Introduction to congenital sucrase-isomaltase deficiency

Introduction Congenital Sucrase – Isomaltase Deficiency (CSID) is a genetic disorder that affects the ability of humans to digest certain sugars. People with this disease cannot break down sucrose (sugars found in fruits, also known as sugar) and maltose (sugars found in cereals). After the baby begins to drink fruit, juice and grain, the CSID usually becomes apparent. After ingesting sucrose or maltose, affected children usually have stomach cramps, bloating, excessive gas production and diarrhea. These digestive problems can lead to failure and malnutrition. As we age, most affected children are better able to tolerate sucrose and maltose. The cause of CSID is inherited by the autosomal recessive inheritance model, and the infants whose symptoms are affected by mutations in the SI gene will develop symptoms shortly after the first ingestion of sucrose, which occurs in modified milk powder, fruit or starch. . Symptoms may include abnormal watery diarrhea leading to abnormal fluid levels (dehydration), abdominal swelling (bloating) and/or abdominal discomfort. In addition, some affected babies may suffer from malnutrition due to nutritional deficiencies, which are caused by malnutrition, major nutrient absorption, and/or inability to thrive. In some cases, an individual may exhibit irritability; colic; wear and/or irritation (wear) and/or vomiting of the buttocks due to prolonged diarrhea. The symptoms of this disease vary among affected individuals, but are usually more severe in infants and young children than in adults. Symptoms in infants and young children are usually more pronounced than in affected adults, as young people's diets usually include higher carbohydrate intake. In addition, infants and young children need less time to digest in the intestines. This table lists the symptoms that may be present in people with this condition. For most diseases, the symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO). HPO collects information about the symptoms described in medical resources. HPO will be updated regularly. Use HPO ID to access more in-depth information about the symptoms. Diagnostic CSID can be specifically tested by taking a small amount of tissue (biopsy) from the small intestine, the disaccharidase assay. Other tests may include a sucrose hydrogen breath test in which an abnormally high level of hydrogen will be detected in the breath of the affected individual after sucrose intake. In some cases, genetic testing may be indicated. Treatment of CSID is usually treated by modifying the person's diet to reduce the amount of sucrose. Since many foods contain sucrose and other complex sugars, it may be difficult to completely remove the sucrase from the diet. Sacrosidase is an oral drug that contains enzymes that do not work properly in this situation. By taking this medicine, those with CSID can eat sucrose-containing foods because the enzyme breaks down sucrose. This medicine must be taken with every meal or snack. FDA-approved treatments The following drugs have been approved by the US Food and Drug Administration (FDA) as orphan products for the treatment of this condition. Learn more about orphan products. Sacrosidase (trade name: Sucraid®) – FDA-approved indications by QOL Medical, LLC: Oral replacement therapy for genetically determined invertase deficiency, which is part of the congenital diastolic enzyme – isomaltase deficiency.