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Abetalipoproteinemia is a rare genetic condition that is characterized by a deficiency in a protein called apolipoprotein B. This protein is responsible for the production and transport of lipoproteins, which are molecules that carry fats and fat-soluble vitamins in the blood. Without apolipoprotein B, individuals with abetalipoproteinemia are unable to properly absorb and transport fats, leading to a variety of symptoms.

Abetalipoproteinemia is caused by mutations in the genes that produce apolipoprotein B, and it follows an autosomal recessive pattern of inheritance. This means that both copies of the gene must be mutated in order for the condition to develop. Symptoms of abetalipoproteinemia usually appear in infancy or early childhood and can include poor weight gain, failure to thrive, diarrhea, and muscle weakness. Without proper diagnosis and treatment, abetalipoproteinemia can lead to severe malnutrition and neurological complications.

Diagnosis of abetalipoproteinemia involves a combination of clinical evaluation, genetic testing, and specialized laboratory testing. Treatment for abetalipoproteinemia focuses on managing symptoms and preventing complications by following a specialized diet that is low in fat and high in fat-soluble vitamins. Ongoing monitoring and support from healthcare professionals is important for individuals with abetalipoproteinemia.

Currently, there is ongoing research and advocacy for abetalipoproteinemia. Clinical trials and studies are being conducted to learn more about the condition, its causes, and potential treatment options. Resources and support for patients and their families can be found through organizations such as OMIM and advocacy groups. Additional information about abetalipoproteinemia can also be found in scientific articles and references from reputable sources such as PubMed and clinicaltrials.gov.

In conclusion, abetalipoproteinemia is a rare genetic condition that affects the body’s ability to absorb and transport fats. It is characterized by a deficiency in apolipoprotein B and can lead to a variety of symptoms and complications. Ongoing research and advocacy efforts are aimed at improving diagnosis, treatment, and support for individuals with abetalipoproteinemia.

Frequency

Abetalipoproteinemia is a rare genetic disorder characterized by the abnormally low levels or absence of beta-lipoproteins in the blood. According to available information, the syndrome affects approximately 1 in 100,000 to 1 in 1,000,000 people worldwide.

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Abetalipoproteinemia is a rare condition, and because of its rarity, awareness and resources for patients can sometimes be limited. There is currently no comprehensive epidemiological data on the frequency of this syndrome.

People with abetalipoproteinemia may experience a wide range of symptoms, including weakness, poor balance, difficulty coordinating movements, and visual disturbances. These symptoms may appear in childhood or later in life.

Inheritance of abetalipoproteinemia is autosomal recessive, which means that both copies of the gene associated with the condition must be altered in order to develop the syndrome. In most cases, individuals with abetalipoproteinemia inherit one altered gene from each parent.

People with abetalipoproteinemia may benefit from genetic testing to confirm the diagnosis. Testing can analyze the MTP gene, which is the gene associated with abetalipoproteinemia. Genetic testing can help identify carriers of the altered gene and provide important information for family planning.

For more information about abetalipoproteinemia, including the genetic causes, associated genes, and research studies, visit resources such as PubMed, OMIM, and ClinicalTrials.gov. These resources provide access to articles, references, and clinical trials related to this condition.

Scientific research and advocacy organizations such as the National Center for Advancing Translational Sciences (NCATS) and the Genetic and Rare Diseases Information Center (GARD) are also valuable sources of information and support for patients and their families.

In summary, abetalipoproteinemia is a rare genetic condition with a frequency estimated to affect approximately 1 in 100,000 to 1 in 1,000,000 people. Genetic testing and resources such as PubMed, OMIM, ClinicalTrials.gov, and research organizations can provide more information on this rare condition.

Causes

Abetalipoproteinemia is caused by mutations in the MTTP gene. MTTP provides instructions for making a protein called microsomal triglyceride transfer protein. This protein is responsible for packaging fats and cholesterol into particles called chylomicrons, which are then transported from the intestine to the rest of the body. When the MTTP gene is mutated, the protein is not produced correctly, leading to a deficiency of chylomicrons.

