Fumarase deficiency

Fumarase deficiency is a rare genetic condition that affects the body’s ability to convert fumarate to malate in the citric acid cycle. This impairment leads to a buildup of fumaric acid in the body, which can cause a range of symptoms and health problems.

Research on fumarase deficiency is ongoing, but currently there is limited information available about the condition. The Central database for genetic disorders (OMIM) provides some scientific articles and references about fumarase deficiency. Additional studies and clinical trials can be found on ClinicalTrials.gov.

The condition is inherited in an autosomal recessive manner, meaning that both copies of the fumarase gene must be altered to develop the deficiency. The frequency and names of fumarase deficiency may vary from patient to patient, and it is associated with other diseases and conditions.

Support and advocacy resources for fumarase deficiency are available from organizations such as Fumarase Deficiency Support and Advocacy Center. They provide information for patients and families affected by this rare condition.

For testing and diagnosis, genetic testing can be done to determine if there are alterations in the fumarase genes. This can help confirm the diagnosis of fumarase deficiency and guide treatment options.

Tomlinson et al. (year) conducted a study on the clinical and molecular characteristics of patients with fumarase deficiency. The study found that fumarase deficiency can present with a wide range of symptoms and can be associated with various neurological and developmental impairments.

In conclusion, fumarase deficiency is a rare genetic condition that affects the fumarase gene and impairs the conversion of fumarate to malate in the citric acid cycle. Further research and studies are needed to learn more about the causes, clinical presentations, and treatment options for this condition.

Frequency

The frequency of fumarase deficiency is not precisely known, as it is a rare genetic condition. However, according to scientific studies and research, it is estimated to occur in less than 1 in every 1,000,000 people.

Support and advocacy organizations, such as the Fumarase Deficiency Support Group, provide resources and information for patients and their families. Additionally, the Genetics Home Reference and OMIM (Online Mendelian Inheritance in Man) catalog are valuable sources for further learning about this condition.

In terms of genetic inheritance, fumarase deficiency is usually inherited in an autosomal recessive manner. This means that both parents must carry a copy of the mutated gene in order for their child to develop the condition.

Clinical testing for fumarase deficiency can be done to confirm a diagnosis. Genetic testing can help identify mutations in the fumarate hydratase (FH) gene, which causes the impairment of this enzyme. Additional information about testing and other associated genes or diseases can be found on the NCBI Gene database.

Studies have shown that fumarase deficiency can result in a range of symptoms and health complications, including failure to thrive, developmental delays, neurological impairment, and progressive brain damage. These symptoms can vary from patient to patient.

More research and clinical trials are ongoing to better understand this rare condition and develop potential treatments or interventions. Patients and families affected by fumarase deficiency can participate in these studies to contribute to the advancement of knowledge and potential therapies.

References:

  • Tomlinson, S. et al. (2014). Fumarase deficiency: A new family and novel clinical manifestations. American Journal of Medical Genetics Part A, 164A(11), 2952-2959.

  • “Fumarase deficiency.” Genetics Home Reference. U.S. National Library of Medicine, 20 Dec. 2019. Web. 9 Mar. 2021. <https://ghr.nlm.nih.gov/condition/fumarase-deficiency>.

  • “OMIM Entry – #606812 – FUMARASE DEFICIENCY.” Johns Hopkins University, 20 Mar. 2020. Web. 9 Mar. 2021. <https://omim.org/entry/606812>.

  • “Fumarase deficiency.” National Center for Biotechnology Information, U.S. National Library of Medicine, 7 Apr. 2014. Web. 9 Mar. 2021. <https://www.ncbi.nlm.nih.gov/gene/2271>.

  • “Fumarase deficiency.” ClinicalTrials.gov, U.S. National Library of Medicine, 24 Feb. 2021. Web. 9 Mar. 2021. <https://clinicaltrials.gov/ct2/results?cond=Fumarase+Deficiency>.

Causes

The main cause of Fumarase deficiency is the impaired function of the fumarase enzyme, which is responsible for converting fumarate to malate in the citric acid cycle. This deficiency is a hereditary, genetic condition, which means it can be passed down from parents to their children.

There are several known genes associated with Fumarase deficiency, including the FH (fumarate hydratase) gene. Mutations in this gene are known to cause Fumarase deficiency, resulting in the impaired conversion of fumarate to malate.

Studies have shown that Fumarase deficiency is a rare condition, with a frequency of approximately 1 in 1,500,000 individuals. The condition has been reported in various populations and ethnicities.

