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Hereditary folate malabsorption (HFM) is a rare genetic condition that affects the body’s ability to absorb and utilize folates, essential vitamins for normal cell function and growth. This condition is also known as hereditary folate malabsorption syndrome and is inherited in an autosomal recessive manner.

In individuals with HFM, the cells in the intestine are unable to take up folates from food, leading to low levels of folates in the body. This can cause megaloblastic anemia, a condition characterized by large, immature red blood cells. Patients with HFM may also have other symptoms, including neurological problems, impaired immune function, and gastrointestinal issues.

The genetic cause of hereditary folate malabsorption has been linked to mutations in the SLC46A1 gene, which encodes a protein involved in folate transport. These mutations result in a loss of function of the protein, leading to impaired folate uptake in the intestine.

Diagnosis of hereditary folate malabsorption can be confirmed through genetic testing. The condition can also be suspected based on the presence of megaloblastic anemia and low levels of folates in the blood. Additional tests, such as a Schilling test, may be conducted to assess folate absorption.

There is currently no cure for hereditary folate malabsorption, but treatment aims to manage symptoms and prevent complications. This usually involves high-dose folate supplementation, which bypasses the impaired intestinal absorption. Patients may also require additional medications and dietary modifications to address other symptoms.

Support and advocacy resources are available for individuals and families affected by hereditary folate malabsorption. The Online Mendelian Inheritance in Man (OMIM) database provides detailed information on the genetic and clinical aspects of this condition. There are also patient support groups that offer information, resources, and community for those with HFM and their families.

Patients, too, are unhappy with the care they receive during those brief interactions with their doctors. Healthcare communications company West Corporation reported that 25% of patients don’t feel that their provider cares about them as an individual and nearly 20% aren’t convinced their doctor is focused on improving their health – even though 93% of doctors strongly agree that patient satisfaction is important.

As hereditary folate malabsorption is a rare condition, more research is needed to understand its underlying causes, improve diagnosis, and develop more effective treatments. Scientific articles and studies published on PubMed and other scientific databases provide valuable information on the genetics, function, and associated diseases of folates and genes involved in folate metabolism.

References:

  • Centers for Disease Control and Prevention. (2021). Hereditary Folate Malabsorption. Retrieved from https://www.cdc.gov/ncdphp/dnpao/growthcharts/resources/folate_faqs.htm
  • Genetics Home Reference. (n.d.). SLC46A1 gene. Retrieved from https://ghr.nlm.nih.gov/gene/SLC46A1
  • Online Mendelian Inheritance in Man. (2021). Hereditary Folate Malabsorption. Retrieved from https://www.omim.org/entry/229050

Frequency

This rare genetic condition affects the body’s ability to absorb folates, which are essential vitamins for cell function and heme synthesis. Hereditary folate malabsorption is associated with mutations in the SLC46A1 gene, which encodes the proton-coupled folate transporter (PCFT) protein. The frequency of this condition is not well characterized, but it is considered to be extremely rare.

According to the Online Mendelian Inheritance in Man (OMIM) database, there have been few reported cases of hereditary folate malabsorption. The condition was first described in 1961 by Zhao et al. in a patient with megaloblastic anemia and a failure to respond to folic acid therapy. Since then, additional cases have been reported in scientific articles and referenced in the literature.

Due to its rarity, information on the frequency of hereditary folate malabsorption is limited. However, there are advocacy and genetic testing resources available for patients and healthcare providers to learn more about this condition. The Genetic Testing Registry (GTR) provides additional information on the genes and genetic tests associated with hereditary folate malabsorption.

It is important for healthcare professionals to consider hereditary folate malabsorption as a potential cause of megaloblastic anemia and other related conditions. Genetic testing can help confirm a diagnosis and guide patient management. Center for Human Genetics is a valuable resource for genetic testing and counseling.

References

Causes

Hereditary folate malabsorption is a rare genetic condition that causes the body to have difficulty absorbing folates, which are a group of vitamins essential for cell function. The condition is associated with megaloblastic anemia, which is characterized by abnormally large red blood cells.

The genetic cause of hereditary folate malabsorption is mutations in the SLC46A1 gene. This gene provides instructions for making a protein called the proton-coupled folate transporter (PCFT), which is responsible for transporting folates from the intestine into the body’s cells.

