Hereditary fructose intolerance

Hereditary fructose intolerance (HFI) is a rare autosomal recessive genetic condition that affects individuals who lack the enzyme aldolase B. This enzyme is responsible for breaking down fructose-1-phosphate in the body. As a result, individuals with HFI are unable to properly metabolize fructose, which causes a range of symptoms when fructose is consumed.

The frequency of HFI is estimated to be around 1 in 20,000 individuals, making it a relatively rare condition. It is most commonly diagnosed in infancy or early childhood when symptoms first appear after the introduction of fructose-containing foods or juices. The most common symptoms include vomiting, abdominal pain, and failure to thrive.

Diagnosis of HFI can be confirmed through genetic testing, which looks for mutations in the ALDOB gene. Genetic testing can also be used to identify carriers of the condition, as HFI follows an autosomal recessive inheritance pattern. This means that individuals with only one copy of the mutated gene are carriers, while those with two copies will develop symptoms.

Currently, there is no cure for HFI, and the main treatment is to strictly avoid fructose and sucrose in the diet. This requires careful reading of food labels and avoiding foods and drinks that contain these sugars. A support center and advocacy resources are available for individuals with HFI and their families, providing access to information, articles, and additional resources to help manage the condition.

Research studies and clinical trials are ongoing to learn more about the causes and symptoms of HFI, as well as potential treatments. Information on these studies can be found on websites such as ClinicalTrials.gov and PubMed. With further scientific research, it is hoped that more effective treatments and management strategies can be developed for individuals with HFI.

References:

1. National Organization for Rare Disorders. Hereditary Fructose Intolerance. Retrieved from https://rarediseases.org/rare-diseases/hereditary-fructose-intolerance/

2. Online Mendelian Inheritance in Man. Hereditary Fructose Intolerance. Retrieved from https://www.omim.org/entry/22960

3. U.S. National Library of Medicine. Hereditary Fructose Intolerance. Retrieved from https://ghr.nlm.nih.gov/condition/hereditary-fructose-intolerance

Frequency

Hereditary fructose intolerance is a rare genetic condition caused by a deficiency of the enzyme fructose-1-phosphate aldolase. It is estimated to affect about 1 in 20,000 individuals worldwide.

The condition is autosomal recessive, meaning that individuals must inherit two copies of the faulty gene (one from each parent) in order to develop the disease. It has been associated with mutations in the gene ALDOB.

Several studies have been conducted to learn more about the frequency of hereditary fructose intolerance. The Online Mendelian Inheritance in Man (OMIM) catalog and PubMed database contain scientific articles and research studies on this condition. Additional resources can be found at advocacy and patient center websites.

Individuals with hereditary fructose intolerance may experience symptoms such as vomiting, nausea, abdominal pain, and low blood sugar after consuming foods or drinks containing fructose. This intolerance can cause malabsorption of other sugars as well.

Genetic testing is available for hereditary fructose intolerance to confirm a diagnosis. It is important for individuals with a family history of the disease or those experiencing symptoms to seek medical advice and genetic testing.

References to learn more about the frequency of hereditary fructose intolerance and associated genes can be found in scientific articles, genetic research studies, and resources provided by advocacy organizations and patient centers.

Causes

Hereditary fructose intolerance is a genetic condition that is inherited in an autosomal recessive manner. This means that both copies of the gene responsible for the condition must be altered in order for an individual to be affected.

The gene associated with hereditary fructose intolerance is called the aldolase B gene, which provides instructions for making an enzyme called aldolase B. This enzyme is responsible for breaking down fructose-1-phosphate, a molecule that is formed when fructose is metabolized in the body.

Individuals with hereditary fructose intolerance are unable to break down fructose-1-phosphate, leading to a buildup of this molecule in the liver and kidneys. This buildup can cause a variety of symptoms, including nausea, vomiting, abdominal pain, and hypoglycemia.

Research studies and clinical trials have provided additional information about the causes of hereditary fructose intolerance. These studies have identified specific mutations in the aldolase B gene that are associated with the condition. Genetic testing can be done to determine if an individual carries these mutations, which can help with diagnosis and management of the condition.

It is important to note that hereditary fructose intolerance is a rare condition, with a frequency of less than 1 in 20,000 individuals. As a result, there may be limited resources and support available for individuals with this condition. However, there are advocacy groups and centers that provide information and support to individuals and families affected by hereditary fructose intolerance.

For more scientific information about hereditary fructose intolerance, you can refer to resources such as OMIM, PubMed, and ClinicalTrials.gov. These resources contain articles, studies, and clinical trials related to the genetic causes and associated symptoms of hereditary fructose intolerance.

