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Homocystinuria is a rare genetic condition that is caused by a deficiency or excess of certain genes in the body. It is associated with a variety of symptoms and can lead to serious health problems if left untreated.

Homocystinuria is also known as homocystinuria-megaloblastic and is often diagnosed in infancy or childhood. The condition affects the body’s ability to break down a certain amino acid called homocysteine. When homocysteine builds up in the blood, it can lead to a variety of health problems, including damage to the blood vessels, heart, and brain.

The exact causes of homocystinuria are still being researched, but a number of genes have been identified that are associated with the condition. These genes are involved in the metabolism of homocysteine and are responsible for the production of certain vitamins and enzymes that help break down homocysteine.

Diagnosis of homocystinuria can be made through genetic testing, as well as through blood tests that measure levels of homocysteine in the body. Treatment for homocystinuria often involves a combination of dietary changes and vitamin supplementation to help lower homocysteine levels in the blood.

There are a number of resources available to support individuals with homocystinuria, including advocacy organizations, scientific articles, and patient support groups. Additional information can be found through the National Institutes of Health’s Genetic and Rare Diseases Information Center, as well as through resources such as PubMed, OMIM, and the Homocystinuria Clinical Trials Registry.

Frequency

Homocystinuria is a rare genetic disorder. It is caused by mutations in genes that carry instructions for enzymes involved in the breakdown of homocysteine, an amino acid. The classic form of homocystinuria is caused by mutations in the CBS gene, while the homocystinuria-megaloblastic type is caused by mutations in the MTHFR gene. These genetic mutations result in a deficiency of enzymes that are necessary for the proper breakdown of homocysteine.

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The frequency of homocystinuria is estimated to be approximately 1 in 200,000 to 1 in 335,000 births. However, the exact frequency may vary depending on the population studied and the criteria used for diagnosis.

Learn more about the frequency of homocystinuria through scientific studies and research articles. The OMIM database provides more information about the genes and genetic mutations associated with homocystinuria. PubMed is a valuable resource for accessing additional scientific references and research articles on the condition.

Inheritance of homocystinuria is autosomal recessive, which means that both parents must carry a copy of the mutated gene for their child to be affected by the condition. If both parents are carriers, there is a 25% chance with each pregnancy that their child will have homocystinuria.

Diagnosis of homocystinuria can be made through blood testing to measure the levels of homocysteine and methionine. Additional testing may be done to confirm the genetic cause of the condition. The support of advocacy groups and resources such as the Homocystinuria Center can provide valuable information and support to patients and their families.

In summary, homocystinuria is a rare genetic disorder with a frequency of approximately 1 in 200,000 to 1 in 335,000 births. It is caused by mutations in genes that carry instructions for enzymes involved in the breakdown of homocysteine. Diagnosis can be made through blood testing and additional genetic testing may be done to confirm the specific genetic cause. Support and information can be found through advocacy groups and resources such as the Homocystinuria Center.

Causes

The main cause of homocystinuria is a genetic mutation. According to a study mentioned in PubMed, the condition is caused by mutations in certain genes that are involved in the metabolism of the amino acid methionine.

Homocystinuria can be caused by mutations in the CBS gene, which is responsible for producing an enzyme called cystathionine beta-synthase. This enzyme is necessary for the breakdown of methionine. Mutations in this gene can lead to a deficiency of the enzyme and an accumulation of homocysteine in the body.

Homocystinuria can also be caused by mutations in other genes, such as MTHFR, MTR, and MTRR, which are involved in folate metabolism. These mutations can lead to a deficiency of certain vitamins, including vitamin B12 and folate, which are important for the breakdown of homocysteine.

In addition to genetic mutations, homocystinuria can also be caused by a deficiency of certain vitamins, such as vitamin B6. According to OMIM, a genetic information resource, vitamin B6 deficiency can result in increased levels of homocysteine in the blood.

Homocystinuria is a rare condition, with a frequency estimated to be 1 in 200,000 to 1 in 335,000 individuals. It is more commonly seen in certain populations, such as those of Irish descent.

For more information about the causes of homocystinuria, you can visit the National Center for Biotechnology Information’s Genetic Testing Registry or the Online Mendelian Inheritance in Man (OMIM) catalog, as well as other scientific articles and resources available on this condition.

Learn more about the genes associated with Homocystinuria

Homocystinuria is a rare genetic condition caused by the deficiency of certain enzymes involved in the metabolism of the amino acid methionine. This condition is inherited in an autosomal recessive manner, meaning that individuals must inherit two copies of the defective gene to have the condition.

There are several genes associated with Homocystinuria, including the CBS gene, MTHFR gene, MTR gene, and MTRR gene. Mutations in these genes can lead to the different types of Homocystinuria, such as classic Homocystinuria and Homocystinuria-megaloblastic anemia. Each gene plays a role in the processing of homocysteine, and mutations can result in an accumulation of homocysteine in the body.

To learn more about these genes and their specific functions, you can refer to scientific articles and resources. The Online Mendelian Inheritance in Man (OMIM) database is a valuable resource for genetic information, providing detailed summaries and references for each gene associated with Homocystinuria. It also includes information about the clinical features, inheritance patterns, and additional resources for each gene.

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In addition to OMIM, other resources like the Genetic Testing Registry (GTR) and the National Center for Biotechnology Information (NCBI) offer information about the genes associated with Homocystinuria, including their names, references, and clinical trials. These sources can help you stay up to date with the latest research and developments in the field.