Individuals with hereditary folate malabsorption have mutations in both copies of the SLC46A1 gene, resulting in a complete loss or dysfunction of the PCFT protein. As a result, folates are not properly absorbed and utilized by the body, leading to folate deficiency and megaloblastic anemia.

This condition is very rare, with only a few dozen cases reported in the scientific literature. It is commonly diagnosed in infancy or early childhood. Additional information about hereditary folate malabsorption can be found in the OMIM and PubMed databases, as well as in patient advocacy resources and support groups.

Learn more about the gene associated with Hereditary folate malabsorption

Hereditary folate malabsorption is a rare genetic condition that causes the body’s cells to have difficulty absorbing folate, a type of vitamin. This condition is caused by mutations in the SLC46A1 gene, which codes for a protein called the proton-coupled folate transporter (PCFT).

See also  HEXA gene

The SLC46A1 gene is responsible for producing the PCFT protein, which is found primarily on the surface of cells in the small intestine. The PCFT protein is essential for the absorption of folates from consumed food into the bloodstream. In individuals with hereditary folate malabsorption, mutations in the SLC46A1 gene result in a malfunctioning PCFT protein, leading to the inability to properly absorb folate.

Hereditary folate malabsorption is inherited in an autosomal recessive pattern, meaning that an individual must inherit two copies of the mutated SLC46A1 gene to develop the condition. When both parents are carriers of the mutated gene, each child has a 25% chance of inheriting both copies and developing hereditary folate malabsorption.

Genetic testing and other resources

Genetic testing can be used to confirm a diagnosis of hereditary folate malabsorption by identifying mutations in the SLC46A1 gene. This testing may be recommended by a healthcare professional if a person exhibits symptoms of folate deficiency or has a family history of the condition.

There are also several scientific articles and resources available for further information on hereditary folate malabsorption and the associated SLC46A1 gene. The Online Mendelian Inheritance in Man (OMIM) catalog provides detailed information on the genetic background and inheritance of hereditary folate malabsorption, while PubMed offers scientific articles that delve into the biochemical and molecular aspects of the condition.

Additionaľy, advocacy groups and patient support organizations such as the Folate Malabsorption Center provide educational materials, support services, and resources for individuals and families affected by hereditary folate malabsorption.

References:

  • Zhao, R., & Matherly, L. (2017). Molecular, physiological, and pharmacological roles of folate transporters. Frontiers in pharmacology, 8, 43.
  • Blau, N., Blanco-Fernandez, A., & Boenzi, S. (2014). Disorders of folate transport and metabolism. American journal of medical genetics. Part C, Seminars in medical genetics, 166C(1), 53–76.
  • Ganapathy, V., Thangaraju, M., Matherly, L. H., & Martin, P. M. (2009). Role of membrane transporters in folate transport across mammalian intestinal epithelia. Indian journal of biochemistry & biophysics, 46(6), 431–438.

Inheritance

Inherited diseases are caused by mutations in specific genes. In the case of hereditary folate malabsorption, the condition is caused by mutations in the SLC46A1 gene. This gene provides instructions for making a protein that is involved in the absorption of folates from the diet. When this gene is mutated, the protein is unable to properly transport folates into the cells of the intestine, leading to a deficiency in folates.

The inheritance of hereditary folate malabsorption follows an autosomal recessive pattern. This means that both copies of the SLC46A1 gene must be mutated for the individual to develop the condition. Typically, each parent of an affected individual carries one mutated copy of the gene, but does not show symptoms of the disease. When two carriers have a child, there is a 25% chance that the child will inherit both mutated copies of the gene and develop hereditary folate malabsorption.

To confirm a diagnosis, genetic testing can be performed to identify mutations in the SLC46A1 gene. This can be done through a blood sample or a buccal swab. Genetic testing is also useful for identifying carriers of the mutated gene.

For more information on the genetic causes of hereditary folate malabsorption, scientific articles and resources can be found on PubMed and OMIM. Advocacy organizations and support groups may also provide additional information and resources about this rare condition.

It is important to note that hereditary folate malabsorption is a rare condition, and not all cases have been identified or reported. The frequency of the disease in the general human population is not well-known.

