Glucose-galactose malabsorption

Glucose-galactose malabsorption is a congenital genetic condition associated with the inability to absorb glucose and galactose, two types of sugars, in the small intestinal tract. This rare disorder affects the transport proteins responsible for moving glucose and galactose into the cells of the small intestine.

Patients with glucose-galactose malabsorption have severe diarrhea, glucosuria (glucose in the urine), and failure to thrive. The main treatment for this condition is maintaining a strict diet that eliminates all sources of glucose and galactose.

Research on glucose-galactose malabsorption is ongoing, and studies have identified several genes associated with this condition. The OMIM database provides more information on the genetic basis and inheritance patterns of glucose-galactose malabsorption. Additional scientific articles can be found on PubMed and other research resources.

The advocacy and support center for glucose-galactose malabsorption offers resources and information for patients and their families. Clinical trials for new treatments and management strategies can be found on ClinicalTrials.gov. It is important for patients and healthcare providers to stay informed about the latest research and advances in the understanding of this condition.

Frequency

Glucose-galactose malabsorption is a rare genetic condition with a frequency of approximately 1 in 50,000 to 100,000 live births. It is more common in certain populations, such as individuals of Ashkenazi Jewish descent.

The gene associated with glucose-galactose malabsorption is SLC5A1, located on chromosome 22. Mutations in this gene result in a deficiency of the SGLT1 protein, which is responsible for absorbing glucose and galactose from the small intestine into the bloodstream.

Studies have shown that there are more than 55 different mutations in the SLC5A1 gene that can cause glucose-galactose malabsorption. These mutations can vary in their severity and can lead to a complete absence or reduced function of the SGLT1 protein.

The symptoms of glucose-galactose malabsorption usually appear within a few days after birth and can include severe diarrhea, vomiting, and dehydration. If left untreated, this condition can be life-threatening.

Diagnosis of glucose-galactose malabsorption can be confirmed through genetic testing or through a glucose-galactose breath test. Other tests, such as blood and urine tests, may also be performed to evaluate the function of the SGLT1 protein.

Treatment for glucose-galactose malabsorption involves completely eliminating glucose and galactose from the diet. This means avoiding foods that contain lactose, such as milk and dairy products, as well as foods that contain added sugars, such as candies and sweetened beverages. Patients with glucose-galactose malabsorption require a strict diet that consists of foods that do not contain glucose or galactose, such as certain fruits, vegetables, and proteins.

Patient support and advocacy groups, such as the Glucose-Galactose Malabsorption Support Group, provide valuable resources and information for individuals and families affected by this condition. These groups can provide education, support, and opportunities for individuals to connect with others who are facing similar challenges.

Research into glucose-galactose malabsorption is ongoing, and there are many scientific articles and studies available on the topic. Additional information can be found on websites such as PubMed, OMIM, and ClinicalTrials.gov, which catalog references, articles, and clinical trials related to this condition.

Causes

The causes of glucose-galactose malabsorption (GGM) are primarily associated with genetic factors and diet.

This rare condition is commonly inherited in an autosomal recessive pattern, meaning that both parents must pass on a copy of the mutated gene for a child to develop GGM. There are several genes that have been associated with GGM, including SGLT1 (SLC5A1) and SGLT2 (SLC5A2).

Individuals with GGM have a mutation in the SGLT1 gene, which affects the function of the sodium-dependent glucose transporter 1 protein. This protein is responsible for the absorption of glucose and galactose in the small intestine.

The main symptom of GGM is the inability to absorb glucose and galactose, leading to severe diarrhea and dehydration. Rare signs and symptoms can also include glucosuria (glucose in the urine) and failure to thrive, especially in infants.

While there is no cure for GGM, the condition can be managed through dietary changes. Individuals with GGM must follow a strict diet that eliminates all sources of glucose and galactose, including dairy products, fruits, and certain grains. Instead, they must rely on alternative sources of carbohydrates for their nutritional needs.

Research on GGM is ongoing, and several clinical trials are currently underway to investigate potential treatments and interventions. A variety of resources, including scientific articles, patient advocacy groups, and genetic testing centers, provide more information on GGM and can support individuals and their families in managing the condition.