Abetalipoproteinemia follows an autosomal recessive pattern of inheritance. This means that an affected individual must inherit two copies of the mutated MTTP gene, one from each parent, in order to develop the condition. Individuals who carry one copy of the mutated gene are considered carriers and typically do not show any symptoms.

There are other rare genetic diseases that can cause symptoms similar to abetalipoproteinemia, such as familial hypobetalipoproteinemia and chylomicron retention disease. These conditions are also caused by mutations in genes involved in the production or transport of chylomicrons.

Additional information about the causes of abetalipoproteinemia can be found in scientific articles and genetic databases, such as OMIM. Genetic testing can confirm a diagnosis and help identify the specific gene mutations associated with the condition.

Learn more about the gene associated with Abetalipoproteinemia

Abetalipoproteinemia is a rare genetic disorder that affects the absorption of dietary fat and fat-soluble vitamins. It is caused by mutations in the microsomal triglyceride transfer protein (MTP) gene.

The MTP gene provides instructions for making a protein that is essential for the normal processing and packaging of fats and fat-soluble vitamins. Mutations in this gene result in a deficiency or dysfunction of the MTP protein, leading to the characteristic symptoms of abetalipoproteinemia.

Research studies have identified various mutations in the MTP gene in individuals with abetalipoproteinemia. These mutations are inherited in an autosomal recessive pattern, which means that both copies of the gene in each cell have mutations. Individuals with only one mutated copy of the gene are carriers of the condition but do not show any symptoms.

See also  SOX9 gene

There are several resources available for learning more about the MTP gene and its association with abetalipoproteinemia. The Online Mendelian Inheritance in Man (OMIM) database provides detailed information about the gene, including its function, associated diseases, and inheritance patterns.

PubMed, a scientific research database, is also a valuable resource for finding articles and studies related to the MTP gene and abetalipoproteinemia. Publications in scientific journals can provide additional information on the genetic causes, clinical symptoms, and management of this rare condition.

For individuals interested in participating in research or clinical trials related to abetalipoproteinemia, the ClinicalTrials.gov website offers an up-to-date list of ongoing studies. These studies may investigate potential treatments, disease progression, or other aspects of the condition.

In addition to scientific resources, there are also advocacy and patient support organizations that provide information and resources for individuals and families affected by abetalipoproteinemia. These organizations can offer support, educational materials, and connections to healthcare professionals knowledgeable about the condition.

In conclusion, the gene associated with abetalipoproteinemia is the microsomal triglyceride transfer protein (MTP) gene. Mutations in this gene lead to the deficiency or dysfunction of the MTP protein, causing the characteristic symptoms of the condition. Understanding the genetic basis of abetalipoproteinemia is essential for further research, development of testing methods, and potential treatment options.

Inheritance

Abetalipoproteinemia is a rare autosomal recessive disorder. This means that individuals with only one defective gene are carriers and do not exhibit symptoms of the condition. Both parents must be carriers of the abnormal gene to pass the condition on to their offspring.

Research has identified two genes associated with abetalipoproteinemia: MTTP and APOB. Mutations in these genes interfere with the normal function of the microsomal triglyceride transfer protein (MTP) and apolipoprotein B (apoB), respectively.

MTTP gene mutations account for the majority of cases of abetalipoproteinemia. These mutations prevent the production of functional MTP, which is responsible for transferring fats and fat-soluble vitamins into particles called chylomicrons. Without functional MTP, the body cannot properly absorb and transport dietary fats and fat-soluble vitamins, leading to the characteristic symptoms of the condition.

APOB gene mutations are less common but still lead to the development of abetalipoproteinemia. Mutations in the APOB gene result in the production of abnormal apoB proteins, which are essential components of chylomicrons and other lipoproteins. These abnormal apoB proteins are rapidly degraded, leading to a deficiency of chylomicrons and impaired fat absorption.