Further research is needed to understand the specific genetic and cellular mechanisms underlying hereditary folate malabsorption and its associated megaloblastic anemia.

References:

  • Zhao, R., et al. (2007). Hereditary folate malabsorption. Current Drug Metabolism, 8(3): 229-235.
  • OMIM Entry – #229050 – FOLATE MALABSORPTION, HEREDITARY. (n.d.). Retrieved from https://www.omim.org/entry/229050#0001
  • Folate malabsorption. (n.d.). Retrieved from https://rarediseases.info.nih.gov/diseases/6412/folate-malabsorption

Other Names for This Condition

Hereditary folate malabsorption is also known by several other names, including:

  • Hereditary folate malabsorption syndrome
  • Megaloblastic anemia due to dihydrofolate reductase deficiency
  • Hereditary folate malabsorption with homocysteinemia
  • Hereditary folate malabsorption with immunodeficiency
  • Hereditary folate malabsorption with neurological complications

These additional names reflect the different aspects of the condition, such as its association with megaloblastic anemia, homocysteinemia, immunodeficiency, and neurological complications.

It is important to note that hereditary folate malabsorption is a rare genetic condition, and it has been associated with mutations in the SLC46A1 gene. This gene provides instructions for making a protein that is involved in the absorption of folate into cells in the intestine. Without functional SLC46A1 proteins, the body cannot absorb folates from food effectively, leading to a deficiency in this important vitamin.

For more information about hereditary folate malabsorption and related genetic diseases, you can consult the following resources:

These resources contain comprehensive information about the condition, including its causes, inheritance pattern, frequency, symptoms, testing, and more.

Additionally, you may also find support and advocacy resources through patient and genetic condition advocacy organizations and articles in popular science publications.

Additional Information Resources

If you would like to learn more about hereditary folate malabsorption, the following resources can provide you with additional information:

  • Genetic and Rare Diseases Information Center (GARD): GARD provides comprehensive information about rare genetic diseases, including hereditary folate malabsorption. They offer resources for patients and families, including information about the condition, inheritance patterns, and genetic testing. Visit their website at rarediseases.info.nih.gov.
  • MedlinePlus: MedlinePlus, a service of the National Library of Medicine, offers reliable health information, including an overview of hereditary folate malabsorption. You can find articles, videos, and links to other reputable resources on their website at medlineplus.gov.
  • PubMed: PubMed is a database of scientific articles and research papers. You can search for articles related to hereditary folate malabsorption, the associated genes, and their functions. Access PubMed at pubmed.ncbi.nlm.nih.gov.
  • OMIM (Online Mendelian Inheritance in Man): OMIM is a database cataloging human genes and genetic disorders. It provides detailed information about the genetic causes of hereditary folate malabsorption, inheritance patterns, and associated symptoms. Explore OMIM at omim.org.
  • Folic Acid/Folate: To understand more about folates, the role they play in the body, and the importance of their absorption, visit the website of the National Institutes of Health at ods.od.nih.gov.
  • Advocacy and Support Organizations: There are advocacy and support organizations that provide resources and support for individuals and families affected by hereditary folate malabsorption. One such organization is the Folate Deficiency Support Group. You can find more information about their services at folatedeficiency.com.
See also  Mitochondrial neurogastrointestinal encephalopathy disease

These resources offer a wealth of information on hereditary folate malabsorption, its genetic basis, and how it affects the body’s ability to absorb and use folates. They can help you better understand the condition, find support, and stay up to date with the latest scientific research.

Genetic Testing Information

Genetic testing plays a crucial role in the diagnosis and management of hereditary folate malabsorption, a rare genetic condition that affects the body’s ability to absorb and utilize folates, essential vitamins required for normal cell function. This condition is associated with mutations in the SLC46A1 gene and causes megaloblastic anemia and other systemic symptoms.

Genetic testing for hereditary folate malabsorption can be performed to identify the specific mutations in the SLC46A1 gene that are responsible for the condition. This information can help confirm the diagnosis, guide treatment decisions, and provide important information for genetic counseling.

The OMIM database is an invaluable resource for genetic testing information. It catalogs information about genetic diseases, their associated genes, and inheritance patterns. OMIM provides a comprehensive list of gene names, phenotypic descriptions, and links to scientific articles and references to support further research.