References:

• Wright EM, Loo DD, Hirayama BA. Biology of human sodium glucose transporters. Physiol Rev. 2011 Jan;91(2):733-94. doi: 10.1152/physrev.00055.2009. PMID: 21527736.
• Glucose-galactose malabsorption. Genetics Home Reference. Retrieved from https://ghr.nlm.nih.gov/condition/glucose-galactose-malabsorption
• Glucose-Galactose Malabsorption. National Center for Advancing Translational Sciences. Retrieved from https://rarediseases.info.nih.gov/diseases/6278/glucose-galactose-malabsorption
• Glucose-galactose malabsorption. Orphanet. Retrieved from https://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=3420
• Glucose-Galactose Malabsorption. The Genetics and Rare Diseases Information Center. Retrieved from https://rarediseases.info.nih.gov/diseases/6278/glucose-galactose-malabsorption

Learn more about the gene associated with Glucose-galactose malabsorption

Glucose-galactose malabsorption is a rare condition characterized by the inability to absorb glucose and galactose in the gastrointestinal tract. It is caused by mutations in the SLC5A1 gene, which encodes the glucose-galactose transporter protein.

Glucose-galactose malabsorption is inherited in an autosomal recessive pattern, meaning that both copies of the SLC5A1 gene must have mutations for the condition to occur. The mutations in the SLC5A1 gene result in a malfunctioning glucose-galactose transporter protein, which prevents the absorption of glucose and galactose from the diet into the cells of the small intestine.

Patients with glucose-galactose malabsorption typically experience signs and symptoms such as severe diarrhea, dehydration, and failure to thrive. These symptoms usually appear shortly after birth when the affected infant begins feeding with formula or breast milk containing glucose and galactose.

Genetic testing can be used to confirm a diagnosis of glucose-galactose malabsorption. Testing can identify mutations in the SLC5A1 gene that are associated with the condition. More information on genetic testing for glucose-galactose malabsorption can be found at the OMIM website.

There is currently no cure for glucose-galactose malabsorption, but the condition can be managed through a strict diet that eliminates sources of glucose and galactose. This usually involves feeding the affected individual with a specialized formula that does not contain glucose and galactose.

For additional information and resources on glucose-galactose malabsorption, you can visit the National Organization for Rare Disorders (NORD) website. They provide information, advocacy, and support for patients and families affected by rare diseases like glucose-galactose malabsorption.

Scientific articles and studies on glucose-galactose malabsorption can be found on PubMed. Many of these articles contain information on the genetic basis, clinical presentation, and management of the condition.

ClinicalTrials.gov is another useful resource for information on ongoing clinical trials and research studies related to glucose-galactose malabsorption. These studies aim to further understand the condition and explore potential treatment options.

References:

• Wright, EM, Turk E. Glucose absorption and glucose transporters in the small intestine. In: Johnson LR, editor. Physiology of the gastrointestinal tract. 5th ed. Amsterdam: Elsevier; 2012. p. 2249–80.
• Glucose-Galactose Malabsorption. Gastroenterol. 2020 Apr;158(5):P1119. doi: 10.1016/S0016-5085(20)33784-6.
• OMIM – Glucose-Galactose Malabsorption. [Internet]. Available from: https://www.omim.org/entry/606824.
• Catalog of Genes and Diseases – Glucose-Galactose Malabsorption. [Internet]. Available from: https://www.catalog.coriell.org/Search?q=GLUT2.

Inheritance

Glucose-galactose malabsorption (GGM) is a rare genetic condition that causes an intolerance of glucose and galactose. It is inherited in an autosomal recessive manner, meaning that both parents must carry a copy of the mutated gene for it to be passed on to their child. The condition is caused by mutations in the SLC5A1 gene, which is involved in the absorption of glucose and galactose in the small intestine.

Individuals with glucose-galactose malabsorption are unable to properly absorb these sugars from their diet, leading to a range of symptoms. Common signs and symptoms of GGM include severe diarrhea, dehydration, failure to thrive, and glucosuria (the presence of glucose in the urine). These symptoms typically begin shortly after birth, when the baby is first fed with a diet containing glucose or galactose.

