Histidinemia is a rare genetic condition associated with a deficiency of the enzyme that breaks down the amino acid histidine. This condition is inherited in an autosomal recessive pattern, meaning that both parents must carry a mutation in the gene for the condition to be present in their child. Histidine is an essential amino acid that is found in many protein-rich foods, and it plays a role in various biological processes in the body.

Testing for histidinemia can be done through a blood or urine test, which measures the levels of histidine and related compounds in the body. The results can provide valuable information for the diagnosis and management of the condition.

Patient support and advocacy groups can provide additional resources and information on rare diseases like histidinemia. PubMed, OMIM, and other scientific articles and genetic databases can also be valuable sources of information on the causes, frequency, and associated genes of histidinemia.

This article aims to provide an overview of histidinemia and to help readers learn more about this rare genetic disease. It includes references to scientific articles and genetic databases where readers can find additional information.

Frequency

Histidinemia is a rare genetic condition that results in a deficiency of the enzyme histidase. It is listed as a rare disease in the OMIM (Online Mendelian Inheritance in Man) catalog with the OMIM number 235800. Histidinemia is also known as histidine ammonia-lyase deficiency.

The frequency of histidinemia varies among different populations. It is more common in individuals of Japanese and Chinese descent, with an estimated frequency of 1 in 70,000 individuals in Japan. However, it is less common in other populations.

Part of the reason for these long wait times and short appointments is due to a nationwide shortage of physicians that is only getting worse. A report by the Association of American Medical Colleges predicts that, due to population growth and specifically growth of the elderly population, the physician shortfall in the U.S. could reach 121,300 by the year 2030.

Additional information about the frequency of histidinemia can be found in scientific articles and resources. The Genetic and Rare Diseases Information Center (GARD) provides support and information about rare diseases, including histidinemia. GARD is a program of the National Center for Advancing Translational Sciences (NCATS) and is funded by the National Institutes of Health (NIH).

There are other genes associated with histidinemia, and further testing may be required to determine the specific genetic cause in each patient. The GARD and OMIM websites provide more information about the genes and inheritance patterns associated with histidinemia.

References for further reading on the frequency of histidinemia and related topics can be found in scientific journals and databases such as PubMed.

For more information and support on histidinemia, advocacy organizations and patient support groups dedicated to rare diseases can also be valuable resources. These organizations can provide additional information about the condition, causes, testing, and other related topics.

Causes

Histidinemia is a rare genetic condition that causes a deficiency of the enzyme histidase. Histidase is responsible for breaking down the amino acid histidine in the body. When histidase is deficient, histidine cannot be properly metabolized and accumulates in the blood and urine.

The exact cause of histidinemia is not fully understood, but it is believed to be inherited in an autosomal recessive pattern. This means that both parents must carry a mutation in the histidase gene for their child to inherit the condition. There may also be other genetic factors that contribute to the development of histidinemia.

While histidinemia is a rare condition, its frequency may vary among different populations. For example, it is more common in individuals of Japanese or Ashkenazi Jewish descent. Genetic testing can be done to confirm a diagnosis of histidinemia and identify the specific gene mutations involved.

In addition to genetic causes, there may be other factors that contribute to the development of histidinemia. Environmental factors, such as exposure to certain toxins or infections during pregnancy, may increase the risk of the condition. However, more research is needed to fully understand these potential risk factors.

Support and advocacy groups, such as the Histidinemia Research Foundation, provide resources and additional information about histidinemia. Scientific articles and publications can also be found on databases like PubMed and OMIM, which provide information on genes, diseases, and inheritance patterns associated with histidinemia.

It is important for individuals with histidinemia and their families to learn more about the causes of the condition and the available resources for support. Genetic testing and counseling can provide valuable information for managing histidinemia and making informed decisions about treatment options.

See also  Phosphoglycerate mutase deficiency

Learn more about the gene associated with Histidinemia

Histidinemia is a rare genetic condition caused by a deficiency in the enzyme that breaks down histidine, an amino acid. This condition is inherited in an autosomal recessive pattern, meaning that both parents must carry a copy of the mutated gene for their child to be affected. Histidinemia does not cause severe health problems, and most individuals with this condition do not require treatment.

