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Last updated: August 10, 2020
Years published: 1990, 1998, 1999, 2006, 2007, 2020
NORD gratefully acknowledges Audrey M. Schlachter, MMSc, NORD Editorial Intern from the Emory University Genetic Counseling Training Program and Cecelia A. Bellcross, PhD, MS, CGC, Associate Professor, Director, Genetic Counseling Training Program, Emory University School of Medicine, for assistance in the preparation of this report.
Summary
Glucose-galactose malabsorption (GGM) is an inherited metabolic disorder. It is caused by the small intestines not being able to absorb and use glucose and galactose (simple sugars). Glucose and galactose have very similar chemical structures. The same protein carries both sugars into the intestines. The intestines absorb the simple sugars which are used throughout the body. The gene for GGM makes this enzyme work properly. When this gene is changed (mutated), the enzyme cannot bring the simple sugars into the small intestines, causing GGM.
Symptoms usually begin in the first days of life, when a newborn drinks milk. Milk is broken down into simple sugars. Symptoms include severe diarrhea which can lead to life-threatening dehydration and difficulties gaining weight. The diarrhea and dehydration are fatal if left untreated. Once symptoms are managed, affected children typically have a normal lifespan. The symptoms may become less severe as patients age, which can allow for some sugars to be introduced back into their diet.
Children with GGM can have infrequent diarrhea when eating high sugar foods. Mild amounts of sugar in the urine (glucosuria) of an affected child may be a warning that kidney stones are developing.
In adults, symptoms of GGM may include bloating, nausea, diarrhea, abdominal cramps, rumbling sounds caused by gas in the intestine and frequent urination.
Normally, the SCL5A1 gene creates a protein that transports glucose and galactose into the intestines and kidneys. These simple sugars are used throughout the body and removed through urination.
When the gene is not working, the sugars are not transported and absorbed properly. There is nowhere for the glucose and galactose to go except into the stool. These sugars draw large amounts of water out of the body and into the stool, leading to watery (osmotic) diarrhea.
GGM is a recessive genetic condition. Recessive genetic disorders occur when an individual inherits a non-working gene from each parent. If an individual receives one working gene and one non-working gene for the disease, the person will be a carrier for the disease, but usually will not show symptoms. The risk for two carrier parents to both pass on the non-working gene and, therefore, have an affected child is 25% with each pregnancy. The risk to have a child who is a carrier, like the parents, is 50% with each pregnancy. The chance for a child to receive working genes from both parents is 25%. The risk is the same for males and females.
GGM is an extremely rare disorder. There are around 300 cases worldwide. It appears to be more common in females. Most cases are seen in families where the parents are related by blood because they are more likely to carry the same harmful gene change.
GGM can be diagnosed by testing the SLC5A1 gene to look for harmful changes. Diagnosis may also be confirmed through restricting dietary sugars (glucose, galactose, sucrose and lactose) to see if the symptoms stop. Genetic testing is replacing the “glucose hydrogen breath test” which is now less frequently used.
Treatment
Treatment involves avoiding milk, milk products, and foods with glucose and galactose. Patients will need to follow a low glucose and low galactose diet. Fructose, a different simple sugar, can be used as a substitute for glucose and galactose. Some individuals may eventually be able to introduce these foods back into their diet, however, others may need to follow these restrictions for life. It is recommended that patients with GGM speak to a nutritionist familiar with the condition to identify a low or glucose-galactose-free diet and to see if gradual reintroduction is tolerated.
Information on current clinical trials is at www.clinicaltrials.gov All studies receiving U.S. government funding, and some supported by private industry, are posted on this government website.
For information about clinical trials being conducted at the National Institutes of Health (NIH) Clinical Center in Bethesda, MD, contact the NIH Patient Recruitment Office:
Tollfree: (800) 411-1222
TTY: (866) 411-1010
Email: [email protected]
Some current clinical trials also are posted on the following page on the NORD website:
https://rarediseases.org/living-with-a-rare-disease/find-clinical-trials/
For information about clinical trials sponsored by private sources, contact:
https://www.centerwatch.com/
For information about clinical trials conducted in Europe, contact:
https://www.clinicaltrialsregister.eu/
TEXTBOOKS
Prizont R. Glucose-Galactose Malabsorption. In: NORD Guide to Rare Disorders. Lippincott Williams & Wilkins. Philadelphia, PA. 2003:343.
