Sucrose intolerance (SI) is roughly defined as a disorder of the human gastrointestinal (GI) tract characterized by the reduced capacity of the small bowel membrane to process carbohydrates such as starch and sucrose [1]. This phenomenon is seen in patients who suffer from an autosomal recessive disorder called congenital sucrase-isomaltase deficiency (CSID), in which genetic mutations of sucrase and isomaltase, vital enzymes and glycoprotein constituents of the intestinal cell membrane, lead to significantly lower capacities for processing sucrose [2] [3] [4] [5]. Although rare, this condition has been reported throughout the world, but particularly higher prevalence rates are observed in Inuits and native populations of Alaska, Greenland, and Canada [3] [5]. The clinical presentation stems from an increased amount of disaccharides in the lumen of the intestine that create an osmotic shift, leading to watery diarrhea that is often accompanied by abdominal cramping as the main symptom [1] [2] [6]. SI becomes evident when infants are switched from breastfeeding and milk formulas to regular food containing starches and sucrose (eg. fruits) [3] [5]. Diarrhea is often described as "fermentative" due to the abundance of carbohydrates, whereas additional findings include failure to thrive, bloating, and abdominal distension [1] [3] [5]. Severe malnutrition has been reported in rare cases in whom an early presentation was observed [6].

• Sucrose Intolerance

  1 Congenital sucrose intolerance Sucrose-Isomaltose Malabsorption, Congenital edit English sucrose intolerance Congenital sucrase-isomaltase deficiency (CSID) is a carbohydrate intolerance disorder characterised by malabsorption of oligosaccharides and [wikidata.org]

  Sucrose intolerance can also be caused by irritable bowel syndrome, aging, or small intestine disease (secondary sucrose intolerance). There are specific tests used to help determine if a person has sucrose intolerance. [en.wikipedia.org]

  Sucrose intolerance can also be caused by irritable bowel syndrome, aging, or small intestine disease. There are specific tests used to determine sucrose intolerance. [deemagclinic.wordpress.com]

  Sucrose intolerance is sometimes mistaken for other sugar intolerances, such as fructose or lactose, and gastrointestinal disorders, including irritable bowel syndrome. Here are eight facts that you should know about sucrose and sucrose intolerance. [myguthealthtoday.com]

• Diarrhea

  They are thought to have chronic, nonspecific diarrhea (toddler’s diarrhea). Older children may be misdiagnosed with Irritable Bowel Syndrome (IBS) because they have symptoms such as cramps, abdominal pain, gas, and intermittent diarrhea. [sucroseintolerance.com]

  Other ailments that it can be confused with are food allergies, chronic diarrhea and lactose intolerance. [medium.com]

  Diarrhea is often described as "fermentative" due to the abundance of carbohydrates, whereas additional findings include failure to thrive, bloating, and abdominal distension. [symptoma.com]

  […] later during adolescence or young adulthood carrying a diagnosis of diarrhea-predominant IBS. [journals.lww.com]

• Abdominal Pain

  Abdominal pain and abnormal lactose tolerance tests were noted in 11 of 38, while none of the 28 had an abnormal sucrose tolerance test; however, 1 had abdominal pain. [ncbi.nlm.nih.gov]

  Of the 38, 11 had abnormal lactose tolerance tests and abdominal pain. Of the 28 tested for sucrose tolerance, none had a positive test, although one had abdominal pain. [agris.fao.org]

  This happens because the symptoms can mirror IBS, such as cramping, abdominal pain, gas and periodic diarrhea. [medium.com]

  Chronic abdominal pain, watery diarrhea, and/or failure to thrive (poor physical growth) are common GSID symptoms. [sucroseintolerance.com]

• Abdominal Cramps

  Sucrose intolerance is a term describing the inability of individuals to process sucrose and the development of watery diarrhea and abdominal cramping after ingestion of sucrose-containing carbohydrates, eg. fruits. [symptoma.com]

  Abdominal cramps and bloating Diarrhea and constipation Vomiting Hypoglycemia and headaches Poor weight gain and growth Upper respiratory tract and viral diseases Anxiety and heart palpitations Excess gas production Sucrose intolerance can be caused by [en.wikipedia.org]

  Some common symptoms of sucrose intolerance Inability to digest sucrose Diarrhea, constipation, flatulence and vomitting Hypoglycaemia and headaches Nervousness, anxiety and heart palpitations Poor weight gain and malnutrition Abdominal cramps, bloating [askanaturopath.com]

  This results in diarrhoea, abdominal cramps, vomiting and discomfort. Sucrose-isomaltose malabsorption usually appears from the sixth month of age, when sugar in complementary food is given to the infant for the first time. [produktqualitaet.com]