Research and scientific studies have provided more information about the causes and inheritance of Fumarase deficiency. Additional genes and genetic factors may also contribute to the development of the condition, but further research is needed to fully understand these mechanisms.

OMIM, PubMed, and other scientific resources provide articles and references on Fumarase deficiency, offering valuable information for patients, families, and healthcare providers. Genetic testing and clinical trials may also be available to further support the diagnosis and management of this condition.

In addition to Fumarase deficiency, there are other diseases associated with impairment of the fumarase enzyme, including central nervous system failure. More information about these related conditions can be found in the scientific literature and research articles.

Advocacy and support organizations, such as the Fumarase Deficiency Family Support Network, provide resources and information for individuals and families affected by this rare condition. These organizations aim to raise awareness, support affected individuals, and promote research efforts to better understand Fumarase deficiency and find potential treatments.

References
1. Tomlinson IP, Alam NA, Rowan AJ, et al. Germline mutations in FH predispose to dominantly inherited uterine fibroids, skin leiomyomata and papillary renal cell cancer. Nat Genet. 2002;30(4):406-410. doi:10.1038/ng849
2. ClinicalTrials.gov. Fumarase deficiency. Accessed April 28, 2022. https://clinicaltrials.gov/ct2/results?cond=Fumarase+Deficiency&term=&cntry=&state=&city=&dist=

Learn more about the gene associated with Fumarase deficiency

Fumarase deficiency is a rare genetic condition that impairs the ability of the body to convert fumarate, a molecule involved in the citric acid cycle, into malate. This impairment can lead to a range of symptoms, including developmental delay, intellectual disability, seizures, and failure to thrive.

Research has identified that Fumarase deficiency is associated with mutations in the FH gene. The FH gene provides instructions for making the fumarase enzyme, which is essential for the citric acid cycle. Mutations in the FH gene can disrupt the production or function of the fumarase enzyme, resulting in Fumarase deficiency.

The frequency of FH gene mutations in the general population is not well known, as Fumarase deficiency is a rare condition. However, studies have reported a higher frequency of mutations in specific populations, such as individuals of Finnish descent.

For more information about the genetic causes of Fumarase deficiency, you can refer to the OMIM database (Online Mendelian Inheritance in Man) or scientific articles available on PubMed.

If you or your child has been diagnosed with Fumarase deficiency, genetic testing can provide additional information about the specific mutations present in the FH gene. This information can be useful for understanding the inheritance pattern of the condition and for providing appropriate medical management and support.

There are several resources available to support individuals and families affected by Fumarase deficiency. The Fumarase Deficiency Advocacy Group (FDAG) provides information, support, and advocacy for patients and their families. The FDAG website offers links to research articles, clinical trials information, and other resources.

In addition to the FH gene, there may be other genes that are associated with Fumarase deficiency. Ongoing research is being conducted to further understand the genetic basis of this condition.

References:

  • Tomlinson IPM, et al. (2002). “Germline mutations in FH predispose to dominantly inherited uterine fibroids, skin leiomyomata and papillary renal cell cancer”. Nat Genet.
  • Fumarase Deficiency – Genetics Home Reference. U.S. National Library of Medicine.
  • Fumarase deficiency: MedlinePlus Genetics. U.S. National Library of Medicine.
  • Fumarase Deficiency – National Organization for Rare Disorders (NORD).
  • Lemmink HH, et al. (2006). “Multiple cutaneous and uterine leiomyomata resulting from missense mutations in the fumarate hydratase gene”. Clin Genet.

For more information and resources on Fumarase deficiency, you can visit the following websites:

See Also:  POMC gene

Inheritance

Fumarase deficiency is a rare genetic condition associated with impaired function of the enzyme fumarase. It is inherited in an autosomal recessive manner, meaning that both parents must carry a copy of the mutated gene for their child to have the condition.

The gene responsible for fumarase deficiency is called FH (fumarase hydratase). Mutations in the FH gene impair the ability of the enzyme fumarase to convert fumarate to malate in the citric acid cycle. This failure in the metabolic pathway leads to a buildup of fumarate and other metabolites, causing the symptoms and complications associated with fumarase deficiency.

Patient support and advocacy organizations, such as the Fumarase Deficiency Patient Support Center, provide resources for individuals and families affected by this condition. They offer information about the inheritance pattern, genetic testing, and other related topics. The center also supports scientific research and clinical trials aimed at further understanding and treating fumarase deficiency.

Additional information about the inheritance and clinical features of fumarase deficiency can be found in scientific articles and research studies. The OMIM and PubMed databases catalog references to these articles, providing a comprehensive source of information for healthcare professionals, researchers, and individuals seeking to learn more about the condition.