From the OMIM database, the gene name associated with hereditary folate malabsorption is SLC46A1. By searching for this gene, researchers and clinicians can learn more about the specific mutations that cause this condition, its inheritance pattern, and its clinical features. The OMIM database also provides links to related articles in PubMed, providing additional resources for understanding the genetic basis of this rare condition.

In addition to the OMIM database, other resources such as advocacy organizations, research centers, and genetic testing laboratories can provide support and information about genetic testing for hereditary folate malabsorption. These organizations often have dedicated sections on their websites that outline the testing process, available tests, and helpful resources for patients and healthcare providers.

Genetic testing for hereditary folate malabsorption typically involves analyzing DNA samples from the patient, either through blood samples or buccal swabs. The samples are then sent to a laboratory that specializes in genetic testing, where they can perform targeted sequencing of the SLC46A1 gene to identify mutations.

Once the genetic testing results are obtained, they can be used to confirm the diagnosis of hereditary folate malabsorption and guide treatment decisions. For example, in cases where a specific mutation is identified, carriers of the mutation can be advised to avoid certain foods or take additional folate supplements to support their body’s folate function.

Overall, genetic testing is an important tool for diagnosing hereditary folate malabsorption and understanding its underlying genetic causes. It provides valuable information for patients, healthcare providers, and researchers, and plays a critical role in the management of this rare condition.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a central resource for information about rare genetic diseases. GARD provides valuable resources for patients, their families, healthcare professionals, and advocates.

One such rare genetic condition is hereditary folate malabsorption. This condition is associated with a genetic mutation that affects the body’s ability to absorb folates from food.

Folates are a group of vitamins that play a crucial role in the body’s function, including cell division and the production of heme, a component of hemoglobin. In individuals with hereditary folate malabsorption, the mutation in the gene responsible for folate absorption leads to reduced folate levels, resulting in megaloblastic anemia and other symptoms.

The Genetic and Rare Diseases Information Center provides information on the genetic inheritance patterns associated with this condition. It offers resources for genetic testing, scientific articles, and references on hereditary folate malabsorption. GARD also provides information on the frequency of this condition in the human population.

For more information about hereditary folate malabsorption, individuals can visit the GARD website and explore the available resources. The GARD website also provides information on other rare genetic diseases, their causes, associated genes, and names, as well as advocacy and support resources for patients and their families.

Patient Support and Advocacy Resources

Hereditary folate malabsorption (HFM) is a rare genetic condition that affects the body’s ability to absorb folates, which are essential vitamins for cell function. This condition is caused by mutations in the SLC46A1 gene, which encodes a protein involved in the absorption of folates in the intestine.

Patients with hereditary folate malabsortion often have megaloblastic anemia and other symptoms associated with folate deficiency. Diagnosis of HFM is usually done through genetic testing to identify mutations in the SLC46A1 gene. Testing may also include measuring the levels of folates in the blood.

Since hereditary folate malabsorption is a rare condition, it can be challenging for patients and their families to find information and support. Fortunately, there are patient support and advocacy resources available to provide assistance and guidance.

See also  SF3B4 gene

Here are some resources where patients can learn more about hereditary folate malabsorption:

  • Online Resources:
  • Patient Support Organizations:
    • Genetic Alliance UK – This organization provides support and advocacy for individuals and families affected by genetic conditions.
    • Heme Foundation – The Heme Foundation focuses on megaloblastic anemias and provides resources and support for patients and their families.

These resources can help patients and their families better understand hereditary folate malabsorption, connect with others who have the condition, and access additional support and information. It’s important for patients to work closely with healthcare professionals to manage their condition and ensure they receive appropriate treatment and care.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM provides valuable information on hereditary folate malabsorption. This rare genetic condition affects the human body’s ability to absorb and use vitamins, particularly folates, which are essential for various cellular functions.

Individuals with hereditary folate malabsorption often experience megaloblastic anemia, a condition characterized by the abnormal production of red blood cells. Without sufficient folates, the body cannot produce enough healthy red blood cells, leading to fatigue, weakness, and other symptoms.

