References

Ament ME, Perera DR, Esther LJ. Sucrase-isomaltase deficiency – a frequently misdiagnosed disease. J Pediatr. 1973;83(5):721-7. www.ncbi.nlm.nih.gov/pubmed/4742566

 

Anderson CM, Kerry KR, Townley RR. An inborn defect of intestinal absorption of certain monosaccharides. Arch Dis Child. 1965;40:1-6. www.ncbi.nlm.nih.gov/pmc/articles/PMC2019270/pdf/archdisch01574-0009.pdf

 

Anderson CM, Messer M, Townley RR, Freeman M. Intestinal sucrase and isomaltase deficiency in two siblings. Pediatrics. 1963;31:1003-10. www.ncbi.nlm.nih.gov/pubmed/14012820

 

Antonowicz I, Lloyd-Still JD, Khaw KT, Shwachman H. Congenital sucrase-isomaltase deficiency. Observations over a period of 6 years. Pediatrics. 1972;49(6):847-53. www.ncbi.nlm.nih.gov/pubmed/5041318

 

Auricchio S, Dahlqvist A, Semenza G. Solubilization of the human intestinal disaccharidases. Biochim Biophys Acta. 1963;73:582-7. www.ncbi.nlm.nih.gov/pubmed/14074133

 

Auricchio S, Rubino A, Prader A, et al. Intestinal glycosidase activities in congenital malabsorption of disaccharides. J Pediatr. 1965;66:555-64. www.ncbi.nlm.nih.gov/pubmed/14264313

 

Bond JH, Levitt MD. Use of breath hydrogen (H2) in the study of carbohydrate absorption. Am J Dig Dis. 1977;22(4):379-82. www.ncbi.nlm.nih.gov/pubmed/855851

 

Calorie Control Council. Sorting out the sicence on sugars. Accessed March 8, 2019. https://caloriecontrol.org/sorting-out-the-science-on-sugars/

 

Codain L, Eaton SB, Sebastian A, et al. Origins and evolution of the Western diet: health implications for the 21st century. Am J Clin Nutr. 2005;81(2):341-54. doi: 10.1093/ajcn.81.2.341

 

QOL Medical, LLC. Long-term sucrase enzyme therapy for congenital sucrase-isomaltase deficiency (study report). Data on file, 1998.

 

Davidson GP, Robb TA. Value of breath hydrogen analysis in management of diarrheal illness in childhood: comparison with duodenal biopsy. J Pediatr Gastroenterol Nutr. 1985;4(3):381-7. www.ncbi.nlm.nih.gov/pubmed/4020571

 

Davis MB, Green F, West L, Kearney A, Povey S, Swallow D. Mapping of the gene encoding human sucrase-isomaltase (SI) to chromosome 3q25-26. Cytogenet Cell Genet. 1987;46(1-4):604.

 

The National Academies of Sciences, Engineering, Medicine. Dietary carbohydrates: sugars and starches. Posted 2005. https://www.nap.edu/read/10490/chapter/8

 

Douwes AC, Schaap C, van der Klei-van Moorsel JM. Hydrogen breath test in schoolchildren. Arch Dis Child. 1985;60(4):333-7. https://adc.bmj.com/content/archdischild/60/4/333.full.pdf

 

Drozdowski LA, Thomson AB. Intestinal sugar transport. World J Gastroenterology. 2006;12(11):1657-70. https://intestinalsugartrasport.pdf

 

de Zoeten EF, Markowitz J, Loomes KM, Mamula P, Piccoli DA. A 9-month old girl with chronic diarrhea. Medscape J Med. 2008;10(8):195. www.ncbi.nlm.nih.gov/pmc/articles/PMC2562142

 

Family Voices. Family/Professional Partnerships. Posted June 25, 2018. http://familyvoices.org/familyprofessionalpartnerships/

 

Gray GM. Carbohydrate digestion and absorption. Role of the small intestine. N Engl J Med. 1975;292(23):1225-30. doi: 10.1056/NEJM197506052922308

 

Gudmand-Høyer E. Sucrose malabsorption in children: a report of thirty-one Greenlanders. J Pediatr Gastroenterol Nutr. 1985;4(6):873-7. www.ncbi.nlm.nih.gov/pubmed/4067774

 

Gudmand-Høyer E, Krasilnikoff PA, Skovberg H. Sucrose-isomaltose malabsorption. Adv Nutr Res. 1984;6:233-69. www.ncbi.nlm.nih.gov/pubmed/6391112

 

Hamaker BR, Lee BH, Quezada-Calvillo R. Starch digestion and patients with congenital sucrase-isomaltase deficiency. J Pediatr Gastroenterol Nutr. 2012;55(suppl 2):S24-8. https://journals.lww.com/jpgn/Fulltext/2012/11002/Starch_Digestion_and_Patients_With_Congenital.7.aspx

 

