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Congenital sucrase isomaltase deficiency

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
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 chronic diarrhea (CCD) 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 CCD 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...
October 4, 2016: Journal of Pediatric Gastroenterology and Nutrition
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
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
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
William R Treem
No abstract text is available yet for this article.
November 2012: Journal of Pediatric Gastroenterology and Nutrition
Ann R McMeans
No abstract text is available yet for this article.
November 2012: Journal of Pediatric Gastroenterology and Nutrition
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
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
Buford L Nichols, Salvatore Auricchio
No abstract text is available yet for this article.
November 2012: Journal of Pediatric Gastroenterology and Nutrition
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
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
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
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
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
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
Claudia C Robayo-Torres, Antone R Opekun, Roberto Quezada-Calvillo, Xavier Villa, E O Smith, Marilyn Navarrete, Susan S Baker, Buford L Nichols
BACKGROUND: Congenital sucrase-isomaltase deficiency (CSID) is characterized by absence or deficiency of the mucosal sucrase-isomaltase enzyme. Specific diagnosis requires upper gastrointestinal biopsy with evidence of low to absent sucrase enzyme activity and normal histology. The hydrogen breath test (BT) is useful, but is not specific for confirmation of CSID. We investigated a more specific 13C-sucrose labeled BT. OBJECTIVES: Determine whether CSID can be detected with the 13C-sucrose BT without duodenal biopsy sucrase assay, and if the 13C-sucrose BT can document restoration of sucrose digestion by CSID patients after oral supplementation with sacrosidase (Sucraid)...
April 2009: Journal of Pediatric Gastroenterology and Nutrition
Marwan Alfalah, Markus Keiser, Tosso Leeb, Klaus-Peter Zimmer, Hassan Y Naim
BACKGROUND & AIMS: Congenital sucrase-isomaltase (SI) deficiency is an autosomal-recessive intestinal disorder characterized by a drastic reduction or absence of sucrase and isomaltase activities. Previous studies have indicated that single mutations underlie individual phenotypes of the disease. We investigated whether compound heterozygous mutations, observed in some patients, have a role in disease pathogenesis. METHODS: We introduced mutations into the SI complementary DNA that resulted in the amino acid substitutions V577G and G1073D (heterozygous mutations found in one group of patients) or C1229Y and F1745C (heterozygous mutations found in another group)...
March 2009: Gastroenterology
Markus Keiser, Marwan Alfalah, Marcus J Pröpsting, Deborah Castelletti, Hassan Y Naim
Naturally occurring mutants of membrane and secretory proteins are often associated with the pathogenesis of human diseases. Here, we describe the molecular basis of a novel phenotype of congenital sucrase-isomaltase deficiency (CSID), a disaccharide malabsorption disorder of the human intestine in which several structural features and functional capacities of the brush-border enzyme complex sucrase-isomaltase (SI) are affected. The cDNA encoding SI from a patient with CSID reveals a mutation in the isomaltase subunit of SI that results in the substitution of a cysteine by an arginine at amino acid residue 635 (C635R)...
May 19, 2006: Journal of Biological Chemistry
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