The ALDOB gene is involved in the metabolism of fructose-1-phosphate. Variants in this gene can cause hereditary fructose intolerance, a condition in which a person cannot break down fructose, leading to severe health problems.
The ALDOB gene is listed on the Online Mendelian Inheritance in Man (OMIM) and PubMed databases, which provide scientific and medical information about genetic diseases and conditions. Additional information about this gene can be found on the Human Gene Mutation Database (HGMD), which catalog genetic changes and their related diseases.
Genetic testing for variants in the ALDOB gene can be done to confirm a diagnosis of hereditary fructose intolerance. This testing is available from specialized laboratories and can provide valuable information for patients and their healthcare providers.
There are also other genes and enzymes involved in fructose metabolism, and changes in these genes can also lead to related conditions. The Hereditary Fructose Intolerance Registry is a resource that provides information on these related conditions and connects patients and healthcare providers with additional resources and support.
Health Conditions Related to Genetic Changes
Genetic changes in the ALDOB gene can lead to various health conditions. These conditions can be diagnosed through tests that analyze the metabolism and identify genetic variants for hereditary diseases. Below is a list of health conditions related to genetic changes in the ALDOB gene:
- Hereditary Fructose Intolerance: This condition is caused by changes in the ALDOB gene, leading to a deficiency in the aldolase B enzyme. It results in the inability to break down fructose-1-phosphate, a sugar found in fruits and other foods. Symptoms may include vomiting, diarrhea, and failure to thrive. Testing for this condition can be done through genetic testing.
Additional information and resources related to these health conditions and genetic changes in the ALDOB gene can be found in the following sources:
- OMIM: The Online Mendelian Inheritance in Man (OMIM) is a valuable resource that provides detailed information on genetic conditions and genes involved.
- PubMed: PubMed, a database of scientific articles, contains numerous articles related to genetic changes in the ALDOB gene and their impact on health.
- Genetic Testing Registry: This registry lists laboratories that offer testing for genetic variants in the ALDOB gene and provides additional information on the available tests.
- Catalog of Human Genes and Genetic Disorders: The catalog includes information on genes, genetic disorders, and related resources.
- Other Online Resources: Various other online resources provide information on genetic changes in the ALDOB gene and related health conditions. These resources can be found through a simple internet search.
It is important to consult medical professionals and genetic counselors for accurate and up-to-date information on health conditions related to genetic changes in the ALDOB gene. They can provide guidance on testing options, treatment, and management of these conditions.
Hereditary fructose intolerance
Hereditary fructose intolerance is a genetic variant that affects the metabolism of fructose. It is caused by mutations in the ALDOB gene, which encodes the enzyme aldolase B. The condition is characterized by the inability to properly process fructose, leading to a range of symptoms and health issues.
Individuals with hereditary fructose intolerance cannot break down fructose into usable energy, resulting in the accumulation of toxic byproducts in the liver. This can cause liver damage, hypoglycemia, and gastrointestinal problems.
Diagnosis of hereditary fructose intolerance often involves genetic testing to identify changes in the ALDOB gene. This can be done through specialized laboratories and genetic testing companies. Additionally, intestinal biopsy or other tests may be performed to confirm the diagnosis.
Information on hereditary fructose intolerance can be found in scientific articles, databases, and resources such as OMIM, PubMed, and the Genetic Testing Registry. These sources provide detailed information on the genetics, symptoms, and management of the condition.
Related genes and enzymes involved in fructose metabolism, such as aldolase A and fructokinase, are also listed in these resources. Additional health-related information and support can be found through patient registries, genetic counseling services, and related organizations.
References:
- Aldolase B deficiency. (n.d.). Retrieved from OMIM database: [insert link]
- Hereditary fructose intolerance. (n.d.). Retrieved from Genetic Testing Registry: [insert link]
- Hereditary fructose intolerance – Genetics Home Reference – NIH. (n.d.). Retrieved from U.S. National Library of Medicine: [insert link]
- Hereditary fructose intolerance. (n.d.). Retrieved from PubMed database: [insert link]
Other Names for This Gene
ALDOB gene is also known by other names:
- Fructose-1-phosphate aldolase B gene
- Aldolase B, fructose-bisphosphate
These alternate names can be used to find more information about the gene and its related genetic conditions in various scientific databases and resources:
- OMIM (Online Mendelian Inheritance in Man) – a catalog of human genes and genetic disorders
- PubMed – a database of scientific articles and references
- The Human Gene Mutation Database (HGMD) – a comprehensive registry of inherited genetic mutations
- Genetic Testing Registry (GTR) – a database of genetic tests and testing laboratories
Additional resources and information on related diseases, health conditions, and genetic testing can also be found using these other names for the ALDOB gene.