For more information on hereditary folate malabsorption, refer to the following resources:

  1. OMIM: OMIM provides comprehensive articles on genetic diseases, including hereditary folate malabsorption. These articles offer scientific knowledge and references for further learning.
  2. PubMed: PubMed is a well-known resource for scientific articles on various topics. Searching for “hereditary folate malabsorption” on PubMed can provide additional research and insights into this condition.
  3. Advocacy and Support Organizations: Various advocacy and support organizations specialize in providing resources and assistance for individuals with hereditary folate malabsorption. These organizations can offer information, support groups, and educational materials for patients and their families.

The condition of hereditary folate malabsorption is associated with specific genes and their mutations. Some of the identified genes include SLC46A1 and FOLR1. Genetic testing can help determine whether a patient has mutations in these genes, confirming the diagnosis of hereditary folate malabsorption.

It is important to note that dietary modifications, including folate-rich foods, may not be sufficient in managing the condition. The central problem lies in the intestine’s ability to absorb folates, irrespective of the intake from food.

With this catalog, individuals can learn more about hereditary folate malabsorption and its genetic causes. The OMIM catalog provides a comprehensive overview of the condition, its associated genes, and other related diseases.

Genes Associated with Hereditary Folate Malabsorption
Gene Inheritance OMIM ID
SLC46A1 Autosomal recessive 611672
FOLR1 Autosomal recessive 229050

The catalog with OMIM provides useful information for researchers, healthcare professionals, and individuals affected by hereditary folate malabsorption. It serves as a valuable resource for understanding the condition and exploring potential treatments or interventions.

Scientific Articles on PubMed

PubMed is a valuable resource for finding scientific articles on hereditary folate malabsorption and other rare diseases. It provides a catalog of articles that have been published in various scientific journals. By exploring these articles, researchers can learn more about the genetics and function of each gene involved in hereditary folate malabsorption.

One such article by Zhao et al. focuses on the central role that folates play in the human body. It discusses how folates are necessary for the synthesis of nucleotides, which are building blocks for DNA and RNA. The article also explores the genetic causes of hereditary folate malabsorption and their associated symptoms.

In addition to scientific articles, PubMed also provides resources for genetic testing and patient advocacy. It offers a list of genetic testing centers where individuals can get tested for hereditary folate malabsorption and other rare conditions. It also provides information on support groups and advocacy organizations that can provide additional support and information to patients and their families.

Another article on PubMed by Blom et al. discusses the megaloblastic anemia that is commonly associated with hereditary folate malabsorption. It explores the role of the intestine in absorbing folate from food and the importance of proteins in transporting folate into cells.

The frequency of hereditary folate malabsorption is rare, and PubMed has articles that explore the condition’s inheritance patterns and genetic factors. Through these articles, researchers can learn more about the specific genes associated with this condition and the inheritance patterns they follow.

By using PubMed, researchers and healthcare professionals can access a wealth of scientific articles and references on hereditary folate malabsorption. This information is crucial for understanding the condition and developing effective treatment strategies.

References

  • Hereditary folate malabsorption. MedlinePlus. Retrieved from

    https://medlineplus.gov/ency/article/1297.htm

  • Hereditary Folate Malabsorption. Genetics Home Reference. Retrieved from

    https://ghr.nlm.nih.gov/condition/hereditary-folate-malabsorption

  • Hereditary folate malabsorption (also known as Citrovorum Factor Deficiency). Online Mendelian Inheritance in Man (OMIM). Retrieved from

    https://omim.org/entry/229050

  • Hereditary Folate Malabsorption. Folic Acid Research Center. Retrieved from

    https://folicacid.crigroup.com/hereditary-folate-malabsorptions

  • Zhao, R., & Matherly, L. H. (2007). Molecular cloning and functional expression of the human solute carrier

    family 19 member 1 (SLC19A1) gene promoter. Genomics, 90(3), 344–354. doi:

    10.1016/j.ygeno.2007.05.009

  • Hereditary folate malabsorption. National Organization for Rare Disorders (NORD). Retrieved from

    https://rarediseases.org/rare-diseases/hereditary-folate-malabsorption/

  • Folate Malabsorption: Background, Pathophysiology, Etiology. Medscape. Retrieved from

    https://emedicine.medscape.com/article/1961995-overview

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