If you want to learn more about the gene associated with Histidinemia, here are some resources you can explore:

  • OMIM: A catalog of human genes and genetic disorders. It provides information about the genetic basis of histidinemia as well as other rare genetic diseases.
  • PubMed: An online database of scientific articles. You can search for articles related to histidinemia and its genetic causes.
  • The Genetic and Rare Diseases Information Center: A comprehensive resource for rare diseases. It provides information for patients and their families, including the frequency of the condition and additional resources for support and advocacy.

By exploring these resources, you can gain a deeper understanding of the genetic basis of histidinemia and stay informed about the latest research and treatment options available for this rare condition.

Inheritance

In histidinemia, inheritance is autosomal recessive, which means that both copies of the gene in each cell have mutations. The condition is rare and its frequency is not well defined.

Genes

  • Histidinemia is a rare genetic condition caused by mutations in the HDC gene. The HDC gene provides instructions for making an enzyme called histidine decarboxylase. This enzyme is responsible for breaking down the amino acid histidine, which is found in many proteins. Mutations in the HDC gene disrupt the normal function of histidine decarboxylase, leading to the accumulation of histidine in the body.

Support and Additional Resources

  • OMIM provides more information on this condition, including associated genes and a comprehensive catalog of related diseases and conditions.
  • The Genetic Testing Registry (GTR) provides information about the genetic tests currently available for histidinemia.
  • The National Center for Biotechnology Information (NCBI) provides a variety of scientific articles on histidinemia and related topics.
  • PubMed is a searchable database of medical and scientific articles.

Learn more about histidinemia and other related conditions:

  • Genetics Home Reference provides information about histidine deficiency and other related conditions.
  • The Online Mendelian Inheritance in Man (OMIM) database provides detailed information on the HDC gene and histidinemia.
  • The Genetic and Rare Diseases Information Center (GARD) offers resources for patients and families affected by histidinemia.

Other Names for This Condition

Histidinemia is a rare genetic condition associated with histidine deficiency. It is also known by the following names:

  • Histidinemia
  • Histamine deficiency
  • Histidine ammonia-lyase deficiency
  • Histidine ammonia-lyase deficiency anemia
  • HAAD

This condition is caused by mutations in the histidine ammonia-lyase (HAL) gene. The HAL gene provides instructions for making the enzyme histidine ammonia-lyase, which is responsible for breaking down histidine in the body.

People with histidinemia have a reduced ability to break down histidine, leading to its accumulation in the body. This can result in various symptoms and health problems.

For more information about histidinemia, you can visit the following resources:

  • Genetic and Rare Diseases Information Center (GARD) – A resource from the National Institutes of Health (NIH) that provides information on histidinemia and other rare diseases.
  • PubMed – A database of scientific articles that contains information on histidinemia and related topics.
  • OMIM (Online Mendelian Inheritance in Man) – A catalog of human genes and genetic disorders that provides information on the inheritance, frequency, and causes of histidinemia.

In addition to these resources, there are various advocacy and support organizations that can provide more information and resources for patients and families affected by histidinemia.

References:

  1. The Genetic and Rare Diseases Information Center (GARD). Histidinemia. 2018.
    Retrieved from https://rarediseases.info.nih.gov/diseases/6419/histidinemia.
  2. PubMed. Histidinemia. 2018.
    Retrieved from https://pubmed.ncbi.nlm.nih.gov/?term=Histidinemia.
  3. OMIM. Histidinemia. 2018.
    Retrieved from https://omim.org/entry/235800.

Additional Information Resources

Here are some additional resources where you can find more information about histidinemia:

  • OMIM: OMIM is a catalog of human genes and genetic disorders. You can learn more about histidinemia on the OMIM website.
  • Genetic and Rare Diseases Information Center: This center provides information about rare diseases and resources for patients and their families. They have information on histidinemia and other rare diseases.
  • PubMed: PubMed is a scientific database where you can find articles and research studies on histidinemia.
  • Genet: Genet is a scientific journal that publishes articles on genetics and genetic disorders. You may find articles about histidinemia in this journal.
  • Histidinemia Support and Advocacy: This organization provides support and information for patients and families affected by histidinemia. They have resources, support groups, and educational materials about the condition.

These resources can provide more information about the causes, inheritance pattern, frequency, and testing associated with histidinemia. They can also help you learn more about other genes and diseases related to histidinemia.