Wright EM, Martin MG, Turk E. Familial Glucose-Galactose Malabsorption and Hereditary Renal Glycosuria. In: Scriver CR, Beaudet AL, Sly WS, et al. Eds. The Metabolic Molecular Basis of Inherited Disease. 8th ed. McGraw-Hill Companies. New York, NY; 2001:4895-904.
JOURNAL ARTICLES
Anderson S, Koniaris S, Xin B, Brooks SS. Congenital glucose-galactose malabsorption: a case report. J Pediatr Health Care. 2017;31(4):506–510. doi:10.1016/j.pedhc.2017.01.005
Berni Canani R, Pezzella V, Amoroso A, Cozzolino T, Di Scala C, Passariello A. Diagnosing and treating intolerance to carbohydrates in children. Nutrients. 2016;8(3). doi:10.3390/nu8030157
Saadah OI, Alghamdi SA, Sindi HH, Alhunaitti H, Bin-Taleb YY, Alhussaini BH. Congenital glucose-galactose malabsorption: a descriptive study of clinical characteristics and outcome from western Saudi Arabia. Arab J Gastroenterol. 2014;15(1):21-23. doi:10.1016/j.ajg.2014.01.004
Stelzner M, Chen DC. To make a new intestinal mucosa. Rejuvenation Res.2006;9:20-25.
Scheepers A, Joost HG, Schurmann A. The glucose transporter families SGLT and GLUT: molecular basis of normal and aberrant function. J Parenter Enteral Nutr. 2004;28:364-71.
Tasic V, Slaveska N, Blau N, Santer R. Nephrolithiasis in a child with glucose-galactose malabsorption. Pediatr Nephrol. 2004;19:244-46.
Wright Em, Martin MG, Turk E. Intestinal absorption in health and disease – sugars. Best Pract Res Clin Gastroenterol. 2003;17:943-56.
Wright EM, Turk E, Martin MG. Molecular basis for glucose-galactose malabsorption. Cell Biochem Biophys. 2002;36:115-21.
INTERNET
Glucose-galactose malabsorption. Genetic and Rare Disease Information (GARD). Last updated: 11/29/2016. https://rarediseases.info.nih.gov/diseases/6521/glucose-galactose-malabsorption Accessed July 27, 2020.
National Center for Biotechnology Information (US). Genes and Disease [Internet]. Bethesda (MD): National Center for Biotechnology Information (US); 1998-2020. Glucose galactose malabsorption. Available from: https://www.ncbi.nlm.nih.gov/books/NBK22210/ Accessed July 27, 2020.
Kniffin CL. Online Mendelian Inheritance In Man (OMIM). The Johns Hopkins University. Glucose/Galactose Malabsorption; GGM. Entry Number; 606824: Last Edit Date; 07/09/2016. https://www.omim.org/entry/606824 Accessed July 27, 2020.
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Learn more https://rarediseases.org/patient-assistance-programs/caregiver-respite/The information provided on this page is for informational purposes only. The National Organization for Rare Disorders (NORD) does not endorse the information presented. The content has been gathered in partnership with the MONDO Disease Ontology. Please consult with a healthcare professional for medical advice and treatment.
The Genetic and Rare Diseases Information Center (GARD) has information and resources for patients, caregivers, and families that may be helpful before and after diagnosis of this condition. GARD is a program of the National Center for Advancing Translational Sciences (NCATS), part of the National Institutes of Health (NIH).
View reportOrphanet has a summary about this condition that may include information on the diagnosis, care, and treatment as well as other resources. Some of the information and resources are available in languages other than English. The summary may include medical terms, so we encourage you to share and discuss this information with your doctor. Orphanet is the French National Institute for Health and Medical Research and the Health Programme of the European Union.
View reportOnline Mendelian Inheritance In Man (OMIM) has a summary of published research about this condition and includes references from the medical literature. The summary contains medical and scientific terms, so we encourage you to share and discuss this information with your doctor. OMIM is authored and edited at the McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine.
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