Due to the rarity of abetalipoproteinemia, comprehensive studies on the inheritance frequency and patterns are limited. However, many clinical reports and studies have been published in scientific literature, such as OMIM and PubMed, that provide more information about the genetics and inheritance of this condition.

Patients and families affected by abetalipoproteinemia can access additional resources and support through advocacy and support organizations that focus on rare diseases, such as the National Organization for Rare Disorders (NORD) and the Abetalipoproteinemia Information Center. These organizations provide information about genetic testing, clinical trials, and other resources for individuals with this and other related conditions.

Genetic testing is often recommended for individuals with suspected abetalipoproteinemia, as it can confirm the diagnosis and identify specific gene mutations. This information can be used for genetic counseling and family planning purposes.

References and Resources
1. OMIM (Online Mendelian Inheritance in Man) – Abetalipoproteinemia
2. PubMed – Abetalipoproteinemia
3. ClinicalTrials.gov – Studies for Abetalipoproteinemia
4. Hegele RA. Abetalipoproteinemia: an orphan disease that has found its gene. Arterioscler Thromb Vasc Biol. 2001;21(10):1603-1605. doi:10.1161/hq1001.098329

Other Names for This Condition

Abetalipoproteinemia is also known by other names:

  • Microsomal triglyceride transfer protein deficiency
  • Bassen-Kornzweig syndrome
  • Disorder of lipid metabolism with acanthocytosis

This rare genetic condition affects the function of the microsomal triglyceride transfer protein (MTTP) gene, leading to an abnormally low level of lipoproteins in the blood. It is inherited in an autosomal recessive pattern, meaning that both copies of the MTTP gene in each cell have mutations.

People with abetalipoproteinemia usually develop symptoms in infancy or early childhood, including poor absorption of dietary fats, leading to malnutrition and failure to thrive. Other symptoms can include muscle weakness, abnormal red blood cells (acanthocytes), and neurological abnormalities.

Abetalipoproteinemia is a rare condition, with a frequency estimated to be less than 1 in 1,000,000 people worldwide. It is caused by mutations in the MTTP gene, which provides instructions for making the microsomal triglyceride transfer protein. These mutations disrupt the normal function of the protein, impairing the production of lipoproteins that transport fats and fat-soluble vitamins in the body.

Diagnosis of abetalipoproteinemia can be confirmed through genetic testing, which can detect mutations in the MTTP gene. Other tests, such as blood tests and imaging studies, can also help evaluate the function of the liver and gastrointestinal system.

There is currently no cure for abetalipoproteinemia. Treatment involves managing symptoms and preventing complications. This can include a specialized diet low in fat and high in vitamins, as well as supplements to ensure adequate nutrition. Physical and occupational therapy may be recommended to help with muscle weakness and developmental delays.

Support and advocacy groups can provide additional resources and information about abetalipoproteinemia. These organizations may also fund research studies to further understand the condition and develop new treatments. For more information, visit the websites of the Bassen-Kornzweig Disease Foundation and the National Organization for Rare Disorders.

References:

  1. OMIM – Abetalipoproteinemia
  2. PubMed – Abetalipoproteinemia
  3. GeneReviews – MTTP-Related Abetalipoproteinemia
  4. PubMed – Microsomal Triglyceride Transfer Protein Deficiency
  5. ClinicalTrials.gov – Abetalipoproteinemia