Harms HK, Bertele-Harms RM, Bruer-Kleis D. Enzyme-substitution therapy with the yeast Saccharomyces cerevisiae in congenital sucrase-isomaltase deficiency. N Engl J Med. 1987;316(21):1306-9. doi: 10.1056/NEJM198705213162104

 

Hunziker W, Spiess M, Semenza G, Lodish HF. The sucrase-isomaltase complex: primary structure, membrane-orientation, and evolution of a stalked, intrinsic brush border protein. Cell. 1986;46(2):227-34. www.ncbi.nlm.nih.gov/pubmed/3755079

 

International Food Information Council Foundation. Sugars: what’s in a name? https://foodinsight.org/sugars-whats-in-a-name/

 

Jonega JV. Digestion, disease and diet: mechanisms and management of irritable bowel syndrome and other digestive disorders. Presented at: Action Against Allergy Workshop, The Royal Entomological Society; September 24, 2003; Queens Gate, London.

 

Jonega JV. Disaccharide intolerance. In: Dealing with Food Allergies: A Practical Guide to Detecting Culprit Foods and Eating a Healthy, Enjoyable Diet. 1st ed. Boulder, CO: Bull Publishing Company; 2003: 223-32. www.amazon.com/Dealing-Food-Allergies-Practical-Detecting/dp/092352164X

 

Joseph F Jr, Rosenberg AJ. Breath hydrogen testing: diseased versus normal patients. J Pediatr Gastroenterol Nutr. 1988;7(5):787-8. www.ncbi.nlm.nih.gov/pubmed/3183884

 

Karnsakul W, Luginbuehl U, Hahn D, et al. Disaccharidase activities in dyspeptic children: biochemical and molecular investigations of maltase-glucoamylase activity. J Pediatr Gastroenterol Nutr. 2002;35(4):551-6. www.ncbi.nlm.nih.gov/pubmed/12394383

 

Kilby A, Burgess EA, Wigglesworth S, Walker-Smith JA. Sucrase-isomaltase deficiency. A follow-up report. Arch Dis Child. 1978;53(8):677-9. www.ncbi.nlm.nih.gov/pmc/articles/PMC1545065/

 

Lebenthal E, Khin-Maung-U, Zheng BY, Lu RB, Lerner A. Small intestinal glucoamylase deficiency and starch malabsorption: a newly recognized alpha-glucosidase deficiency in children. J Pediatr. 1994;124(4):541-6. www.ncbi.nlm.nih.gov/pubmed/8151467

 

Lin AH, Hamaker BR, Nichols BL Jr. Direct starch digestion by sucrase-isomaltase and maltase-glucoamylase. J Pediatr Gastroenterol Nutr. 2012;55(suppl 2):S43-5. https://journals.lww.com/jpgn/Fulltext/2012/11002/Direct_Starch_Digestion_by_Sucrase_Isomaltase_and.17.aspx

 

McMeans AR. Congenital sucrase-isomaltase deficiency: diet assessment and education guidelines. J Pediatr Gastroenterol Nutr. 2012;55(suppl 2):S37-9. https://journals.lww.com/jpgn/Fulltext/2012/11002/Congenital_Sucrase_Isomaltase_Deficiency___Diet.13.aspx

 

Naim HY, Heine M, Zimmer KP. Congenital sucrase-isomaltase deficiency: heterogeneity of inheritance, trafficking, and function of an intestinal enzyme complex. J Pediatr Gastroenterol Nutr. 2012;55(suppl 2):S13-20. https://journals.lww.com/jpgn/Fulltext/2012/11002/Congenital_Sucrase_Isomaltase_Deficiency__.5.aspx

 

Naim HY, Roth J, Sterchi EE, et al. Sucrase-isomaltase deficiency in humans. Different mutations disrupt intracellular transport, processing, and function of an intestinal brush border enzyme. J Clin Invest. 1988;82(2):667-79. www.ncbi.nlm.nih.gov/pmc/articles/PMC303562/pdf/jcinvest00080-0297.pdf

 

Nichols BL Jr, Auricchio S. 50 years of progress since congenital sucrase-isomaltase deficiency recognition. J Pediatr Gastroenterol Nutr. 2012;55(suppl 2):S2-7. https://journals.lww.com/jpgn/Fulltext/2012/11002/50_Years_of_Progress_Since_Congenital.3.aspx

 

Nichols BL, Avery SE, Karnsakul W, et al. Congenital maltase-glucoamylase deficiency associated with lactase and sucrase deficiencies. J Pediatr Gastroenterol Nutr. 2002;35(4):573-9. www.ncbi.nlm.nih.gov/pubmed/12394387

 

New Zealand Food Composition Data, Plant & Food Research, and Ministry of Health. The concise New Zealand food composition talbes, 12th edition. Posted 2016. www.foodcomposition.co.nz/downloads/concise-12-edition.pdf