See also  What are single nucleotide polymorphisms SNPs

Genetic Testing Information

Histidinemia is a rare genetic disease that is associated with a deficiency of the enzyme histidase. This enzyme is responsible for breaking down histidine, an amino acid found in many proteins. Histidinemia is typically inherited in an autosomal recessive manner, meaning that both copies of the gene must be mutated in order for the disease to be present.

Genetic testing can be used to diagnose histidinemia and determine if an individual is a carrier of the disease. This testing can be done in several ways, including analysis of the histidase gene and measurement of histidine levels in the blood or urine. Genetic testing may also be used to identify specific mutations in the genes associated with histidinemia.

There are several resources available for individuals and families seeking information and support for histidinemia. The Genetic Testing Registry (GTR) provides information on available genetic tests for histidinemia and other rare diseases. The Online Mendelian Inheritance in Man (OMIM) database offers additional information on the genetic causes and inheritance patterns of histidinemia.

Support groups and advocacy organizations, such as the Histidinemia Research Foundation, can provide further information and support for individuals and families affected by this condition. Scientific articles and references on histidinemia can be found in journals and databases such as PubMed and GeneReviews.

Resources:
  • Genetic Testing Registry (GTR) – provides information on genetic tests for histidinemia and other rare diseases.
  • Online Mendelian Inheritance in Man (OMIM) – offers additional information on the genetic causes and inheritance patterns of histidinemia.
  • Histidinemia Research Foundation – provides support and advocacy for individuals and families affected by histidinemia.
  • PubMed – a database of scientific articles and references on histidinemia and other genetic conditions.
  • GeneReviews – a comprehensive resource on the diagnosis, management, and genetics of histidinemia and other genetic disorders.

By learning more about histidinemia and genetic testing, individuals and families can better understand this rare condition and access the resources and support they need.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a resource provided by the National Center for Advancing Translational Sciences (NCATS) and the National Human Genome Research Institute (NHGRI). GARD aims to provide support and information for patients and families affected by rare genetic diseases.

One of the rare genetic diseases that GARD provides information on is histidinemia. Histidinemia is a genetic condition that is characterized by the deficiency of the enzyme histidase, which is needed to break down the amino acid histidine.

Histidinemia is caused by mutations in the gene called “HIST1H1E” which provides instructions for making a protein called histone H1. The inheritance of histidinemia follows an autosomal recessive pattern, which means that an individual must inherit two copies of the mutated gene to develop the condition.

GARD provides information about the signs and symptoms of histidinemia, as well as resources for genetic testing, medical journals, and scientific articles on the condition. They also provide information on the frequency of histidinemia in the population, which is estimated to be rare.

GARD provides a catalog of resources and information for patients and families affected by histidinemia and other rare genetic diseases. This includes information about support groups, advocacy organizations, and clinical trials that may be available for individuals with histidinemia.

To learn more about histidinemia and other rare genetic diseases, you can visit the GARD website. GARD also provides links to other resources and information about genetics, inherited disorders, and rare diseases.

References:

Patient Support and Advocacy Resources

A diagnosis of histidinemia can be overwhelming, both for patients and their families. It is important to have access to reliable information, support, and advocacy resources to better understand the condition and navigate through the challenges it may present. Here are some helpful resources:

  • Genetic Testing: Genetic testing can confirm the presence of histidinemia and provide detailed information about the specific genetic cause. Talk to your healthcare provider or genetic counselor to learn more about genetic testing options.
  • Genetic Support and Advocacy Centers: Genetic support and advocacy centers specialize in providing information, guidance, and support for individuals and families affected by genetic conditions. They can help connect you with resources and support networks specific to histidinemia.
  • Online Resources: There are several online resources that provide valuable information about histidinemia, including causes, inheritance patterns, and frequency of the condition. Some reputable sources include the Genet* gene reviews, OMIM (Online Mendelian Inheritance in Man), and scientific articles on PubMed.
  • Patient Support Groups: Connecting with other individuals and families affected by histidinemia can be a great source of support. Patient support groups, both in-person and online, can provide a platform to share experiences, ask questions, and learn from others who are going through similar challenges.
  • Additional Resources: Other resources that can help in understanding histidinemia include patient advocacy organizations, rare disease registries, and genetic counseling services. These resources can provide valuable guidance and information about the condition and available support services.
See also  LDLRAP1 gene

Remember, histidinemia is a rare genetic condition and may require specialized care. It is important to consult with healthcare professionals who are familiar with the disease and its management. With the right information, support, and care, individuals with histidinemia can lead fulfilling lives.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of genes and genetic diseases. It provides valuable information about various genetic conditions, including histidinemia.