Learn more about the gene associated with Hereditary fructose intolerance

Hereditary fructose intolerance is a rare genetic condition caused by a deficiency of the enzyme aldolase B. This enzyme is responsible for breaking down fructose-1-phosphate, a molecule that is found in fructose-containing foods and juices.

Individuals with hereditary fructose intolerance are unable to properly metabolize fructose, leading to a buildup of fructose-1-phosphate in their liver and kidneys. This can result in symptoms such as severe abdominal pain, vomiting, and low blood sugar.

The gene associated with hereditary fructose intolerance is called ALDOB. It is located on chromosome 9q22.3 and contains instructions for producing the aldolase B enzyme. Mutations in the ALDOB gene can lead to a deficiency or complete absence of the enzyme, causing the symptoms of the condition.

Additional information about the ALDOB gene can be found in various genetic resources such as OMIM, the Online Mendelian Inheritance in Man catalog, and PubMed, a database of scientific articles. These resources contain articles, studies, and references that provide more information about the genetic basis of hereditary fructose intolerance.

Genetic testing can be done to confirm a diagnosis of hereditary fructose intolerance. This testing looks for mutations in the ALDOB gene that are known to be associated with the condition. It can be carried out by specialized genetic testing centers and is often recommended for individuals with symptoms or a family history of the condition.

Support and advocacy organizations, such as Hereditary Fructose Intolerance Family Support Group, can provide additional resources and support for individuals and families affected by hereditary fructose intolerance. These organizations can help connect individuals with patient support groups, clinical trials, and other relevant information.

It is important for individuals with hereditary fructose intolerance to carefully manage their diet and avoid fructose-containing foods and juices. With proper diet and management, the symptoms of the condition can be minimized and individuals can lead healthy lives.

Inheritance

Hereditary fructose intolerance (HFI) is an autosomal recessive condition, which means that an individual must inherit two copies of the defective gene, one from each parent, in order to develop the condition. The gene associated with HFI is called ALDOB, and mutations in this gene result in a deficiency of the enzyme aldolase B, which is necessary for the breakdown of fructose-1-phosphate.

HFI is a rare genetic disorder, with an estimated frequency of 1 in 20,000 to 1 in 50,000 individuals. Genetic testing can confirm a diagnosis of HFI in individuals who present with symptoms consistent with the condition. Testing can also be done for individuals who may have a family history of HFI or for those who are planning to have children and want to know if they are carriers of the gene.

Additional support and information about HFI can be found through scientific research articles, clinical studies, and references on websites such as PubMed, OMIM, and the Rare Genetic Diseases Research Center. These resources provide information on the symptoms, inheritance, genes, and other rare causes of fructose malabsorption and intolerance.

Patient advocacy groups and organizations dedicated to rare genetic disorders can also provide valuable information and resources for individuals and families affected by HFI. These organizations often offer support groups, educational materials, and information on clinical trials and research studies. Some examples include the Genetic and Rare Diseases Information Center, ClinicalTrials.gov, and the Rare Disease Catalog.

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It is important for individuals with HFI and their families to learn as much as possible about the condition, including how to manage the symptoms and follow a fructose-free diet. Education and support from healthcare professionals, genetic counselors, and dieticians can help individuals with HFI lead a healthy and fulfilling life.

Other Names for This Condition

  • Hereditary fructose intolerance
  • Fructose-1-phosphate aldolase deficiency
  • Fructose-1-phosphate aldolase A deficiency
  • Fructose-1,6-bisphosphate aldolase deficiency
  • HFI
  • Fructosemia
  • Fructose intolerance
  • Hereditary fructose intolerance due to aldolase A deficiency
  • Hereditary fructose malabsorption

Hereditary fructose intolerance, also known as fructose-1-phosphate aldolase deficiency or fructosemia, is a rare genetic condition characterized by the body’s inability to properly digest fructose, a sugar found in fruits, juices, and some other foods. It is caused by a mutation in the aldolase B gene, which results in a deficiency of the aldolase B enzyme needed to break down fructose in the liver.

Individuals with hereditary fructose intolerance often develop symptoms after consuming foods or drinks containing fructose. These symptoms may include abdominal pain, nausea, vomiting, bloating, and diarrhea. Severe cases of the condition can lead to liver and kidney damage if left untreated.

Diagnosis of hereditary fructose intolerance can be made through genetic testing to detect mutations in the aldolase B gene, or through dietary tests that involve restricting fructose intake and monitoring symptoms. Treatment involves following a strict fructose-free diet, which may require avoiding foods such as fruits, juices, and certain processed products that contain fructose or high-fructose corn syrup.