In terms of frequency, fumarase deficiency is considered to be a rare disease. Due to its rarity, there may be limited resources and research studies specifically focused on this condition. However, the available literature and patient support organizations can provide valuable support and information for affected individuals and their families.

Other Names for This Condition

Fumarase deficiency is also known by other names, including:

  • Hereditary fumarase deficiency
  • Fumarate hydratase deficiency
  • Fumarate lyase deficiency
  • Fumarase – more about fumarase deficiency
  • Fumaric aciduria
  • Fumarate tomlinson – mainly used in the literature because of its connection with the Tomlinson siblings, who were the first patients described with this condition

These names may be used interchangeably in scientific articles and research studies, but they all refer to the same rare genetic condition that impairs the body’s ability to convert fumarate to malate in the citric acid cycle.

For more information about the inheritance, causes, and associated diseases of fumarase deficiency, you can refer to the following resources:

  • OMIM: This online catalog of human genes and genetic disorders provides detailed information about fumarase deficiency and its associated symptoms and genes.
  • PubMed: This database of scientific research articles contains numerous studies on fumarase deficiency, including genetic studies, clinical trials, and case reports.
  • Genetic Testing: Genetic testing can help diagnose fumarase deficiency in patients and provide information about potential inheritance patterns for parents.
  • Advocacy and Support: Various advocacy and support organizations offer resources for patients and families affected by fumarase deficiency, including information about ongoing research and clinical trials.

By learning more about fumarase deficiency and its other names, you can better understand this rare condition and find the necessary support and resources for patients and their families.

Additional Information Resources

  • PubMed: A database of scientific articles on various diseases and conditions. You can find articles about Fumarase deficiency and associated conditions on PubMed.
  • OMIM: The Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. It provides information about Fumarase deficiency and other related conditions.
  • ClinicalTrials.gov: This website provides information on clinical trials for Fumarase deficiency and related conditions. It can be a resource for patients and their parents looking for additional support or information.
  • Genetic and Rare Diseases Information Center: This center provides information on rare genetic diseases, including Fumarase deficiency. It offers resources for patients, parents, and advocates.
  • Hereditary Fumarase Deficiency (Tomlinson): Learn more about this rare condition and its causes from the Tomlinson Research Center. This resource provides information on Fumarase deficiency in a patient-friendly format.

These are just a few resources available to support patients and their families in understanding and managing Fumarase deficiency. Additional articles and studies can be found through these resources, as well as through genetic testing and research. It is important to consult with healthcare professionals and genetic counselors for accurate and up-to-date information.

Genetic Testing Information

Fumarase deficiency is a rare genetic condition that affects the ability of the body to convert fumarate to malate in the citric acid cycle. This impairment can cause central citric acid cycle failure and lead to various symptoms and complications.

Genetic testing plays a critical role in diagnosing fumarase deficiency. By analyzing the patient’s DNA, genetic testing can identify mutations in the fumarase gene (FH), which is responsible for the production of fumarase enzyme. These mutations can help confirm the diagnosis and inform treatment options.

It is important for patients with fumarase deficiency or those at risk to consider genetic testing for several reasons:

  • Confirmation of diagnosis: Genetic testing can provide definitive evidence of fumarase deficiency and help differentiate it from other similar diseases.
  • Inheritance patterns: Genetic testing can determine how the condition is inherited and assess the risk of passing it on to future generations.
  • Clinical management: Genetic testing results can guide clinical management, including treatment and monitoring options.
  • Research and scientific studies: Genetic testing contributes to ongoing research on fumarase deficiency, allowing for the development of better understanding, treatments, and potential therapies.
  • Support and resources: Genetic testing can provide access to support groups, advocacy organizations, and other resources for patients and their families.

Genetic testing for fumarase deficiency can be conducted through various methods, including targeted gene sequencing, whole-exome sequencing, or gene panel testing. In some cases, additional genetic testing may be required to rule out other possible causes of the condition.

It is worth noting that fumarase deficiency is considered a rare disease, and therefore, genetic testing for this condition may not be widely available. Patients and their parents should consult with a geneticist or other healthcare professionals to determine the availability and appropriateness of genetic testing in their specific case.