Additional Information Resources

  • Patient Advocacy Resources:
    • Online Mendelian Inheritance in Man (OMIM) – OMIM is a comprehensive catalog of human genes and genetic disorders. It provides information about the inheritance, clinical features, and molecular function of genes. The OMIM entry for abetalipoproteinemia includes references to articles and studies on this rare genetic disorder.
    • PubMed – PubMed is a database of scientific articles. Searching for abetalipoproteinemia on PubMed can provide additional support and information about the clinical presentation, genetic causes, and management of the disease.
  • Clinical Trials and Research:
    • ClinicalTrials.gov – ClinicalTrials.gov is a registry of clinical trials for various diseases. Searching for abetalipoproteinemia on ClinicalTrials.gov may provide information about ongoing or upcoming studies related to the disease.
  • Genetic Testing and Development:
    • GeneCards – GeneCards is a database that provides information on genes, their functions, and associated diseases. It includes information about the various genes associated with abetalipoproteinemia.
    • OMIM – The Online Mendelian Inheritance in Man (OMIM) database provides detailed information about various genetic disorders, including abetalipoproteinemia. It includes information about the clinical features, inheritance patterns, and associated genes.
  • Scientific References:
    • PubMed – PubMed is a valuable resource for finding scientific articles and research papers related to abetalipoproteinemia. It can provide more information about the disease’s symptoms, genetic causes, and treatment options.
  • Learn More:
    • Abetalipoproteinemia Information Center – The Abetalipoproteinemia Information Center is a comprehensive resource for information about abetalipoproteinemia. It includes information about the frequency of the disease, associated symptoms, and available treatment options.
    • NCBI Gene – The NCBI Gene database provides information on genes, their functions, and associated diseases. Searching for abetalipoproteinemia on NCBI Gene can provide scientific information about the genes involved in the development of this disorder.
See also  Gaucher disease

Genetic Testing Information

Genetic testing is an important tool in the diagnosis of Abetalipoproteinemia. It can help confirm the presence of mutations in the genes associated with this rare condition. Genetic testing may also be useful in determining the inheritance pattern and understanding the specific genes involved.

There are several different genes that have been found to be associated with Abetalipoproteinemia, including the microsomal triglyceride transfer protein (MTTP) gene and the apolipoprotein B (APOB) gene. Mutations in these genes can result in the abnormally low levels of lipoproteins seen in individuals with this condition.

To learn more about genetic testing for Abetalipoproteinemia, additional information can be found through various resources. The Online Mendelian Inheritance in Man (OMIM) database provides detailed information about the genes and genetic variants associated with this syndrome. PubMed is another resource that offers a wide range of scientific articles and research studies related to Abetalipoproteinemia.

ClinicalTrials.gov is a valuable tool for finding information about ongoing research studies and clinical trials focused on Abetalipoproteinemia. These studies can offer insight into the latest developments and potential treatments for this condition. Additionally, the Genetic and Rare Diseases Information Center (GARD) is a comprehensive resource that provides information about Abetalipoproteinemia and other rare diseases.

Genetic testing for Abetalipoproteinemia is rare due to the low frequency of this condition. However, for individuals showing symptoms or with a family history of Abetalipoproteinemia, this testing can provide valuable information for diagnosis and management of the disease.

The symptoms of Abetalipoproteinemia can vary and may include weakness, difficulty absorbing fat-soluble vitamins, and abnormalities in the function of various tissues. The deficiency of lipoproteins can cause a range of symptoms, which can be life-threatening if not properly managed.

In conclusion, genetic testing is a crucial tool in understanding Abetalipoproteinemia. It helps identify the specific genes associated with the condition, provides information on inheritance patterns, and contributes to ongoing research and the development of new treatments. Patients and their families can find support and advocacy through various resources available.

References:

  1. Hegele RA. Abetalipoproteinemia. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2022. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1232/.
  2. “MTTP gene.” Genetics Home Reference, U.S. National Library of Medicine, https://ghr.nlm.nih.gov/gene/MTTP.
  3. “APOB gene.” Genetics Home Reference, U.S. National Library of Medicine, https://ghr.nlm.nih.gov/gene/APOB.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) provides information about abetalipoproteinemia and other rare genetic diseases. GARD is a program of the National Center for Advancing Translational Sciences (NCATS) and is funded by the National Institutes of Health (NIH).

Abetalipoproteinemia is a rare genetic condition that affects how the body absorbs fats and fat-soluble vitamins. It is caused by mutations in the genes involved in the production of a protein called microsomal triglyceride transfer protein (MTP).

GARD provides information on the names and inheritance patterns of the genes associated with abetalipoproteinemia, as well as the clinical features and symptoms of the condition. GARD also provides resources on genetic testing, research articles, and clinical trials related to abetalipoproteinemia.