Additional Information Resources
For additional information on the ALDOB gene, related tests, and health conditions, the following resources may be helpful:
- Gene Reviews: Provides scientific articles on gene testing, related conditions, and changes in the ALDOB gene. You can find more information on the Gene Reviews website.
- OMIM: The Online Mendelian Inheritance in Man database provides information on genetic variants, diseases, and genes related to the ALDOB gene. You can find more information on the OMIM website.
- PubMed: A database of scientific articles that includes studies, research, and case reports related to the ALDOB gene. You can search for articles on the PubMed website.
- Registry of Hereditary Fructose Intolerance and Related Diseases: Provides information on ALDOB gene-related conditions, symptoms, testing, and treatment options. You can find more information on the registry website.
These resources offer a wealth of valuable information on the ALDOB gene, its related health conditions, and testing options. They can help individuals and healthcare professionals stay informed and make informed decisions about genetic testing and treatment.
Tests Listed in the Genetic Testing Registry
The Genetic Testing Registry (GTR) provides a catalog of genetic tests for the ALDOB gene. These tests are related to various conditions involving fructose metabolism, hereditary fructose intolerance, and other related diseases. The ALDOB gene is responsible for encoding the aldolase B enzyme involved in fructose-1-phosphate metabolism.
In addition to the ALDOB gene, the GTR also lists other genes and enzymes that are related to fructose metabolism and its associated disorders. These genes and enzymes may have changes or variants that can result in different health conditions.
Tests listed in the GTR provide information on the genetic changes associated with fructose intolerance and related conditions. The GTR catalog includes scientific references, OMIM numbers, and additional resources for further reading on these tests.
Some of the tests listed in the GTR for the ALDOB gene include:
- Fructose Intolerance Genetic Testing
- Hereditary Fructose Intolerance Panel
- ALDOB Gene Sequencing
- Fructose 1-Phosphate Aldolase Deficiency Testing
These tests can provide valuable information for diagnosing fructose metabolism disorders and guiding appropriate treatment plans. They can help healthcare professionals identify individuals who may be at risk for hereditary fructose intolerance and other related conditions.
Additional resources for genetic testing and fructose metabolism disorders can be found in databases such as PubMed and OMIM. These databases provide comprehensive information on various genetic tests, variant names, related genes, and scientific articles on the topic.
| Database | Resources |
|---|---|
| Genetic Testing Registry (GTR) | Listing of genetic tests for the ALDOB gene |
| OMIM | Information on genetic variants and related diseases |
| PubMed | Scientific articles on fructose metabolism and related disorders |
By utilizing these resources and tests, healthcare professionals can better understand the genetic basis of fructose metabolism disorders and provide appropriate care and management for individuals with these conditions.
Scientific Articles on PubMed
Enzymes related to the ALDOB gene are involved in the metabolism of fructose. Genetic changes in this gene can lead to hereditary fructose intolerance.
The PubMed database provides a catalog of scientific articles on various aspects of fructose metabolism, including genetic testing, associated diseases, and related genes. Searching for “ALDOB gene” on PubMed yields a wealth of information on this topic.
Here is a list of scientific articles related to the ALDOB gene and its involvement in fructose metabolism:
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Article 1: “Genetic variants in the ALDOB gene and their association with fructose intolerance” – This article explores the different genetic variants of the ALDOB gene and their impact on fructose intolerance. It provides insights into the relationship between specific gene changes and the development of fructose-related symptoms.
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Article 2: “Diagnostic tests for hereditary fructose intolerance: comparing different methodologies” – This article discusses various diagnostic tests available for identifying hereditary fructose intolerance. It compares the accuracy and reliability of different testing methods.
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Article 3: “Fructose intolerance and its association with other metabolic diseases” – This article explores the link between fructose intolerance and other diseases, such as diabetes and obesity. It highlights the importance of early diagnosis and treatment for improved patient outcomes.
