Congenital sucrase-isomaltase deficiency (CSID) is a genetic disorder that affects a person’s ability to digest certain sugars. People with this condition cannot break down the sugars sucrose and maltose, and other compounds made from simple sugar molecules (carbohydrates), which can cause diarrhea, abdominal pain, and other symptoms.
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.
Other names for CSID include genetic sucrase-isomaltase deficiency (GSID), congenital sucrose intolerance, congenital sucrose-isomaltose malabsorption, disaccharide intolerance I, SI deficiency, or sucrase-isomaltase deficiency.
Symptoms of CSID
Congenital sucrase-isomaltase deficiency usually becomes apparent after an infant is weaned and starts to consume fruits, juices, and grains and often is diagnosed under the age of 18 months. It may sometimes be diagnosed in older children or adults, however the frequency of CSID in adults has not yet been determined.
After ingestion of sucrose or maltose, an affected person will typically experience watery diarrhea, bloating, excess gas production, abdominal pain (“stomach ache”), and malabsorption of other nutrients. Other symptoms may include nausea, vomiting, or reflux-like symptoms.
In some children, 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.
Symptoms can vary for a variety of reasons including the timing of introduction of sucrose into a person’s diet, and the amount of sugar and starch consumed. Infants who are breast-fed or fed lactose-containing formula will often not have symptoms of CSID until they ingest juices, solid foods, or medications that are sweetened by sucrose.
In some people symptoms may be milder than typically expected. Those with milder symptoms may not be diagnosed until later in childhood or in adulthood. In others with CSID the symptoms may mistakenly be thought due to something else, such as a functional GI disorder like irritable bowel syndrome with diarrhea (IBS-D) or dyspepsia.
How common is CSID
The prevalence of CSID is still unknown and a subject of study and debate. Estimates of prevalence in people of European descent generally range from 1 in 500 to 1 in 2,000, and fewer African Americans are thought to be affected. The condition is much more prevalent in the indigenous populations of Greenland, Alaska, and Canada, where as many as 1 in 10 to 1 in 30 people may be affected.
Nevertheless, more recent studies suggest that CSID may be more common than currently estimated. It is possible that some people remain undiagnosed and that the incidence is higher.
Causes of CSID
Mutations in a gene (the SI gene) cause congenital sucrase-isomaltase deficiency. The SI gene provides instructions for producing the enzyme sucrase-isomaltase. This enzyme is found in the small intestine and is involved in the digestion of sugar and starch. It is responsible for breaking down sucrose and maltose into their simple sugar components. These simple sugars are then absorbed by the small intestine.
In addition to genetic variations, other factors including dietary, gut motility, and nutritional interactions can affect the severity of symptoms.
Diagnosis of CSID
The standard method of confirming a diagnosis of suspected CSID is with an endoscopic biopsy, a tissue sample, taken from the small intestine for laboratory analysis. A sucrose breath hydrogen test has also been used, which is less invasive but more susceptible to error and can provoke GI symptoms due to the amount of sucrose that must be ingested to perform the study.
Developed more recently, a carbon-13 (13C-sucrose) breath test is noninvasive with a high degree of accuracy and avoids provoking symptoms. A genetic test of more common mutations in the CSID gene offers another less invasive simpler alternative.
In the absence of an early diagnosis, people with CSID may go for years without an accurate diagnosis. Usually they will exhibit normal growth, and often report persistent diarrhea. The diagnosis of CSID may be delayed while more common causes or disorders are investigated or diagnosed.
The newer genetic tests and more accurate noninvasive breath tests may lead to more accurate prevalence studies and diagnosis of less typical cases.
It should be recognized that biochemical evidence for CSID by any of these diagnostic methods does not necessarily mean that the individuals will have symptoms of diarrhea and bloating consistent with IBS-D; CSID and IBS-D may co-occur. If you have symptoms of diarrhea, bloating, gaseousness, and abdominal pain or discomfort talk with your doctor to determine the diagnostic studies needed for you.
People of any age need to consume the right nutrients in their diet to ensure proper nutrition. In a person with CSID, dietary restrictions may require life-long adherence to a strict sucrose-free diet. This can vary depending on symptoms, but foods high in sucrose should be avoided.
Foods high in a starch component (amylopectin) including cereals, breads, pastas, and potatoes may also need to be excluded, especially during the first years of life. Starch tolerance is generally improved after the age of 3–4 years, and rice starch and maize starch are easier to digest.
Taking a small amount of baker’s yeast along with sucrose-containing foods has been found to reduce symptoms. However, baker’s yeast has an unpleasant taste.
An alternative to traditional baker’s yeast is sacrosidase (Sucraid), a liquid preparation that is tasteless when mixed with water. Sacrosidase is an enzyme replacement therapy only available by prescription. Sucraid was originally approved by the US Food and Drug Administration (FDA) in 1998 for treating CSID. Studies indicate its effectiveness in reducing symptoms while allowing a less restrictive diet and more normal lifestyle.
If CSID is diagnosed it is reasonable to treat by any of these treatment methods. You will need to consult with your physician or dietitian to determine the proper treatment approach and how long it should be continued.
The Healthcare Team
Dietary management of malabsorption disorders like CSID can be challenging. Talk to your doctor and a registered dietitian about what foods may cause digestion problems. Ask about alternatives. Learn how to read food labels and what to avoid. Be aware of possible sugar content of medicines, if needed.
In children, challenges increase as they begin to exert more independence. As a parent or care provider you will want to work with your child’s doctor to understand the condition and related limitations. This will provide you with the knowledge and ability to manage the child’s symptoms and needs.
At any age, working together with your healthcare providers will help ensure that proper nutrition is maintained while at the same time keeping symptoms under control.
IFFGD has created a congenital sucrase-isomaltase deficiency (CSID) questionnaire with CoRDS. To access this questionnaire, please click here
About Coordination of Rare Diseases at Stanford (CoRDS)
Based at Sanford Research, a nonprofit research institution, CoRDS is a centralized international patient registry for all rare diseases. They coordinate the advancement of research into 7,000 rare diseases.
US National Library of Medicine. Congenital sucrase-isomaltase deficiency. Genetics Home Reference. July 2008; Accessed 10/08.2014.
NASPGHAN and NASPGHAN Foundation for Children’s Digestive Health and Nutrition. Recognition and management of dietary carbohydrate-induced diarrhea in pediatric patients. Monographs. October 2011; . Accessed 10/08/2014.
Puntis JWL, Zamvar V. Congenital sucrose-isomaltase deficiency: diagnostic challenges and response to enzyme replacement therapy. Arch Dis Child 2015;100:869-871
Treem WR. Clinical aspects and treatment of congenital sucrose-isomaltase deficiency. J Pediatr Gastroenterol Nutr. 2012 Nov;55 Suppl 2:S7-13