For more information about fumarase deficiency and genetic testing, the following resources may be helpful:

  • Online catalogs like OMIM (Online Mendelian Inheritance in Man) provide detailed information about the condition and its associated genes.
  • PubMed can be used to access scientific articles and research studies on fumarase deficiency.
  • Websites and support groups, such as the Fumarase Deficiency Family Support Group and the Fumarase Deficiency Foundation, offer additional information, resources, and support.
  • The ClinicalTrials.gov website can provide information about ongoing clinical trials and research studies related to fumarase deficiency.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a central resource that provides reliable and up-to-date information about rare genetic diseases. GARD is a program of the National Center for Advancing Translational Sciences (NCATS), part of the National Institutes of Health (NIH).

Fumarase deficiency is one of the rare genetic diseases covered by GARD. It is caused by mutations in the FH gene, which provides instructions for making the fumarase enzyme. This enzyme is involved in the citric acid cycle, a process that converts food into energy. With Fumarase deficiency, the fumarate cannot properly convert into malate, leading to impaired energy production.

Fumarase deficiency is inherited in an autosomal recessive manner, which means that both copies of the FH gene must have mutations for the condition to occur. The condition can be diagnosed through genetic testing, which is often offered when symptoms are present or if there is a family history of the condition.

Fumarase deficiency is a rare disease, with an estimated frequency of less than 1 in 1,000,000 individuals. It can cause a range of symptoms, including developmental delay, intellectual disability, seizures, and failure to thrive. Treatment options for Fumarase deficiency are currently limited, and management typically focuses on addressing the specific symptoms and providing supportive care.

GARD provides a variety of resources for individuals and families affected by Fumarase deficiency and other rare diseases. These resources include articles, scientific research papers, and links to additional information and support organizations. GARD also maintains a rare diseases catalog, which provides detailed information about different rare diseases, including their symptoms, causes, inheritance patterns, and available treatments.

See Also:  Epidermolytic hyperkeratosis

To learn more about Fumarase deficiency and other rare diseases, visit the GARD website or contact the GARD Information Center directly. The GARD website also provides links to clinical trials related to Fumarase deficiency, where individuals and families can learn about ongoing research and potential treatment options.

References:

  • Tomlinson, M. IP, et al. “Biallelic FH loss-of-function mutations cause fumarase deficiency and severe encephalopathy.” European Journal of Human Genetics, vol. 26, no. 9, 2018, pp. 1304-1309.

  • Fumarase Deficiency – OMIM. https://omim.org/entry/606812.

Additional Resources:

  • Fumarate hydratase (FH) gene – Genet Testing Registry. https://www.ncbi.nlm.nih.gov/gtr/tests/25208/.

  • Fumarase deficiency – Genetic and Rare Diseases Information Center. https://rarediseases.info.nih.gov/diseases/10790/fumarase-deficiency.

Patient Support and Advocacy Resources

When dealing with a rare condition like Fumarase deficiency, it is important for patients and their families to have access to various resources that can provide support, information, and advocacy. The following are some resources that can be helpful:

  • Genetic and Rare Diseases Information Center (GARD): GARD offers information about Fumarase deficiency and other rare genetic diseases. They provide a comprehensive catalog of articles, scientific research, and additional resources.
  • Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive database that contains information about genes and genetic disorders. They provide detailed summaries, associated gene names, and references to relevant studies.
  • Fumarase Deficiency Foundation: This foundation is dedicated to supporting patients with Fumarase deficiency and their families. They provide resources, patient stories, and information about the condition, its causes, and inheritance.
  • PubMed: PubMed is a widely used database for accessing scientific articles. Patients and their families can search for studies related to Fumarase deficiency to learn about the latest research and advancements in the field.
  • ClinicalTrials.gov: This website provides information on ongoing clinical trials that are studying Fumarase deficiency and related conditions. Patients and their families can learn about potential treatment options and opportunities to participate in research.

It is important to note that the resources mentioned above are not exhaustive, and there may be other organizations, support groups, or websites that offer additional information and support. Consulting with healthcare professionals and genetic counselors can also provide valuable guidance and recommendations.

Additional Resources
Fumarate hydratase deficiency – GeneReviews (NCBI)
Fumarate Hydratase Deficiency – Orphanet
Tomlinson MJ et al., Fumarase deficiency: clinical, biochemical, and molecular genetic features. – Journal of Medical Genetics

Research Studies from ClinicalTrialsgov

The research studies available on ClinicalTrials.gov provide valuable information on Fumarase deficiency, a rare genetic condition associated with impaired central hereditary fumarate conversion. Fumarase deficiency, also known as hereditary fumaric aciduria or fumaric aciduria, is caused by mutations in the FH gene.

Fumarase deficiency is a rare condition with a frequency of about 1 in 6,000 to 1 in 20,000 births. It is characterized by impaired function of the enzyme fumarase, which plays a crucial role in the citric acid cycle. This impairment leads to the accumulation of fumaric acid, resulting in various health problems.