  Symptoms of Sucrose Intolerance [edit] Abdominal cramps and bloating Diarrhea and constipation Vomiting Hypoglycemia and headaches Poor weight gain and growth Upper respiratory tract and viral infections Anxiety and heart palpitations Excess gas production [deemagclinic.wordpress.com]

• Chronic Diarrhea

  Other ailments that it can be confused with are food allergies, chronic diarrhea and lactose intolerance. [medium.com]

  In children with chronic diarrhea of unknown origin 4-10% have SGID. 1 in 1000 adults with chronic diarrhea are likely to have some degree of SGID. [foodintolerances.org]

  Resolved issues: MSPI, CSID (acquired), Stage 2 kidney reflux, Chronic diarrhea. Audrey Meadow 06/20/08. born 34/35 weeks. Still b/f and eats everything! [reflux.org]

• Abdominal Bloating

  This results in abdominal bloating, pain, and flatulence (wind). In addition, organic acids are produced by microbial fermentation in the bowel, which tend to increase motility in the digestive tract. [foodsmatter.com]

  Intestinal symptoms in children are not unusual and often include abdominal bloating, vomiting, diarrhea, pain, and food aversion. [journals.lww.com]

  Individuals with celiac disease can have decreased activity of the enzyme sucrase and thus a decreased ability to digest sucrose [13], which may contribute to abdominal bloating and diarrhea. [nutrientsreview.com]

• Irritability

  Abdominal swelling (distention), gassiness, colic, irritability, excoriated buttocks (abrasions and irritations), vomiting, and diaper rash are signs of pediatric GSID. [sucroseintolerance.com]

  Chronic abdominal pain Watery diarrhea Issues with physical growth Swelling in the abdomen Gassiness Colic Irritability Irritation on buttocks Vomiting Diaper Rash Though rare, hospitalization is required for pediatric GSID when children show the following [medium.com]

  Symptoms of sucrose intolerance (GSID) in infants and children are chronic abdominal pain, watery diarrhea, failure to thrive (poor physical growth), abdominal swelling, gassiness, colic, irritability, vomiting and diaper rash. [myguthealthtoday.com]

  Sucrose intolerance can also be caused by irritable bowel syndrome, aging, or small intestine disease (secondary sucrose intolerance). There are specific tests used to help determine if a person has sucrose intolerance. [en.wikipedia.org]

• Seizure

  […] diet How well the enzyme works in the body These complications may occur: Avoidance of fructose-containing foods due to their effects Bleeding Gout Illness from eating foods containing fructose or sucrose Liver failure Low blood sugar ( hypoglycemia ) Seizures [medlineplus.gov]

  Complications Hypoglycemia Illness due to eating fructose- or sucrose-containing foods Strong avoidance of fructose-containing foods due to noxious effects Seizures Bleeding Gout Liver failure Death Calling your health care provider Call your health care [foodreactions.org]

  Accompanying hypoglycemia may cause tremors or seizures, as well as diaphoresis. [reference.medscape.com]

• Convulsions

  /sucrose-containing foods Doing well after eating foods without fructose/sucrose The early symptoms of fructose intolerance may resemble those of galactosemia: irritability, jaundice, vomiting, convulsions and an enlarged liver and spleen. [foodreactions.org]

  Symptoms may include: Convulsions Excessive sleepiness Irritability Yellow skin or whites of the eyes (jaundice) Poor feeding as a baby Problems after eating fruits and other foods that contain fructose or sucrose Vomiting Removing fructose and sucrose [medlineplus.gov]

• Tremor

  Accompanying hypoglycemia may cause tremors or seizures, as well as diaphoresis. [reference.medscape.com]

A comprehensive clinical approach is necessary in order to make the diagnosis of SI. Firstly, physicians must evaluate the exact onset of symptoms, their progression, but also severity, and detect if their appearance coincided with the introduction of solid foods and carbohydrates, which may be one of the first and most important clues. Because of the autosomal recessive nature of the disease, a detailed family history is of critical importance, as familial cases are well-documented [7]. The physical examination particularly focused on abdominal palpation, should be the next step in the workup. To solidify clinical findings obtained during the evaluation, various tests (both invasive and non-invasive) can be employed. The sucrose tolerance test (comprised of intravenous administration of sucrose and subsequent measurements of serum glucose levels, as well as detection of symptoms within several hours) and the 13C-sucrose breath hydrogen test (evaluation of carbohydrate levels in the patient's breath) are two non-invasive methods that have been recommended by several studies in the diagnostic assessment of sucrose intolerance [3] [4]. The gold standard, however, is a biopsy of the wall of the small intestine through upper endoscopy, and subsequent confirmation of low sucrase and isomaltase activity can confirm this disease [3] [4] [5].