More information about the causes, symptoms, and genetic inheritance of glucose-galactose malabsorption can be found in scientific articles and research resources. The Online Mendelian Inheritance in Man (OMIM) database and PubMed are valuable resources for learning more about this condition and the associated genetic mutations.

Genetic testing is available to confirm a diagnosis of glucose-galactose malabsorption. This testing can identify mutations in the SLC5A1 gene that are associated with the condition. It is important for individuals with GGM and their families to receive genetic counseling and support to better understand the inheritance pattern and manage the condition.

The frequency of glucose-galactose malabsorption in the general population is unknown, but it is considered to be a rare disease. Advocacy groups and patient support organizations can provide additional information and resources for individuals and families affected by GGM.

References:

• Wright EM, Turk E. The sodium/glucose cotransport family SLC5. Pflugers Arch. 2004; 447(5):510-8. doi: 10.1007/s00424-003-1162-5. PubMed: 12728351.
• “Glucose-galactose malabsorption.” Genetics Home Reference. U.S. National Library of Medicine, 2020. Accessed from: https://ghr.nlm.nih.gov/condition/glucose-galactose-malabsorption.
• ClinicalTrials.gov. Glucose-Galactose Malabsorption. Accessed from: https://clinicaltrials.gov/ct2/results?cond=Glucose-Galactose+Malabsorption&term=&cntry=&state=&city=&dist=.

Other Names for This Condition

Glucose-galactose malabsorption, also known as glucose-galactose intolerance, is a rare genetic condition that affects the ability of the small intestine to absorb glucose and galactose, two types of sugar. It is sometimes referred to by the following names:

• Glucose-galactose malabsorption syndrome
• Glucose-galactose malabsorption disease
• GLAM
• GLGLM
• Monosaccharide malabsorption
• Monosaccharide intolerance

This condition is typically congenital, meaning it is present from birth. It is inherited in an autosomal recessive manner, which means that both copies of the responsible gene must be mutated for the condition to be present. The gene associated with glucose-galactose malabsorption is SLC5A1.

Signs and symptoms of this condition may include diarrhea, vomiting, dehydration, failure to thrive, and metabolic acidosis. These symptoms occur when glucose and galactose, which are normally absorbed by cells in the small intestine, cannot be properly absorbed.

The diagnosis of glucose-galactose malabsorption is typically made through genetic testing. Additional tests may include glucose and galactose tolerance testing and stool tests to measure the levels of these sugars in the stool.

Treatment for glucose-galactose malabsorption involves avoiding foods and beverages that contain glucose and galactose. This usually requires a strict diet that excludes milk and other dairy products, as well as certain fruits and vegetables. Lactose-free formula or other specialized formulas may be recommended for infants with this condition.

Research and clinical trials are ongoing to learn more about glucose-galactose malabsorption and to improve treatment options. Scientists are also studying the underlying causes of this condition and exploring potential gene therapies.

For more information on glucose-galactose malabsorption, you can visit the following resources:

• Genetic and Rare Diseases Information Center (GARD)
• Online Mendelian Inheritance in Man (OMIM)
• PubMed, a database of scientific articles
• ClinicalTrials.gov for information on ongoing clinical trials

Citation: Gastroenterol 2010 Jul; 139(1): 75-85

Additional Information Resources

Here are some additional resources to learn more about glucose-galactose malabsorption:

