Sucrase-Isomaltase Deficiency, Congenital (CSID)

External Ids:

Disease Ontology 12 DOID:0111633 OMIM 56 222900 KEGG 36 H00115 MeSH 43 C538139 NCIt 49 C128190 SNOMED-CT 67 360854006 ICD10 32 E74.31

MESH via Orphanet 44 C538139 ICD10 via Orphanet 33 E74.3 UMLS via Orphanet 72 C1283620 Orphanet 58 ORPHA35122 MedGen 41 C1283620 SNOMED-CT via HPO 68 249497008 258211005 267060006 300359004 41931001 422400008 60728008 62315008 9991008 more UMLS 71 C0239189 C1283620

Genetics Home Reference : ²⁵ 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.

MalaCards based summary : Sucrase-Isomaltase Deficiency, Congenital, also known as congenital sucrase-isomaltase deficiency, is related to diarrhea and lactose intolerance. An important gene associated with Sucrase-Isomaltase Deficiency, Congenital is SI (Sucrase-Isomaltase), and among its related pathways/superpathways are Starch and sucrose metabolism and Glycosaminoglycan metabolism. The drugs Salmon calcitonin and Lactulose have been mentioned in the context of this disorder. Affiliated tissues include small intestine, testes and kidney, and related phenotypes are diarrhea and vomiting

Disease Ontology : ¹² A carbohydrate metabolic disorder characterized by malabsorption of oligosaccharides and disaccharides that has material basis in homozygous or compound heterozygous mutation in SI on chromosome 3q26.1.

NIH Rare Diseases : ⁵² Congenital sucrase-isomaltase deficiency (CSID) is a genetic condition that affects a person's ability to digest certain sugars. People with this condition cannot break down the sugars sucrose (a sugar found in fruits, and also known as table sugar) and maltose (the sugar found in grains). CSID usually becomes apparent after an infant begins 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 thrive and malnutrition . Most affected children are better able to tolerate sucrose and maltose as they get older. CSID is inherited in an autosomal recessive pattern and is caused by mutations in the SI gene .

KEGG : ³⁶ Congenital sucrase-isomaltase deficiency an autosomal recessive disorder caused by enzyme deficiency for metabolizing sucrose and starch.

UniProtKB/Swiss-Prot : ⁷³ Congenital sucrase-isomaltase deficiency: Autosomal recessive intestinal disorder that is clinically characterized by fermentative diarrhea, abdominal pain, and cramps upon ingestion of sugar. The symptoms are the consequence of absent or drastically reduced enzymatic activities of sucrase and isomaltase. The prevalence of CSID is 0.02 % in individuals of European descent and appears to be much higher in Greenland, Alaskan, and Canadian native people. CSID arises due to post-translational perturbations in the intracellular transport, polarized sorting, aberrant processing, and defective function of SI.

Wikipedia : ⁷⁴ Sucrose intolerance or genetic sucrase-isomaltase deficiency (GSID) is the condition in which... more...

More information from OMIM: 222900

Clinical features from OMIM:

222900

Search NIH Clinical Center for Sucrase-Isomaltase Deficiency, Congenital

Search GEO for disease gene expression data for Sucrase-Isomaltase Deficiency, Congenital.