. The diagnosis of congenital diarrheal disorders like CSID is difficult due to unspecific symptoms and usually requires invasive biopsy sampling of the intestine. Sequencing of the SI gene and molecular analysis of the resulting potentially pathogenic SI protein variants may facilitate a diagnosis in the future. This study aimed to categorize SI mutations based on their functional consequences...
January 3, 2017: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/27872184/functional-variants-in-the-sucrase-isomaltase-gene-associate-with-increased-risk-of-irritable-bowel-syndrome
#4
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...
November 21, 2016: Gut
https://www.readbyqxmd.com/read/27749612/congenital-sucrase-isomaltase-deficiency-a-novel-compound-heterozygous-mutation-causing-aberrant-protein-localization
#5
Yael Haberman, Ayelet Di Segni, Nurit Loberman-Nachum, Ortal Barel, Vered Kunik, Eran Eyal, Nitzan Kol, Goni Hout-Siloni, Brigitte Kochavi, Camila Avivi, Michael Schvimer, Gideon Rechavi, Yair Anikster, Iris Barshack, Batia Weiss
OBJECTIVES: Congenital diarrheal disorders is a group of inherited enteropathies presenting in early life and requiring parenteral nutrition. In most cases, genetics may be the key for precise diagnosis. We present an infant girl with chronic congenital diarrhea that resolved after introduction of fructose-based formula but had no identified mutation in the SLC5A1 gene. Using whole exome sequencing (WES) we identified other mutations that better dictated dietary adjustments. METHODS: WES of the patient and her parents was performed...
May 2017: Journal of Pediatric Gastroenterology and Nutrition
https://www.readbyqxmd.com/read/26812950/the-multiple-roles-of-sucrase-isomaltase-in-the-intestinal-physiology
#6
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
#7
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/25452324/congenital-sucrase-isomaltase-deficiency-identification-of-a-common-inuit-founder-mutation
#8
Julien L Marcadier, Margaret Boland, C Ronald Scott, Kheirie Issa, Zaining Wu, Adam D McIntyre, Robert A Hegele, Michael T Geraghty, Matthew A Lines
BACKGROUND: Congenital sucrase-isomaltase deficiency is a rare hereditary cause of chronic diarrhea in children. People with this condition lack the intestinal brush-border enzyme required for digestion of di- and oligosaccharides, including sucrose and isomaltose, leading to malabsorption. Although the condition is known to be highly prevalent (about 5%-10%) in several Inuit populations, the genetic basis for this has not been described. We sought to identify a common mutation for congenital sucrase-isomaltase deficiency in the Inuit population...
February 3, 2015: CMAJ: Canadian Medical Association Journal, Journal de L'Association Medicale Canadienne
https://www.readbyqxmd.com/read/24433566/congenital-sucrase-isomaltase-deficiency-an-under-diagnosed-disease-in-chinese-children
#9
Lanlan Geng, Ding-You Li, Wenji Ou, Qunying Yang, Tiefu Fang, Peiyu Chen, Min Yang, Sitang Gong
BACKGROUND: Congenital sucrase-isomaltase deficiency (CSID) is a rare genetic disorder. The prevalence of CSID in Chinese population is unknown and no single case has been reported. METHODS: Sucrose tolerance tests were performed in three children suspected of CSID. Glucose tolerance tests were performed to exclude glucose malabsorption. Blood glucose was measured at fasting and at 30 min, 60 min, 120 min, and 180 min of the study. Gastrointestinal symptoms were recorded up to 4 hours after the study...
2014: BMC Pediatrics
https://www.readbyqxmd.com/read/23103658/clinical-aspects-and-treatment-of-congenital-sucrase-isomaltase-deficiency
#10
William R Treem
No abstract text is available yet for this article.
November 2012: Journal of Pediatric Gastroenterology and Nutrition
https://www.readbyqxmd.com/read/23103652/congenital-sucrase-isomaltase-deficiency-diet-assessment-and-education-guidelines
#11
Ann R McMeans
No abstract text is available yet for this article.
November 2012: Journal of Pediatric Gastroenterology and Nutrition
https://www.readbyqxmd.com/read/23103651/congenital-sucrase-isomaltase-deficiency-summary-of-an-evaluation-in-one-family
#12
Bruno P Chumpitazi, Claudia C Robayo-Torres, Antone R Opekun, Buford L Nichols, Hassan Y Naim
No abstract text is available yet for this article.
November 2012: Journal of Pediatric Gastroenterology and Nutrition
https://www.readbyqxmd.com/read/23103646/starch-digestion-and-patients-with-congenital-sucrase-isomaltase-deficiency
#13
Bruce R Hamaker, Byung-Hoo Lee, Roberto Quezada-Calvillo
No abstract text is available yet for this article.