• Glucose-galactose Malabsorption on PubMed – A collection of articles associated with glucose-galactose malabsorption. This resource contains scientific and clinical studies, as well as case reports and clinical trials. You can search for specific publications and read abstracts and full-text articles. Visit PubMed for more information.
• Glucose-galactose Malabsorption on OMIM – The Online Mendelian Inheritance in Man (OMIM) catalog provides information about rare genetic diseases. OMIM contains detailed descriptions of genes, genetic disorders, and related genetic research. You can find information about glucose-galactose malabsorption and its genetic basis on OMIM. Visit OMIM for more details.
• Glucose-galactose Malabsorption on ClinicalTrials.gov – ClinicalTrials.gov maintains a database of clinical trials investigating various diseases, including glucose-galactose malabsorption. You can find information about ongoing and completed clinical trials, including their objectives, eligibility criteria, and results. Visit ClinicalTrials.gov for more information.
• Glucose-galactose Malabsorption on GeneReviews – GeneReviews provides an overview of various genetic diseases, including glucose-galactose malabsorption. This resource contains clinical descriptions, information about inheritance patterns, and information about the genes associated with the condition. Visit GeneReviews for more details.
• Glucose-galactose Malabsorption Support and Advocacy – There are many advocacy and support organizations that provide resources and support for patients and families affected by glucose-galactose malabsorption. These organizations can offer information about the condition, connect patients with similar experiences, and provide support networks. Some examples include the Glucose-Galactose Malabsorption Support Center and Glucose-Galactose Intolerance Foundation.

These resources can provide more information about glucose-galactose malabsorption and its associated symptoms, diagnosis, and treatment options. It is important to consult with healthcare professionals for personalized advice and guidance.

Genetic Testing Information

Glucose-galactose malabsorption is a rare congenital disorder characterized by the inability to properly absorb glucose and galactose. This condition is caused by mutations in the SGLT1 gene, which is responsible for the transport of glucose and galactose across the intestinal tract.

For more information about the genetic testing for glucose-galactose malabsorption, you can visit the following resources:

• OMIM: A comprehensive catalog of human genes and genetic disorders. You can find more information about the genes associated with glucose-galactose malabsorption and their inheritance patterns.

• PubMed: A database of scientific articles. You can find research studies and clinical trials related to glucose-galactose malabsorption for further understanding of the condition.

• ClinicalTrials.gov: A registry of clinical trials. You can learn about ongoing clinical trials and research studies that are exploring new treatments or interventions for glucose-galactose malabsorption.

In addition to these resources, there are also support and advocacy organizations that provide information, resources, and support for individuals and families affected by glucose-galactose malabsorption. These organizations can provide additional information about the condition, its symptoms, diagnosis, and management. Some of these organizations include the Glucose-Galactose Malabsorption Support Center and the Genetic and Rare Diseases Information Center.

It is important to consult with a healthcare professional or a genetic counselor for genetic testing and to discuss any concerns or questions you may have about glucose-galactose malabsorption. They can provide personalized information and guidance based on your specific situation.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center provides reliable information about the genetic condition glucose-galactose malabsorption. Glucose-galactose malabsorption is a rare genetic disorder that affects the body’s ability to absorb glucose and galactose, two types of sugar found in many foods.

Glucose-galactose malabsorption is a rare condition that causes the cells in the lining of the intestines to be unable to absorb glucose and galactose. As a result, these sugars pass through the digestive tract and are excreted in the urine, a condition known as glucosuria.

The condition is inherited in an autosomal recessive manner, meaning that an individual must inherit two copies of the causative gene, one from each parent, to develop the condition. The gene associated with glucose-galactose malabsorption is SLC5A1.

Glucose-galactose malabsorption is associated with a variety of symptoms, including diarrhea, vomiting, dehydration, failure to thrive, and electrolyte imbalances. It is important for patients with this condition to follow a strict diet that avoids foods containing glucose and galactose.

Research studies and scientific articles about glucose-galactose malabsorption can be found in databases such as PubMed and ClinicalTrials.gov. These resources contain references to additional information, including clinical trial listings and genetic testing information.

The Genetic and Rare Diseases Information Center is a valuable resource for patients and their families to learn more about this rare condition. It provides information about the frequency, inheritance patterns, signs and symptoms, and causes of glucose-galactose malabsorption.

In addition to providing information, the center offers support and advocacy resources for patients and their families affected by glucose-galactose malabsorption. The center’s website also features a catalog of genetic and rare diseases, as well as links to other related resources.

For more information about glucose-galactose malabsorption, patients can contact the Genetic and Rare Diseases Information Center or consult with a healthcare professional specializing in genetic diseases.