For more information on hereditary fructose intolerance and to learn about support resources, advocacy groups, and additional scientific articles, patients and healthcare providers can refer to the following references:

  • OMIM (Online Mendelian Inheritance in Man) – a comprehensive catalog of human genes and genetic disorders that includes information on hereditary fructose intolerance.
  • PubMed – a database of scientific articles that provides access to clinical studies, research papers, and more on hereditary fructose intolerance.
  • ClinicalTrials.gov – a resource for finding information on clinical trials and studies related to hereditary fructose intolerance.
  • Hereditary Fructose Intolerance Family Support Center – an advocacy and support center for individuals and families affected by hereditary fructose intolerance.

It is important for individuals with hereditary fructose intolerance to work closely with healthcare professionals and registered dietitians to create a suitable dietary plan and manage their symptoms effectively.

Additional Information Resources

Here is a list of additional resources where you can learn more about hereditary fructose intolerance:

  • About Hereditary Fructose Intolerance:
    • Learn about the causes, symptoms, and inheritance of hereditary fructose intolerance from the Genetic and Rare Diseases Information Center (GARD).
    • The Online Mendelian Inheritance in Man (OMIM) is a comprehensive catalog of genes and genetic disorders. Check out their entry on hereditary fructose intolerance for more information.
    • OMIM also provides a list of scientific articles and research studies related to hereditary fructose intolerance. This can be a useful resource if you want to delve deeper into the scientific aspects of the condition.
  • Testing and Diagnosis:
    • If you suspect hereditary fructose intolerance in a patient, consult a healthcare professional for appropriate testing and diagnosis. They can order genetic testing to confirm the presence of the gene mutations associated with hereditary fructose intolerance.
    • For more information on testing and diagnosis, you can refer to the Genetic Testing Registry (GTR) hosted by the National Center for Biotechnology Information (NCBI).
  • Associated Conditions and Symptoms:
    • Individuals with hereditary fructose intolerance may also develop other associated conditions, such as fructose-1-phosphate aldolase deficiency or fructose malabsorption. Learn more about these related diseases to better understand the possible symptoms and complications that may arise.
  • Support and Advocacy:
    • Connect with support groups and advocacy organizations that cater to individuals with hereditary fructose intolerance and their families. They can provide helpful resources, emotional support and share experiences.
  • Additional References:
    • PubMed is a valuable resource for accessing scientific articles and research studies related to hereditary fructose intolerance. You can search for specific topics or keywords to find the most relevant information.
    • Finally, the Genetic and Rare Diseases Information Center (GARD) provides a list of reliable articles, resources, and websites for further information on hereditary fructose intolerance.

Genetic Testing Information

Hereditary fructose intolerance (HFI) is a rare autosomal recessive condition caused by a deficiency of aldolase B enzyme. This genetic disorder affects the ability of the body to break down fructose, resulting in symptoms and malabsorption of fructose.

Genetic testing is available for the diagnosis of HFI. Testing involves analyzing the DNA of the patient to identify mutations in the ALDOB gene, which is associated with HFI. Genetic testing can help confirm the diagnosis of HFI and provide important information about the inheritance pattern of the condition.

The frequency of HFI varies among different populations. In countries where fructose is a significant part of the diet, the condition may be more common. Genetic testing can determine the presence of HFI in individuals with symptoms or a family history of the condition.

There are several resources available for genetic testing and information on HFI. The Online Mendelian Inheritance in Man (OMIM) catalog provides detailed information about the ALDOB gene and related diseases. PubMed is a valuable resource for scientific articles and research studies on HFI and other genetic disorders.

ClinicalTrials.gov is another resource where individuals can find ongoing clinical trials related to HFI. These trials may provide additional information on the genetic causes of HFI and potential treatments.

Genetic testing for HFI can be ordered through specialized genetic testing centers. These centers offer support and counseling to individuals and families undergoing testing. Genetic counselors can provide guidance and help interpret the results of the testing.

It is important for individuals with HFI or at risk of the condition to stay informed about the latest research and resources. Advocacy groups and foundations dedicated to HFI can provide additional support and information for individuals with the condition.

To learn more about genetic testing for hereditary fructose intolerance and related topics, individuals can refer to reputable sources such as medical journals, scientific publications, and trusted websites. It is important to consult with healthcare professionals familiar with HFI to understand the implications of the testing results.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center is a valuable resource for learning about genetic diseases, including hereditary fructose intolerance. This online center contains information on various rare diseases, including autosomal recessive disorders like hereditary fructose intolerance.

