Congenital+Sucrase-Isomaltase+Deficiency


 * General Summary**

Congenital Sucrase-Isomaltase Deficiency is the body's deficiency of the production of the chemical substances sucrase and isomaltase, enzymes that cleave the sugars sucrose, or table sugar, and maltose, or starch.


 * What is Congenital Sucrase-Isomaltase Deficiency (CSID)**

CSID is an inherited metabolic disorder characterized by a complete or almost complete lack of sucrase activity and a deficiency of isomaltase actvity. In the absence of sucrase and isomaltase activity, ingested sucrose (sugar) and isomaltose (type of starch) are not broken down and cannot be absorbed in the gastrointestinal tract. This results in an accumulation of undigested sugars in the intestine. Five distinct CSID phenotypes have been documented. In each one the lack of sucrase activity is complete, however, the isomaltase activity varies depending on the type. This genetic variability may be one of the explications for the large range in severity of symptoms encountered by patients affected by this disease


 * Mutation**

CSID is caused by a mutation in the 3rd chromosome along with a corresponding mutation in the 7th chromosome. The 3rd chromosome is related to the sucrase deficiency, while the 7th chromosome is related to the maltose deficiency, however the 7th chromosome does not have to be mutated for the diagnosis to occur. There are 5 different levels of CSID. Group C CSID patients do not have a mutation of the 7th chromosome, so they can have normal levels of starch. Groups A, B, D, and E however do have a mutation of the 7th chromosome, and depending on the severity of the mutation, may also be incapable of producing the common enzyme for breaking down milk sugar, lactase.

The people in this group cannot digest the sucrase or starch with out getting any of the symptoms, especially those relating to acid and gas. The person diagnosed can usually take Sucraid to assist with the digestion of natural sugars, such as those found in fruits and vegetables. Without the aid of Sucraid, the person cannot have any sugar and starch, excluding carbohydrates, in their diet. The amount of Sucraid need for a patient depends on the patient and the amount of food the patient eat.
 * __Group A (37%):__**

The people in this group cannot have any sucrose without getting any symptoms, however, they can digest small amounts of starch without getting symptomatic. This group can also be given Sucraid to assist with the digestion of naturally occuring sugars. Children over the age of two (2) usually would require a vitamine supplemation in replacement of the sugar that they cannot digest.
 * __Group B (42%):__**

This group cannot digest any sucrose, however they can digest the normal amounts of starches (after the age of 3). The symptoms usually are the most present and severe for patients in this group. Small children, usually under the age of 2, can loose up to 20% of their body weight, within 4-72 hours, after sucrose is first introduced to the body. This group, just like group A and B can take Sucraid to help aid with the natural sugar digestion.
 * __Group C (11%):__**

The persons diagnosed with this group are usually found in New Zealand or Australia and cannot intake any sugar, lactose or starch without getting the symptoms. This group cannot normally have the same diets as the people in groups A, B or C. This group, however, along with all the others, can be given Sucraid to assist with the digestion of naturally occuring sugars. Because the patient cannot intake any starch, ketosis and weight loss are big problems. Unless they are given lactase, from their physician, the patient cannot intake any lactose either.
 * __Group D (10%):__**

Siblings, parents and grandparents of a patient who are heterozygotes often seem to have some of the symptoms, usually having to do with waste (in childhood). When older, most relatives do not experience any symptoms, however, 17% suffer from some of the symptoms, usually from mild gas to sever bawel movements. Most siblings do not eat much sugar and usually get symptoms when too much starch is consumed in a day. When starch is lowered, and there is an almost complete lack of sugar in the diet, most parents and granparents reported a lack in symptoms.
 * __Group E:__**


 * Who is affected?**

Males and females both can received the genetic disorder at an equal proportion. The disorder can be received even if no family member has a history of ever having had the disorder; two carriers of the gene can pass the genetic disorder down to their children, but both of the genes have to be recessive. Some consider this disorder to be the 'Viking disorder', as it has been found in many places where the Vikings originally settled, and also the average Viking diet for many years did not consist of bread or sugar, so it is possible that their bodies considered the genes irrelevant, but this is just a theory.