 

Ouwendijk J, Moolenaar CE, Peters WJ, et al. Congenital sucrase-isomaltase deficiency. Identification of a glutamine to proline substitution that leads to a transport block of sucrase-isomaltase in a pre-Golgi compartment. J Clin Invest. 1996;97(3):633-41. doi: 10.1172/JCI118459

 

Perman JA, Barr RG, Watkins JB. Sucrose malabsorption in children: noninvasive diagnosis by interval breath hydrogen determination. J Pediatr. 1978;93(1):17-22. www.ncbi.nlm.nih.gov/pubmed/650340

 

Peterson ML, Herber R. Intestinal sucrase deficiency. Trans Assoc Am Physicians. 1967;80:275-83. www.ncbi.nlm.nih.gov/pubmed/6082247

 

Quezada-Calvillo R, Robayo-Torres CC, Ao Z, et al. Luminal substrate “brake” on mucosal maltase-glucoamylase activity regulates total rate of starch digestion to glucose. J Pediatr Gastroenterol Nutr. 2007;45(1):32-43. https://journals.lww.com/jpgn/fulltext/2007/07000/Luminal_Substrate__Brake__on_Mucosal.6.aspx

 

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):412-8. www.ncbi.nlm.nih.gov/pmc/articles/PMC3955999/pdf/nihms84833.pdf

 

Ritz V, Alfalah M, Zimmer KP, Schmitz J, Jacob R, Naim HY. Congenital sucrase-isomaltase deficiency because of an accumulation of the mutant enzyme in the endoplasmic reticulum. Gastroenterol. 2003;125(6):1678-85. www.gastrojournal.org/article/S0016-5085(03)01510-5/pdf

 

Sander P, Alfalah M, Keiser M, et al. Novel mutations in the human sucrase-isomaltase gene (SI) that cause congenital carbohydrate malabsorption. Hum Mutat. 2006;27(1):119. https://doi.org/10.1002/humu.9392

 

Semenza G, Auricchio S, Rubino A, Prader A, Welsh JD. Lack of some intestinal maltases in a human disease transmitted by a single genetic factor. Biochim Biophys Acta. 1965;105(2):386-9. www.ncbi.nlm.nih.gov/pubmed/5849827

 

Skovbjerg H. Krasilnikoff PA. Maltase-glucoamylase and residual isomaltase in sucrose intolerant patients. J Pediatr Gastroenterol Nutr. 1986;5(3):365-71. www.ncbi.nlm.nih.gov/pubmed/3088247

 

Sucraid [package insert]. Vero Beach, FL: QOL Medical, LLC; 2018. www.sucraid.com/wp-content/uploads/2018/10/SucPI_R0918.pdf

 

Treem WR. Clinical aspects and treatment of congenital sucrase-isomaltase deficiency. J Pediatr Gastroenterol Nutr. 2012;55(suppl 2):S7-13. https://journals.lww.com/jpgn/Fulltext/2012/11002/Clinical_Aspects_and_Treatment_of_Congenital.4.aspx

 

Treem WR. Clinical heterogeneity in congenital sucrase-isomaltase deficiency. J Pediatr. 1996;128(6):727-9. www.ncbi.nlm.nih.gov/pubmed/8648527

 

Treem WR. Congenital sucrase-isomaltase deficiency. J Pediatr Gastroenterol Nutr. 1995;21:1-14. www.ncbi.nlm.nih.gov/pubmed/8576798

 

Treem WR, Ahsan N, Sullivan B, et al. Evaluation of liquid yeast-derived sucrase enzyme replacement in patients with sucrase-isomaltase deficiency. Gastroenterol. 1993;105(4):1061-8. www.gastrojournal.org/article/0016-5085(93)90950-H/pdf

 

United States Department of Agriculture. USDA Food Composition Databases. Posted April 2018. https://ndb.nal.usda.gov/ndb/nutrients/index

 

Uhrich S, Wu Z, Huang JY, Scott CR. Four mutations in the SI gene are responsible for the majority of clinical symptoms of CSID. J Pediatr Gastroenterol Nutr. 2012;55(suppl 2):S34-5. https://journals.lww.com/jpgn/Fulltext/2012/11002/Four_Mutations_in_the_SI_Gene_Are_Responsible_for.11.aspx

 

Weijers HA, van de Kamer JH, Mossel DA, Dicke WK. Diarrhoea caused by deficiency of sugar-splitting enzymes. Lancet. 1960;2(7145):296-7. https://dspace.library.uu.nl/bitstream/handle/1874/18595/weijers_60_diarrhoea.pdf;sequence=1

 

Welsh JD, Poley JR, Bhatia M, Stevenson DE. Intestinal disaccharidase activities in relation to age, race, and mucosal damage. Gastroenterology. 1978;75(5):847-55. www.ncbi.nlm.nih.gov/pubmed/100368