November 2012: Journal of Pediatric Gastroenterology and Nutrition
https://www.readbyqxmd.com/read/23103644/50-years-of-progress-since-congenital-sucrase-isomaltase-deficiency-recognition
#14
Buford L Nichols, Salvatore Auricchio
No abstract text is available yet for this article.
November 2012: Journal of Pediatric Gastroenterology and Nutrition
https://www.readbyqxmd.com/read/23103643/congenital-sucrase-isomaltase-deficiency-heterogeneity-of-inheritance-trafficking-and-function-of-an-intestinal-enzyme-complex
#15
Hassan Y Naim, Martin Heine, Klaus-Peter Zimmer
No abstract text is available yet for this article.
November 2012: Journal of Pediatric Gastroenterology and Nutrition
https://www.readbyqxmd.com/read/23103641/research-progress-reported-at-the-50th-anniversary-of-the-discovery-of-congenital-sucrase-isomaltase-deficiency-workshop
#16
Mark Gilger, Bruce Hamaker, Buford L Nichols, Salvatore Auricchio, William R Treem, Hassan Y Naim, Martin Heine, Klaus-Peter Zimmer, Kyra Jones, Razieh Eskandari, B Mario Pinto, David R Rose, Byung-Hoo Lee, Roberto Quezada-Calvillo, Bridget Adams, Christine M Roach, Chang-Xing Ma, Susan S Baker, Mary H Slawson, Claudia C Robayo-Torres, Bruno P Chumpitazi, Christine E Lecea, Antone R Opekun, Stefanie Uhrich, Zaining Wu, Jie-Yu Huang, C Ronald Scott, Bruno P Chumpitazi, Ann R McMeans, Dietmar Scholz, Robert J Shulman, Zihua Ao, Erwin E Sterchi, Amy Hui-Mei Lin
No abstract text is available yet for this article.
November 2012: Journal of Pediatric Gastroenterology and Nutrition
https://www.readbyqxmd.com/read/23023692/interaction-of-methocarbamol-and-yeast-sucrase-induces-enzyme-inhibition
#17
Dariush Minai-Tehrani, Allaleh Masoudnia, Sana Alavi, Raheleh Osmani, Leila Lotfi, Mitra Asghari, Mahdi Pirsalehi, Zahra Sobhani-Damavandifar
BACKGROUND: Methocarbamol is a skeletal muscle relaxant and is widely used to relieve pain in muscles. Many drugs may have interactions with each other when used at the same time. Yeast sucrase is taken as a drug by patients with congenital sucrase-isomaltase deficiency (CSID). METHODS: In this study, the interaction between methocarbamol and yeast sucrase was investigated. RESULTS: Our results showed that methocarbamol can inhibit sucrase activity and reduce the maximum reaction velocity (Vmax) of the enzyme by a non-competitive pattern...
2012: Drug Metabolism and Drug Interactions
https://www.readbyqxmd.com/read/21872088/selected-disorders-of-malabsorption
#18
REVIEW
Zafreen Siddiqui, Amimi S Osayande
Malabsorption syndrome encompasses numerous clinical entities that result in chronic diarrhea, abdominal distention, and failure to thrive. These disorders may be congenital or acquired and include cystic fibrosis and Shwachman-Diamond syndrome; the rare congenital lactase deficiency; glucose-galactose malabsorption; sucrase-isomaltase deficiency; adult-type hypolactasia leading to acquired lactose intolerance. The pathology may be due to impairment in absorption or digestion of nutrients resulting in Nutritional deficiency, gastrointestinal symptoms, and extra gastrointestinal symptoms...
September 2011: Primary Care
https://www.readbyqxmd.com/read/21851210/ranitidine-induces-inhibition-and-structural-changes-in-sucrase
#19
Dariush Minai-Tehrani, Mina Ghaffari, Zahra Sobhani-Damavandifar, Saeed Minoui, Sana Alavi, Rahele Osmani, Shiva Ahmadi
Ranitidine is an antagonist of histamine-2 (H(2)) receptor. It is employed to treat peptic ulcer and other conditions in which gastric acidity must be reduced. Sucrase is a hydrolytic enzyme that catalyzes the breakdown of sucrose to its monomer content. A liquid of yeast sucrase was developed for treatment of congenital sucrase-isomaltase deficiency (CSID) in human. In this study, the effect of ranitidine on yeast sucrase activity was investigated. Our results showed that ranitidine binds to sucrase and inhibits the enzyme in a noncompetitive manner...
August 2012: Journal of Enzyme Inhibition and Medicinal Chemistry
https://www.readbyqxmd.com/read/19680155/congenital-and-putatively-acquired-forms-of-sucrase-isomaltase-deficiency-in-infancy-effects-of-sacrosidase-therapy
#20
Thomas Lücke, Markus Keiser, Sabine Illsinger, Michael J Lentze, Hassan Y Naim, Anibh M Das
No abstract text is available yet for this article.
October 2009: Journal of Pediatric Gastroenterology and Nutrition
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