Congenital Sucrase-isomaltase Deficiency
What's New
Last Posted: Mar 05, 2023
- Increased Prevalence of Rare Sucrase-isomaltase Pathogenic Variants in Irritable Bowel Syndrome Patients.
Garcia-Etxebarria Koldo, et al. Clinical gastroenterology and hepatology : the official clinical practice journal of the American Gastroenterological Association 2018 0 (10) 1673-1676 - Sucrase-isomaltase Gene Variants in Patients With Abnormal Sucrase Activity and Functional Gastrointestinal Disorders.
Deb Chirajyoti, et al. Journal of pediatric gastroenterology and nutrition 2020 0 (1) 29-35 - Severe pathogenic variants of intestinal sucrase-isomaltase interact avidly with the wild type enzyme and negatively impact its function and trafficking.
Husein Diab M, et al. Biochimica et biophysica acta. Molecular basis of disease 2022 0 (11) 166523 - Differential Effects of Sucrase-Isomaltase Mutants on Its Trafficking and Function in Irritable Bowel Syndrome: Similarities to Congenital Sucrase-Isomaltase Deficiency.
Husein Diab M, et al. Nutrients 2020 0 (1) - Hypomorphic SI genetic variants are associated with childhood chronic loose stools.
Chumpitazi Bruno P, et al. PloS one 2020 0 (5) e0231891 - Functional variants in the sucrase-isomaltase gene associate with increased risk of irritable bowel syndrome.
Henström Maria, et al. Gut 2016 11 - Congenital sucrase-isomaltase deficiency
From NCATS Genetic and Rare Diseases Information Center
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Content Summary
Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
- Amyotrophic Lateral Sclerosis
- Brugada Syndrome
- Cerebral Palsy
- Cystic Fibrosis
- Duchenne Muscular Dystrophy
- Eclampsia
- Erythema Multiforme
- Familial Mediterranean Fever
- Fragile X Syndrome
- Gaucher Disease
- Glomerulonephritis
- Graves Disease
- Hemophilia
- Huntington Disease
- Microcephaly
- Myasthenia Gravis
- Phenylketonuria
- Retinitis Pigmentosa
- Severe Combined Immunodeficiency
Disclaimer: Articles listed in the Public Health Knowledge Base are selected by the CDC Office of Public Health Genomics to provide current awareness of the literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the update, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.
- Page last reviewed:Oct 1, 2023
- Page last updated:Nov 30, 2023
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