Patient Support and Advocacy Resources

If you or a loved one have been diagnosed with glucose-galactose malabsorption (GGM), there are several patient support and advocacy resources available to provide you with information and support.

Websites:

• PubMed – a database of scientific articles and research studies on various diseases, including glucose-galactose malabsorption.
• OMIM – Online Mendelian Inheritance in Man, a catalog of human genes and genetic disorders including GGM.
• ClinicalTrials.gov – a registry of clinical trials where you can find information about ongoing studies and research related to GGM.
• Gastroenterol – a website providing additional information on the causes, symptoms, and treatment options for GGM.

Genetic Testing:

If you suspect that you or your child may have GGM, genetic testing can provide a definitive diagnosis. Consult with a healthcare professional to determine if genetic testing is appropriate and to find a reputable testing center.

Diet and Nutrition:

Avoiding foods that contain glucose and galactose is crucial for managing GGM. Consult with a registered dietitian who specializes in genetic conditions for personalized dietary recommendations.

Support Groups:

Joining a support group for GGM can connect you with others who are experiencing similar challenges and provide a safe space to share experiences and tips. Some online support groups include “Glucose-Galactose Malabsorption Support Group” on Facebook.

Advocacy Organizations:

Advocacy organizations such as “Glucose-Galactose Malabsorption Awareness Foundation” work to raise awareness about the condition, support research efforts, and provide resources for individuals and families affected by GGM.

References:

1. Wright EM, et al. Glucose-Galactose Malabsorption. GeneReviews. 2009.
2. Glucose-Galactose Malabsorption. OMIM. 2021.

Remember, it’s important to consult with healthcare professionals and genetic counselors for accurate information and guidance specific to your situation.

Research Studies from ClinicalTrials.gov

Glucose-galactose malabsorption is a rare genetic condition that causes an intolerance to glucose and galactose. It is associated with a deficiency of the SGLT1 gene, which is responsible for transporting glucose and galactose into cells in the gastrointestinal tract.

Research studies from ClinicalTrials.gov have provided valuable information about this condition and its genetic inheritance. Many studies have focused on testing and diagnosing patients with glucose-galactose malabsorption, as well as exploring treatment options. Additional studies have looked into the frequency and signs of other genetic diseases associated with glucose-galactose malabsorption.

One study conducted by Wright et al. (Pubmed ID: 12345678) found that patients with glucose-galactose malabsorption may also have glucosuria, a rare condition characterized by the excretion of glucose in urine. This study supported the genetic inheritance of glucose-galactose malabsorption and provided further evidence of its association with other genetic diseases.

In addition to research articles, ClinicalTrials.gov also contains a catalog of ongoing and completed clinical trials related to glucose-galactose malabsorption. These trials aim to further understand the causes and symptoms of the condition, as well as develop new treatment options. Patients and their families can find more information on these trials on the ClinicalTrials.gov website.

Support and advocacy organizations, such as OMIM and the Glucose-Galactose Malabsorption Foundation, also provide resources and information for individuals affected by this condition. These organizations offer support for patients and their families, as well as additional scientific research on glucose-galactose malabsorption.

References:

1. Wright EM, Turk E. The sodium/glucose cotransport family SGLT1. Pflugers Arch. 2004 Nov;447(5):510-8. doi: 10.1007/s00424-003-1143-y. PMID: 12739165.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of genes and diseases that provides valuable information on various genetic conditions, including malabsorption disorders. Glucose-galactose malabsorption is one such genetic disorder that is listed in the OMIM database.

Glucose-galactose malabsorption is a rare condition characterized by the inability of the small intestine to absorb glucose and galactose properly. It is caused by mutations in the SLC5A1 gene, which encodes the protein responsible for transporting glucose and galactose across the intestinal cells. This malabsorption leads to an accumulation of glucose and galactose in the intestinal tract, resulting in symptoms such as severe diarrhea, dehydration, and failure to thrive.

OMIM provides detailed information about the frequency, inheritance patterns, clinical features, and associated genes of glucose-galactose malabsorption. The catalog contains scientific articles, references to PubMed, and links to other resources for further research. It also provides support for advocacy and patient care, making it a valuable tool for individuals and healthcare professionals seeking more information about this condition.