Eventually, many patients are labeled as having “irritable bowel syndrome” (IBS) and are prescribed generic treatments that include probiotics, antispasmodics or peppermint oil. [gastrohealth.com]

Treatment There is no cure for sucrose intolerance, but it can be managed. The most effective treatment for a food intolerance is to identify the foods you are intolerant of and avoid them. [livestrong.com]

[…] allergies and intolerances - Discussion of where to look for hidden food allergens - Case studies of various allergic reactions - Questions to ask your doctor - Guide to traveling with food allergies - Quiz for when to get tested - A look at new and future treatments [books.google.de]

Treatment: Complete elimination of fructose and sucrose from the diet is the most effective treatment for patients. Prognosis depends on how soon the diagnosis is made. [eatingforenergy.com]

The prognosis depends on how soon the diagnosis is made and how soon fructose and sucrose can be eliminated from the baby's diet. [foodreactions.org]

The prognosis is good in most cases. A few children with a severe form of the disease will develop severe liver disease. Even removing fructose and sucrose from the diet may not prevent severe liver disease in these children. [medlineplus.gov]

Prognosis depends on how soon the diagnosis is made. Disaccharide Intolerance I: Rare inherited metabolic disorder characterized by sucrase and isomaltase enzyme deficiency, which are fundamental in the breakdown of certain sugars (ie. [eatingforenergy.com]

They are organised into groups, and further divided into clinical, etiological or histopathological sub-types. [orpha.net]

New saliva DNA collection method compared to buccal cell collection techniques for epidemiological studies. Am J Hum Biol 2007; 19:319–326. 9. Slatko BE, Kieleczawa J, Ju J, et al. “First generation” automated DNA sequencing technology. [journals.lww.com]

Molecular and Systemic Pathophysiology Sucrase-isomaltase is an intestinal disaccharidase expressed on the... References 1. Naim HY, Roth J, Sterchi EE, Lentze M, Milla P, Schmitz J, Hauri HP (1988) Sucrase-isomaltase deficiency in humans. [link.springer.com]

Lewis elucidates the physiology and pathophysiology of the intestinal and immune cells with clarity and humor that makes reading this book a pleasure. [books.google.de]

Pathophysiologic classification of lactic acidosis. [reference.medscape.com]

A chapter is dedicated to traumatic brain injury and its secondary prevention. [books.google.de]

Prevention Genetic counselling may be of value to prospective parents with a family history of fructose intolerance. Most of the damaging effects of the disease can be prevented by strict adherence to a fructose-free diet. Top of Page [foodreactions.org]

An intolerance to sucrose occurs due to a digestive deficiency of the enzyme Sucrase which metabolises sugars in the stomach and prevents them from fermenting, it splits fructose and glucose for metabolising. [askanaturopath.com]

Patients usually will add 1-2ml of Sucraid to each meal or snack that contains sucrose to prevent the development of symptoms. [gastrohealth.com]

1. Puntis JW, Zamvar V. Congenital sucrase-isomaltase deficiency: diagnostic challenges and response to enzyme replacement therapy. Arch Dis Child. 2015;100(9):869-871.
2. Jacob R, Zimmer K-P, Schmitz J, Naim HY. Congenital sucrase-isomaltase deficiency arising from cleavage and secretion of a mutant form of the enzyme. J Clin Invest. 2000;106(2):281-287.
3. Geng L, Li D-Y, Ou W, et al. Congenital sucrase-isomaltase deficiency: an under-diagnosed disease in Chinese children. BMC Pediatr. 2014;14:11.
4. Robayo-Torres CC, Opekun AR, Quezada-Calvillo R, et al. 13C-Breath Tests for Sucrose Digestion in Congenital Sucrase Isomaltase Deficient and Sacrosidase Supplemented Patients. J Pediatr Gastroenterol Nutr. 2009;48(4):412-418.
5. Marcadier JL, Boland M, Scott CR, et al. Congenital sucrase–isomaltase deficiency: identification of a common Inuit founder mutation. CMAJ. 2015;187(2):102-107.
6. Belmont JW, Reid B, Taylor W, et al. Congenital sucrase-isomaltase deficiency presenting with failure to thrive, hypercalcemia, and nephrocalcinosis. BMC Pediatr. 2002;2:4.
7. Chumpitazi BP, Robayo-Torres CC, Opekun AR, Nichols BL, Naim HY. Congenital Sucrase-Isomaltase Deficiency: Summary of an Evaluation in One Family. J Pediatr Gastroenterol Nutr. 2012;55(0 2):S36.