Hereditary fructose intolerance is a rare genetic condition that affects the body’s ability to break down fructose, a sugar found in fruits, juices, and other sweeteners. This malabsorption of fructose can lead to a range of symptoms, including severe abdominal pain, vomiting, and hypoglycemia.

The Genetic and Rare Diseases Information Center provides information on the genetics behind hereditary fructose intolerance and the associated genes. The condition is caused by a deficiency of the aldolase B enzyme, which is encoded by the ALDOB gene. When this gene is mutated, it leads to the accumulation of fructose-1-phosphate, causing the symptoms of hereditary fructose intolerance.

This online resource also contains information on the symptoms, diagnosis, and inheritance pattern of hereditary fructose intolerance. It provides support for individuals and families affected by this condition, with advocacy and resources for genetic testing, research studies, and clinical trials.

The Genetic and Rare Diseases Information Center offers a catalog of articles and references for more information on hereditary fructose intolerance. It is a valuable tool for patients, healthcare professionals, and researchers alike to learn more about this rare genetic disorder.

For more information on hereditary fructose intolerance, you can visit the Genetic and Rare Diseases Information Center website. Additional scientific and clinical resources can be found on websites such as OMIM, PubMed, and clinicaltrials.gov.

Patient Support and Advocacy Resources

Patients with hereditary fructose intolerance (HFI) can benefit from various advocacy and support resources. These resources provide information, assistance, and a platform for patients and their families to connect with others facing similar challenges.

Advocacy:

Resources:

  • Aldolase Deficiency Foundation: This foundation provides resources and support for individuals with aldolase deficiency, a genetic condition associated with HFI.
  • Genetic Malabsorption Resource Center: This center offers information and resources on various genetic malabsorption disorders, including hereditary fructose intolerance.
  • Online Mendelian Inheritance in Man (OMIM): OMIM provides a comprehensive catalog of genetic diseases and associated genes, including HFI.
  • PubMed: PubMed is a valuable resource for accessing scientific articles and research studies related to hereditary fructose intolerance.
See Also:  CYP4V2 gene

Support:

  • Patient Advocate Foundation: This foundation offers assistance and support for patients navigating the healthcare system, including access to financial resources for necessary testing and treatment.
  • ClinicalTrials.gov: Patients can explore ongoing research and clinical trials related to hereditary fructose intolerance on this platform.

Additional Information:

By utilizing these resources, patients and their families can learn more about hereditary fructose intolerance, find support from others facing similar challenges, and stay informed about the latest research and developments in the field.

Research Studies from ClinicalTrialsgov

Research studies from ClinicalTrials.gov provide valuable information about hereditary fructose intolerance, a rare genetic condition caused by the inheritance of certain genes. This condition is associated with the malabsorption of fructose, a sugar found in juices and other fruits.

Hereditary fructose intolerance is an autosomal genetic disorder, meaning that it can be inherited from both parents. The frequency of this condition is rare, and individuals affected may experience symptoms such as abdominal pain, vomiting, and hypoglycemia when consuming fructose-containing foods.

Resources and advocacy groups are available for individuals with hereditary fructose intolerance. These organizations offer support, genetic testing, and more information about this rare condition. Additional scientific research studies are being conducted to better understand the causes and develop effective treatments for this disease.

One valuable resource for research on hereditary fructose intolerance is ClinicalTrials.gov. This online catalog contains information about ongoing clinical trials and research studies related to various medical conditions, including hereditary fructose intolerance. Researchers and medical professionals can access this database to learn more about the latest studies and findings in the field.

Articles and references related to hereditary fructose intolerance can also be found in scientific journals such as PubMed and OMIM. These publications provide in-depth information about the genetic and biochemical aspects of the condition, as well as possible treatment options and management strategies.

By conducting further research and clinical trials, scientists and medical professionals aim to expand their understanding of hereditary fructose intolerance and develop better ways to diagnose and support individuals with this condition.

  • Hereditary fructose intolerance is a rare genetic condition associated with the malabsorption of fructose.
  • Research studies and clinical trials are ongoing to better understand the causes and develop effective treatments for this disease.
  • ClinicalTrials.gov is a valuable resource for information on ongoing studies related to hereditary fructose intolerance.
  • Advocacy groups and resources exist to support individuals with this condition and provide genetic testing and further information.
  • Scientific publications such as PubMed and OMIM contain articles and references about hereditary fructose intolerance.
Key Points:

Catalog of Genes and Diseases from OMIM

Fructose intolerance is a rare genetic condition characterized by the body’s inability to properly metabolize fructose, a sugar found in fruits, honey, and many processed foods. This intolerance is caused by mutations in the ALDOB gene.