 * Symptoms**

The symptoms of CSID only occur when sucrose and or maltose are ingested, so it is possible to live with this genetic disorder and never have any negative symptoms. However the symptoms are:

chronic watery and or acidic diarrhea · colitis like symptoms · failure to thrive · weight loss · vomiting (in more severe cases-may be related to gene configuration) · abdominal distension · irritable bowel syndrome · abdominal pain · bloating · gassiness · colic or irritability · excoriated buttocks · severe diaper rash or appearance of slight burn from stomach acid · foul smelling fermented semi solid bowel movements · dehydration · malnutrition · slowed growth · slight yellowing of the skin (due to rising carotene levels in the blood) · inflammation of pyloric sphincter muscle between stomach and superior duodenum · Possible association with renal calculi (oxalate) · Possible copper malabsorption
 * Severity of symptoms are dependent on the quantity of sugar consumed as well as the colonic bacterial metabolic activity, absorptive capacity of the colon, rate of gastric emptying and small bowel transit time. The symptoms include watery diarrhoea, abdominal cramps, flatulence, bloating and occasional vomiting. Breast fed babies or infants consuming lactose-containing formulas will not manifest symptoms until sucrose is introduced into the diet in the form of fruit juices, solid foods and some medications. In young infants, passage of carbohydrate content through the small intestine and colon is typically more rapid than in adults, thus leading to more severe symptoms. In addition, because of the acceleration of transit (diarrhoea), the absorption of fats and starch is decreased, meaning that children with CSID sometimes have growth retardation. Intolerance to sucrose usually improves with age and symptoms of starch tolerance often disappear within the first few years of life.  Although the symptoms appear to be less severe in adults, CSID is not a disease that a patient grows out of. The enzyme deficiency does not change with age but patients just become more tolerant.  Correct diagnosis of CSID can sometimes be very long as many of the symptoms are common in other diseases and can lead to patients being misdiagnosed with irritable bowel syndrome; cow's milk or soy protein allergy, cystic fibrosis or celiac disease. Many patients with a history of chronic diarrhoea remain undiagnosed. Patients that have been diagnosed in adult life often recount a history of feeding difficulties during infancy and childhood. ||
 * [[image:http://www.orphan-europe.com/sc/img/c.gif width="1" height="10"]] ||


 * Diagnosis**

CSID is a hard genetic disorder to diagnose properly, which is the true source of the problem for the disorder, because it is easily treatable. The disorder is similiar to the diseases: cow's milk protein intolerance, colitis, irritable bowel syndrome, the flu, fructose intolerance, food allergies, and inflammation of the pyloric sphincter. These many similarities cause mistreatment, which causes continuation of the symptoms listed above. An effective way to diagnose CSID is through a bowel biopsy, which can illuminate various levels of different enzymes, including fructase, maltase, and sucrase. These results can determine whether the diagnosis of the patient is correct, or if the patient actually has a different disorder that has been misdiagnosed.


 * Treatment**

It is important to note that as long as no sucrose or maltose is consumed, no treatment is necessary because the sugar does not need to be digested, so no symptoms will occur. However if the patient desires to consume sucrose, there is an artificial enzyme called Sucraid(TM) that can be consumed to allow limited amounts of sucrose consumption. The artifical maltase enzyme has not been produced to this date, however the University of Texas Medical School has been doing research to create the synthetic enzyme.


 * Disease management**

Historically patients were obliged to follow strict sucrose-free diets. However, this diet is very difficult to follow as a large quantity of sugars are frequently found in cereals, soft drinks, baked goods and many other products including medications. Also CSID patients may continue to experience significant diarrhoea, gas and abdominal pain even while following a restricted diet. With diet, they can also experience difficulties such as weight loss and digestive problems.

Today it is possible to treat the deficiency of sucrase activity by replacing the missing enzyme enabling the products of sucrose hydrolysis, glucose and fructose to be absorbed. Patients are able to consume a normal sucrose-containing diet without experiencing gastrointestinal symtoms. This has an enormous impact on the quality of life of CSID patients.

To date 1027 people have been diagnosed worldwide, however there could be up to one million people with at least some form of the disorder, according to Dr. William Treen, Children's Hospital, Brooklyn, New York, who is the creator of sucraid.
 * Who has it?**


 * Credits

http://csidinfo.com/ http://csidinfo.com/symptoms.htm**