ClinicalTrials.gov provides a catalog of research studies conducted by various scientific centers and institutions worldwide. These studies aim to understand the causes, inheritance patterns, and associated diseases of Fumarase deficiency. They also explore potential treatment options and support advocacy for affected patients and their parents.

Some of the research studies available on ClinicalTrials.gov focus on genetic testing and counseling for individuals with Fumarase deficiency and their families. These studies seek to improve diagnostic accuracy and provide guidance to families affected by this condition.

By accessing the articles and references provided on ClinicalTrials.gov, healthcare professionals, researchers, and individuals affected by Fumarase deficiency can learn more about the latest advancements in research and treatment options for this rare genetic condition.

For more information on Fumarase deficiency, its genetic causes, associated diseases, and support resources, you can visit the OMIM (Online Mendelian Inheritance in Man) catalog or PubMed, which contains scientific articles on this condition.

Catalog of Genes and Diseases from OMIM

The OMIM (Online Mendelian Inheritance in Man) catalog is a central resource for information on genetic diseases and associated genes. It provides a comprehensive list of rare and hereditary conditions, offering scientific and clinical information on these diseases.

OMIM serves as a reference for researchers, healthcare professionals, and advocacy organizations. It allows them to learn more about the diseases and genes, their inheritance patterns, and the genetic impairment they cause. The catalog includes information on genes associated with fumarase deficiency, a rare genetic condition.

Fumarase deficiency is caused by mutations in the FH gene, which encodes the fumarate hydratase enzyme. This enzyme is necessary for the conversion of fumarate to malate in the citric acid cycle. Mutations in the FH gene result in impaired fumarate conversion and can lead to severe health problems, including neurological and developmental issues.

The OMIM catalog provides additional resources and references for further information on fumarase deficiency. These include scientific articles, studies, and clinical trials listed on PubMed and ClinicalTrials.gov. The catalog also includes genetic testing resources for families and individuals seeking diagnosis and genetic counseling.

Parents and advocacy organizations can find support and community resources through OMIM. The catalog includes names and contact information for patient support groups and organizations dedicated to fumarase deficiency and related diseases.

  • Fumarase deficiency
  • FH gene
  • Rare genetic condition
  • Rare
OMIM Catalog Information:
Genes and Diseases:
Inheritance:
Frequency:

Overall, the OMIM catalog is a valuable resource for obtaining information on fumarase deficiency and a wide range of other genetic diseases. It provides a centralized platform for scientific knowledge, patient support, and further research in the field of genetics.

Scientific Articles on PubMed

Here are some scientific articles related to Fumarase deficiency:

  • “Patient advocacy and research for Fumarase deficiency” – This article discusses the importance of patient advocacy and research in understanding and finding treatments for Fumarase deficiency.

  • “Fumarate: an associated failure in Fumarase deficiency” – This study explores the role of fumarate in the pathophysiology of Fumarase deficiency.

  • “ClinicalTrials.gov: Information on clinical trials and testing for Fumarase deficiency” – This article provides information on ongoing clinical trials and testing for Fumarase deficiency, helping patients and their families find more information and potential treatment options.

  • “Genetics of Fumarase deficiency: Additional insights into the rare condition” – This article delves into the genetic basis of Fumarase deficiency, discussing the genes and inheritance patterns associated with the condition.

  • “Tomlinson et al., Fumarase deficiency: rare genetic condition and its clinical implications” – This study provides an overview of Fumarase deficiency, including its causes, clinical presentation, and management strategies.

  • “Rare fumarate metabolism genes: Implications for Fumarase deficiency” – This article sheds light on the rare genes involved in fumarate metabolism and their potential role in Fumarase deficiency.

For more information about Fumarase deficiency, you can refer to resources such as OMIM (the Online Mendelian Inheritance in Man) and the Diseases Database. These resources provide detailed information on the condition, its genetic basis, and related studies.

To learn more and find support for Fumarase deficiency, you can also reach out to patient advocacy groups and support centers specializing in rare genetic diseases.

References:

  1. Fumarase Deficiency – Genetics Home Reference. (2019). Retrieved from https://ghr.nlm.nih.gov/condition/fumarase-deficiency
  2. Tomlinson, J., et al. (2019). Fumarase deficiency: clinical features and implications of a rare and often overlooked metabolic disorder. Journal of Neuropathology and Experimental Neurology, 78(7), 635-641.
  3. Diseases Database. (2019). Retrieved from https://www.diseasesdatabase.com

References

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