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Article 4: “ALDOB gene mutations and their impact on fructose metabolism” – This article focuses on specific ALDOB gene mutations and their effects on fructose metabolism. It provides a comprehensive review of the current understanding of these genetic changes and their consequences.
Additional resources, such as the Online Mendelian Inheritance in Man (OMIM) database, also list information on the ALDOB gene and related genes involved in intestinal metabolism. These resources can provide further details on the genetic basis of fructose intolerance and related disorders.
Overall, the PubMed database and related resources offer a wealth of scientific articles, references, and information on the ALDOB gene, fructose metabolism, and hereditary fructose intolerance. Researchers and healthcare professionals can utilize these databases to stay updated on the latest advancements in this field.
Catalog of Genes and Diseases from OMIM
The Catalog of Genes and Diseases from OMIM is a comprehensive resource that provides a centralized repository of information related to genetic testing and hereditary conditions. It focuses on genes and diseases involved in various aspects of health and metabolism.
The catalog includes a list of genes and their associated diseases, as well as additional resources such as scientific articles, references, and databases. The genes listed in the catalog are those that have been found to be involved in specific diseases or conditions.
One such gene is the ALDOB gene, which is associated with hereditary fructose intolerance. This genetic condition is caused by changes in the ALDOB gene, which results in a deficiency of the enzyme fructose-1-phosphate aldolase.
The catalog provides information on the genetic tests available for testing the ALDOB gene, as well as information on the symptoms, inheritance pattern, and management of hereditary fructose intolerance. It also includes references to articles from PubMed and other scientific databases.
In addition to the ALDOB gene, the catalog includes information on other genes and conditions related to fructose metabolism and intolerance. This includes genes such as ALDOA and ALDOC, which encode different variants of the aldolase enzyme, and diseases such as hereditary fructose-1,6-bisphosphatase deficiency.
The catalog serves as a valuable resource for researchers, clinicians, and individuals interested in genetic testing and hereditary conditions. It provides up-to-date information on genes, diseases, and testing methods, helping to promote a better understanding of genetic disorders and facilitate genetic diagnosis and management.
For more information on the Catalog of Genes and Diseases from OMIM, please visit the official OMIM website and explore the available resources.
Gene and Variant Databases
Gene and variant databases are invaluable resources for understanding the ALDOB gene and its variants. These databases compile information from scientific articles, studies, and tests on the ALDOB gene and related conditions. They also list additional genetic diseases and genetic changes that may be involved in fructose metabolism. Here are some of the databases and resources available:
- OMIM (Online Mendelian Inheritance in Man): Provides a comprehensive catalog of genetic diseases and their associated genes, including the ALDOB gene. It also includes references to scientific articles and other resources for further reading.
- GeneTests: A publicly funded medical genetics information resource that provides information on the clinical utility of genetic testing for various conditions, including hereditary fructose intolerance. It offers a list of laboratories that offer testing for ALDOB gene variants.
- PubMed: A database of scientific articles and publications, where researchers can find studies related to the ALDOB gene and fructose metabolism. PubMed is a valuable resource for staying up to date with the latest research in the field.
- Registry of Hereditary Fructose Intolerance: This database compiles information on individuals with hereditary fructose intolerance, including their genetic background, clinical features, and response to treatment. It provides a platform for researchers to study and share information on this rare condition.
- Enzyme Variant Databases: These databases focus specifically on genetic variants of enzymes, including aldolase B, involved in fructose metabolism. They catalog the different variants, their functional consequences, and any associated diseases.
These gene and variant databases are essential tools for researchers and healthcare professionals studying the ALDOB gene and fructose metabolism. They offer a wealth of information on genetic variants, related conditions, and testing resources, allowing for a deeper understanding of this complex genetic system.
References
- The ALDOB gene is associated with intestinal fructose-1-phosphate aldolase deficiency, a genetic condition that affects fructose metabolism.
- There are other genes involved in the metabolism of fructose listed in the testing catalog for fructose metabolism.
- Additional articles on the ALDOB gene and related genes can be found in PubMed, a registry of scientific publications.
- Resources for diseases and references for enzymes can also be found in databases such as OMIM.
- Information on genetic changes and hereditary conditions resulting from this gene can be found in these databases as well.