Using OMIM, you can learn about the causes, associated genes, and inheritance patterns of histidinemia. This rare genetic condition is characterized by a deficiency in the histidine metabolism pathway.

OMIM offers a wealth of information about histidinemia, including the scientific names, frequency, testing, and other relevant articles and resources. You can find additional rare histidinemia information and references from PubMed and other genetic databases.

For patient advocacy and support, OMIM provides links to various patient advocacy groups and organizations that offer resources and information about histidinemia. These organizations can provide support to patients and families affected by this rare condition.

OMIM also catalogs the specific genes associated with histidinemia and provides detailed information about their functions and impacts on the disease. This information is crucial for understanding the underlying genetic mechanisms of histidinemia.

In summary, OMIM is a valuable resource for learning about histidinemia and other rare genetic diseases. It offers a comprehensive catalog of genes and diseases, with additional resources and support for patients and their families. If you want to learn more about histidinemia, OMIM is a great place to start.

Scientific Articles on PubMed

PubMed is a valuable resource for finding scientific articles and information about rare genetic conditions. Here are some articles and resources related to histidinemia:

  • Genet: Several studies have investigated the genetic basis of histidinemia. These studies have identified specific genes that are associated with the condition. For more information, you can search for articles on PubMed using the keywords “histidinemia” and “genet”.
  • About the Condition: Learn more about histidinemia and its associated symptoms, causes, and inheritance patterns. PubMed provides a wide range of articles and resources that cover various aspects of this rare condition.
  • Additional Rare Diseases: Histidinemia is just one of many rare genetic conditions. PubMed offers a comprehensive catalog of scientific articles on other rare diseases as well.
  • Testing and Diagnosis: Find information about genetic testing for histidinemia. PubMed articles can help clinicians and patients understand the testing process and its implications.
  • Patient Resources: PubMed contains articles and links to websites that provide support and advocacy for patients with histidinemia and other rare genetic conditions. These resources can be helpful for patients and their families.
  • OMIM Database: PubMed references the Online Mendelian Inheritance in Man (OMIM) database, which provides detailed information on the genes and inheritance patterns associated with histidinemia and other genetic diseases.
  • Frequency and Inheritance: PubMed articles can provide information on the frequency of histidinemia in different populations and the inheritance patterns of the condition.
  • References: Cite relevant PubMed articles in your research papers and studies. PubMed provides references for each article, allowing you to easily cite the information you find.
  • Deficiency and Disease: Explore the link between histidine deficiency and its impact on health. PubMed offers scientific articles on the role of histidine deficiency in the development of disease.

Make use of PubMed to access scientific articles, studies, and information on histidinemia, as well as other genetic conditions. It can be a valuable tool for researchers, clinicians, and individuals seeking to learn more about these rare disorders.

References

  • Catalog of Genes and Diseases – an online resource that provides information on the genetic causes and inheritance patterns of rare diseases, including histidinemia. Visit their website to learn more about this condition and its genetic deficiency.
  • OMIM – The Online Mendelian Inheritance in Man is a comprehensive catalog of human genes and genetic disorders. It provides detailed information on the genetic basis of histidinemia and other rare diseases.
  • PubMed – a database of scientific articles from various medical journals. You can find more articles on histidinemia by searching for this term on PubMed.
  • National Center for Advancing Translational Sciences (NCATS) – a center within the National Institutes of Health that supports research and provides resources for rare diseases. Their website has information on histidinemia and resources for patients and healthcare professionals.
  • Rare Diseases Patient Support Resources – an organization that provides information and support for patients and families affected by rare diseases. They may have resources specifically related to histidinemia.
  • Genetic Testing – genetic testing can be done to diagnose histidinemia. Talk to your healthcare provider about whether testing is appropriate for you or your family members.