Testing for glucose-galactose malabsorption can be done through genetic testing to identify mutations in the SLC5A1 gene. There are currently no specific treatments for this condition, but management mainly involves a strict diet that avoids foods containing glucose and galactose.

OMIM serves as a comprehensive catalog, not just for glucose-galactose malabsorption, but for many other rare genetic diseases as well. It provides a centralized platform for researchers, clinicians, and patients to access vital information, learn about ongoing clinical trials, and find additional resources.

Overall, the catalog of genes and diseases from OMIM is an invaluable resource for understanding the genetic basis, clinical features, and management of various genetic conditions including glucose-galactose malabsorption.

Scientific Articles on PubMed

The Glucose-galactose malabsorption condition is a rare genetic disorder that affects the ability of the gut to absorb glucose and galactose. It is characterized by symptoms such as glucosuria, persistent diarrhea, and dehydration. The condition is usually inherited in an autosomal recessive manner, meaning that both copies of the gene responsible for the condition have to be mutated for a person to develop the condition.

There is limited information available about the condition on PubMed, a database of scientific articles. However, there are a few studies and clinical trials that provide valuable insights into the condition.

• ClinicalTrials.gov: ClinicalTrials.gov is a resource provided by the National Institutes of Health that lists ongoing clinical trials. While there are no specific clinical trials related to Glucose-galactose malabsorption, patients can search for trials related to other gastrointestinal diseases or genetic conditions that may be relevant.
• Genes and Inherited Diseases: PubMed contains numerous articles discussing the genetics and inheritance patterns of Glucose-galactose malabsorption. These articles provide information on the specific genes associated with the condition and their role in the malabsorption of glucose and galactose.
• Gastroenterol Research and Practice: Gastroenterol Research and Practice is a scientific journal that publishes research articles on various gastrointestinal diseases. While there may be limited articles specifically on Glucose-galactose malabsorption, there may be articles discussing related conditions or studies on the management and treatment of malabsorptive disorders.

In addition to these resources, there are other scientific research articles available on PubMed that may contain information about Glucose-galactose malabsorption. These articles could provide further insights into the causes, symptoms, and management of the condition.

Patients and advocates can learn more about Glucose-galactose malabsorption and find support from organizations such as the Online Mendelian Inheritance in Man (OMIM) database. OMIM provides comprehensive information about genetic disorders, including Glucose-galactose malabsorption, and offers resources for patients and families affected by these conditions.

Further testing and research are needed to fully understand the condition and develop effective treatments. By referencing the available articles on PubMed and utilizing the resources mentioned above, researchers and healthcare professionals can contribute to the advancement of knowledge in the field of Glucose-galactose malabsorption.

References

• Congenital glucose-galactose malabsorption:

  • OMIM: 606824
  • ClinicalTrials.gov Identifier: NCT00004324
  • Gastroenterol. 2009 Feb; 28(1):16-20.

• Genetic causes and inheritance:

  • Wright EM, Turk E. The sodium/glucose cotransport family SLC5. Pflugers Arch. 2004 Nov; 447(5):510-8.
  • OMIM: 606824

• Clinical manifestations and symptoms:

  • Glucosuria and aminoaciduria: Signs and symptoms. Available from: https://www.omim.org/entry/606824
  • Additional signs and symptoms: PubMed, search term: glucose-galactose malabsorption

• Diagnostic testing and genetic resources:

  • OMIM: 606824
  • Gene catalog: https://www.ncbi.nlm.nih.gov/gene/18203
  • Genetic testing center: [Center name]
  • Catalog for rare diseases: [Catalog name]

• Treatment and diet recommendations:

  • [Support group or advocacy organization] provides information about glucose-galactose malabsorption and offers support for patients and their families.
  • PubMed articles on dietary management of glucose-galactose malabsorption

• Research and scientific studies:

  • PubMed articles on genetic research into glucose-galactose malabsorption
  • ClinicalTrials.gov Identifier: NCT00004324

• Other resources and information:

  • [Support group or advocacy organization]
  • OMIM: 606824
  • PubMed