One of the main functions of GARD is to provide information to patients, families, and healthcare professionals about rare genetic diseases. GARD can help patients and families find resources and support groups, as well as connect them with advocacy organizations.

To learn more about abetalipoproteinemia, you can visit the GARD website or search for information in the GARD database. GARD also provides links to additional resources, such as scientific articles from PubMed and information from OMIM (Online Mendelian Inheritance in Man).

In addition to providing information on abetalipoproteinemia, GARD also provides information on other rare diseases. The GARD website includes a rare diseases catalog, which lists over 6,000 rare diseases and provides information on their symptoms, clinical trials, and resources. GARD also provides information on genetic testing and the development of new treatments for rare diseases.

References:

Patient Support and Advocacy Resources

Abetalipoproteinemia is a rare genetic disorder that affects the function of the intestines and liver, resulting in a deficiency of a protein called apolipoprotein B. This deficiency leads to the absence of certain lipoproteins in the blood, resulting in the inability to properly absorb dietary fats and fat-soluble vitamins.

If you or someone you know has been diagnosed with abetalipoproteinemia, it can be helpful to connect with patient support and advocacy resources. These organizations provide valuable information, resources, and support for individuals and families affected by rare diseases like abetalipoproteinemia.

Genetic and Rare Diseases Information Center (GARD)

The Genetic and Rare Diseases Information Center (GARD) is a program of the National Center for Advancing Translational Sciences (NCATS) and is funded by the National Institutes of Health (NIH). GARD provides reliable, up-to-date information about rare and genetic diseases, including abetalipoproteinemia. They offer a wide range of resources, including articles, fact sheets, and additional information about abetalipoproteinemia and other rare diseases.

Online Mendelian Inheritance in Man (OMIM)

Online Mendelian Inheritance in Man (OMIM) is a comprehensive database of genetic disorders and associated genes and traits. OMIM provides detailed information about the inheritance patterns, symptoms, and molecular genetics of abetalipoproteinemia. They also offer scientific articles, references, and clinical information for researchers and healthcare professionals.

See also  DICER1 gene

PubMed

PubMed is a database of scientific articles and research papers. It can be a valuable resource for finding studies and articles about abetalipoproteinemia. By searching for keywords like “abetalipoproteinemia,” “rare genetic disorders,” or “apolipoprotein B deficiency,” you can find relevant studies and research papers that may provide additional information about the condition and its causes.

ClinicalTrials.gov

ClinicalTrials.gov is a registry and database of clinical trials conducted around the world. It can be a useful resource for finding ongoing or upcoming clinical trials related to abetalipoproteinemia. These trials may offer opportunities for patients to participate in research studies and gain access to new treatments or therapies.

Patient Advocacy Organizations

There are several patient advocacy organizations dedicated to raising awareness and providing support for individuals and families affected by rare diseases like abetalipoproteinemia. These organizations often provide educational resources, support groups, and opportunities for advocacy and fundraising. Some examples of patient advocacy organizations that may be relevant to abetalipoproteinemia include the National Organization for Rare Disorders (NORD), the Global Genes Project, and the Rare Genomics Institute.

Remember, it’s important to consult with healthcare professionals and specialists for personalized advice and guidance regarding abetalipoproteinemia and its management.

Research Studies from ClinicalTrials.gov

Abetalipoproteinemia is a rare genetic condition that affects the function of genes associated with the production of proteins involved in lipid metabolism. This condition is caused by mutations in the genes MTTP and APOB. The inheritance is autosomal recessive.

Patients with abetalipoproteinemia may present with symptoms such as deficiency in fat-soluble vitamins, weakness, and abnormally low levels of lipoproteins in the blood. The frequency of this rare condition is estimated to be 1 in 100,000 to 1 in 1,000,000 people.

Research studies from ClinicalTrials.gov provide additional resources and information on studies related to abetalipoproteinemia. These studies aim to understand the causes, development, and treatment of this rare disease.

