Sucrase-Isomaltase Deficiency: Hiding in Plain Sight?

Autor:	Shanti Eswaran, William D. Chey, Adrienne Lenhart
Rok vydání:	2021
Předmět:	medicine.medical_specialty Malabsorption business.industry Gastroenterology medicine.disease Osmotic diarrhea Sucrase-isomaltase deficiency Bloating Internal medicine medicine medicine.symptom Flatulence business Irritable bowel syndrome Pediatric population
Zdroj:	Current Treatment Options in Gastroenterology. 19:500-508
ISSN:	1534-309X 1092-8472
Popis:	Our review focuses on the various presentations, diagnosis, and treatment of sucrose–isomaltase deficiency (SID), previously thought to be limited to the pediatric population with severe malabsorptive symptoms. Although sucrase–isomaltase deficiency is presumed to be a rare disorder, it is likely under recognized and more prevalent than is currently known. Congenital sucrase–isomaltase deficiency usually manifests early in life, but the phenotype may vary depending on the mutation(s) present. SID is characterized by dysfunction of the brush border enzyme, sucrase–isomaltase, with a subsequent inability to successfully digest sucrose and starch. This disorder can be further characterized as either a genetic (genetic/congenital sucrase–isomaltase deficiency) or a secondary condition. Sucrase–isomaltase deficiency can result in various clinical symptoms, ranging from mild bloating/flatulence to severe osmotic diarrhea with malabsorption. SID has been associated with irritable bowel syndrome, and further research is needed to further characterize this relationship.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_________::873c55c9c68cd503919d785281141749 https://doi.org/10.1007/s11938-021-00357-8 Zobrazit plný text záznamu Full text from SpringerLink