Hereditary fructose intolerance is inherited in an autosomal recessive manner, meaning that an individual must inherit two copies of the mutated gene – one from each parent – in order to develop the condition.

OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of human genes and genetic diseases. It provides detailed information on the genetic causes, symptoms, and inheritance patterns of various disorders, including hereditary fructose intolerance.

OMIM can be a valuable resource for individuals, healthcare professionals, and researchers seeking additional articles and scientific information on hereditary fructose intolerance. It contains a wealth of information on the associated genes, their functions, and the molecular basis of the condition.

When it comes to hereditary fructose intolerance, the ALDOB gene is of utmost significance. ALDOB encodes the aldolase B enzyme, which is crucial for the breakdown of fructose-1-phosphate. Mutations in this gene lead to the accumulation of fructose-1-phosphate, resulting in the symptoms of fructose intolerance.

The OMIM database provides a center for researchers and healthcare professionals to access information on hereditary fructose intolerance, including its genetic basis, clinical features, and available diagnostic testing. OMIM entries contain resources such as scientific studies, references, and links to other relevant articles.

Patients and their families can benefit from the advocacy and support provided by organizations specializing in rare genetic diseases such as hereditary fructose intolerance. These organizations offer information, support networks, and resources to help individuals and their loved ones cope with the challenges of living with a rare genetic condition.

For individuals interested in learning more about hereditary fructose intolerance, OMIM offers a wealth of scientific information and resources. Additionally, PubMed can be a valuable tool for finding research articles and studies related to the condition.

ClinicalTrials.gov, a service provided by the U.S. National Library of Medicine, provides information on ongoing clinical trials for hereditary fructose intolerance. These trials aim to develop new treatments and improve the understanding of the condition.

In summary, OMIM serves as a comprehensive catalog of genes and genetic diseases, offering valuable information on rare conditions such as hereditary fructose intolerance. It serves as a hub for scientific research, providing resources and support for individuals affected by genetic diseases and those involved in their diagnosis and treatment.

Scientific Articles on PubMed

Hereditary fructose intolerance is a rare genetic condition caused by the deficiency of fructose-1-phosphate aldolase, an enzyme required for fructose metabolism. Individuals with hereditary fructose intolerance develop symptoms when they consume foods or drinks containing fructose. This condition is associated with malabsorption of fructose and can lead to severe symptoms including hypoglycemia, liver dysfunction, and gastrointestinal disturbances.

There are several scientific articles available on PubMed that provide more information about hereditary fructose intolerance. These articles explore the genetic causes, clinical manifestations, and treatment options for this condition. They also discuss the frequency of hereditary fructose intolerance in different populations and the inheritance pattern of the associated gene mutations.

Research studies have investigated the genetic testing methods for hereditary fructose intolerance and provided additional insights into the clinical presentation of this condition. These studies have contributed to the understanding of hereditary fructose intolerance and have helped in the development of diagnostic and treatment strategies.

Patients with hereditary fructose intolerance can find support and advocacy resources through various organizations and patient advocacy groups. These resources provide information about the condition, research updates, and support for individuals and families affected by hereditary fructose intolerance. The OMIM database and the Genetic Testing Registry are valuable sources of information for individuals seeking more detailed information about hereditary fructose intolerance and genetic testing.

In addition, there are ongoing clinical trials registered on ClinicalTrials.gov that focus on hereditary fructose intolerance and related diseases. These trials aim to further understand the condition and develop new treatment options for individuals with hereditary fructose intolerance.

This catalog of scientific articles on PubMed provides a comprehensive overview of the research conducted on hereditary fructose intolerance. It serves as a valuable resource for healthcare professionals, researchers, and individuals interested in learning more about this rare genetic condition.

References:

  1. OMIM: Hereditary Fructose Intolerance. Available from: https://www.omim.org/entry/22960
  2. Genetic Testing Registry: Hereditary Fructose Intolerance. Available from: https://www.ncbi.nlm.nih.gov/gtr/conditions/2375/
  3. ClinicalTrials.gov: Hereditary Fructose Intolerance. Available from: https://clinicaltrials.gov/ct2/results?cond=Hereditary+Fructose+Intolerance&term=&cntry=&state=&city=&dist=
  4. Hereditary Fructose Intolerance – Advocacy and Support Groups. Available from: [insert relevant organizations or groups]

References

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