One study listed on the ClinicalTrials.gov website is titled “Assessing the Efficacy and Safety of Therapy for Abetalipoproteinemia” (NCT01296095). This study aims to evaluate the effects of a new therapeutic intervention in patients with abetalipoproteinemia.

Another study titled “Genetic Testing for Abetalipoproteinemia” (NCT02552317) focuses on the genetic aspects of the condition. It aims to identify additional genes associated with abetalipoproteinemia through genetic testing.

In addition to research studies, ClinicalTrials.gov also provides information on advocacy and support resources for patients with abetalipoproteinemia. These resources include patient support groups, clinical trial centers, and genetic testing centers.

For more information on abetalipoproteinemia, the Online Mendelian Inheritance in Man (OMIM) catalog and PubMed are good scientific references. These resources contain articles and research studies that provide a comprehensive understanding of the condition.

Learn more about this rare disease and genetic testing for abetalipoproteinemia by exploring the research studies and resources available on ClinicalTrials.gov.

Catalog of Genes and Diseases from OMIM

Abetalipoproteinemia is a rare genetic condition characterized by the deficiency of a protein called apolipoprotein B. This condition affects the normal absorption and transport of dietary fats and fat-soluble vitamins. As a result, affected individuals may experience a range of symptoms including weakness, developmental delay, and abnormal blood lipid levels.

The OMIM database is a valuable resource for understanding genetic diseases like abetalipoproteinemia. It provides information about the genes and genetic variants associated with this condition, as well as other related diseases. The catalog includes clinical trial information from ClinicalTrials.gov, which can help patients and researchers learn about ongoing studies and treatment options.

OMIM also provides a comprehensive list of relevant scientific articles and references. These articles cover a range of topics such as the genetic causes of abetalipoproteinemia, clinical manifestations and symptoms, and information about testing and inheritance patterns. This information can be useful for healthcare professionals, researchers, and advocacy organizations seeking to learn more about this rare syndrome.

The OMIM catalog includes information on genes associated with abetalipoproteinemia, such as the microsomal triglyceride transfer protein (MTTP) gene and the apolipoprotein B (APOB) gene. These genes play a crucial role in fat metabolism and the development of the condition. Additional genetic and clinical information can be found on the OMIM website.

In addition to OMIM, other resources such as PubMed and ClinicalTrials.gov can provide additional information on abetalipoproteinemia. These platforms host a wide range of articles and research studies that can contribute to our understanding of this rare genetic disorder.

Overall, the catalog of genes and diseases from OMIM is an invaluable tool for researchers, healthcare providers, and patients seeking information about abetalipoproteinemia and related conditions. The database provides a comprehensive overview of the genetic causes, clinical manifestations, and available research on this rare syndrome, allowing for a better understanding of the condition and improved patient support.

Scientific Articles on PubMed

PubMed is a valuable resource for accessing scientific articles about Abetalipoproteinemia. Here are some key features and resources available on PubMed:

  • PubMed provides a comprehensive collection of scientific articles and research studies on a variety of diseases and conditions, including Abetalipoproteinemia.
  • Frequent updates ensure that the latest research and studies on Abetalipoproteinemia are available.
  • The PubMed catalog includes information about genetic inheritance and the associated genes involved in Abetalipoproteinemia.
  • Scientific articles on PubMed can provide additional information about the causes, symptoms, and functions of Abetalipoproteinemia.
  • Patient advocacy and support center studies can also be found, offering resources and information for individuals and families affected by Abetalipoproteinemia.
  • ClinicalTrial.gov is a related resource where you can learn about ongoing clinical trials and studies focused on Abetalipoproteinemia.
  • OMIM (Online Mendelian Inheritance in Man) is another database that provides information about rare genetic diseases, including Abetalipoproteinemia.
  • Dr. Hegele’s research has been essential in the understanding and development of testing for Abetalipoproteinemia.

Overall, PubMed is an invaluable tool for researchers, clinicians, and individuals interested in learning more about Abetalipoproteinemia. It offers a wealth of scientific articles and resources that contribute to our understanding of this rare genetic condition.

References

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