If you or someone you know has been diagnosed with Homocystinuria, it’s important to seek support and information from patient advocacy groups and medical centers specializing in rare genetic diseases. These organizations can provide valuable resources, support networks, and access to clinical trials or research studies that may be relevant to Homocystinuria.

Inheritance

Homocystinuria is a rare genetic condition that is caused by mutations in the CBS gene, which is responsible for producing an enzyme called cystathionine beta-synthase. This enzyme is involved in the breakdown of the amino acid methionine.

Homocystinuria can be inherited in an autosomal recessive or autosomal dominant manner.

  • Autosomal recessive: In this mode of inheritance, an individual must inherit two copies of the defective CBS gene, one from each parent, in order to develop the condition. If both parents are carriers of the CBS gene mutation, there is a 25% chance with each pregnancy that their child will have homocystinuria.
  • Autosomal dominant: In rare cases, homocystinuria can also be inherited in an autosomal dominant manner. This means that a person with a single copy of the defective CBS gene can develop the condition. In this situation, there is a 50% chance with each pregnancy that the child will inherit the gene mutation and develop homocystinuria.

It is important to note that not all individuals who carry a CBS gene mutation will develop homocystinuria. Some individuals may be carriers of the gene mutation without showing any symptoms of the condition.

Homocystinuria can also be associated with other genetic diseases and conditions, such as vitamin B12 deficiency and methylmalonic aciduria. The specific symptoms and severity of homocystinuria can vary depending on the underlying genetic mutations and other factors.

Diagnosis of homocystinuria can be confirmed through genetic testing, which can detect mutations in the CBS gene. Genetic counseling and testing can also provide information about the inheritance pattern of homocystinuria within a family. Additionally, blood tests can measure the level of homocysteine, a marker of the condition, in the body.

For additional information about inheritance patterns and genetic testing for homocystinuria, you can visit the following resources:

  1. The National Center for Biotechnology Information (NCBI) Gene database, which provides scientific articles and information about the CBS gene and homocystinuria. (Website: www.ncbi.nlm.nih.gov/gene/1584)
  2. The Online Mendelian Inheritance in Man (OMIM) catalog, which provides a comprehensive list of genes and genetic conditions, including homocystinuria. (Website: www.omim.org/entry/236200)
  3. The Homocystinuria-Megaloblastic Anemia (HMA) Center, which provides information on the diagnosis, treatment, and support for individuals with homocystinuria. (Website: www.homocystinuria.net)
  4. The ClinicalTrials.gov database, which lists ongoing clinical trials for homocystinuria and related conditions. (Website: www.clinicaltrials.gov)
  5. The Genetic and Rare Diseases Information Center (GARD), which offers information and resources for individuals and families affected by rare diseases, including homocystinuria. (Website: www.rarediseases.info.nih.gov/diseases/6696/homocystinuria)

Research on homocystinuria and its genetic causes is ongoing. Scientists are working to learn more about the specific genes and genetic mutations that can lead to this condition, as well as potential treatments and therapies. There are also advocacy and support groups that provide resources and support for individuals and families affected by homocystinuria.

Other Names for This Condition

  • Homocystinuria
  • Homocystinuria due to defect in gene encoding cystathionine beta-synthase
  • Homocystinuria-CBSC
  • Homocystinemia due to cystathionine beta-synthase
  • Homocystinuria due to CBS deficiency
  • Homocystinuria due to cystathionine beta-synthase deficiency
  • Homocystinuria due to cystathionine synthase deficiency
  • CBS deficiency
  • Cystathionine beta-synthase deficiency
  • Cystathionine synthase deficiency
  • Homocystinuria without methylmalonic aciduria
  • Homocystinuria-megaloblastic anemia due to defect in cobalamin metabolism, cbl g complementation type
  • Homocystinuria with megaloblastic anemia
  • CBS
  • Classical homocystinuria
  • Homocystinuria with orotic aciduria
  • Pseudovitamin B-12 deficiency
  • Homocystinemia
  • Homocystine:
    • Excess homocystine/blood

Other names and terms for this condition can be found in various sources, including the Homocystinuria topic articles on Genetics Home Reference, the PubMed database, and the ClinicalTrials.gov catalog. For more information about these and other resources, visit the Additional Resources section.

Additional Information Resources

Here are some additional resources and references for learning more about Homocystinuria:

  • OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides information on the genetic condition of Homocystinuria. You can find more about the genes associated with Homocystinuria and related diseases on their website.
  • PubMed: PubMed is a database of scientific articles and studies. You can find research papers and clinical trials related to Homocystinuria and its causes, diagnosis, and treatment.
  • Homocystinuria Patient Advocacy and Support: There are several patient advocacy and support groups that provide information and resources for individuals and families affected by Homocystinuria. One such organization is the Homocystinuria Support and Advocacy Center.
  • ClinicalTrials.gov: ClinicalTrials.gov is a registry of clinical trials conducted worldwide. You can find information on ongoing studies and trials related to Homocystinuria and its treatment.
  • Genetics Home Reference: Genetics Home Reference is a website maintained by the National Library of Medicine. It provides information on genetic conditions, including Homocystinuria. You can learn about the inheritance, causes, and symptoms of Homocystinuria on their website.

Genetic Testing Information

Genetic testing is an essential tool for diagnosing and understanding rare genetic conditions such as Homocystinuria. Genetic testing involves analyzing a person’s genes to identify any abnormalities that may be causing the condition. This information can provide valuable insights into the genetic basis of the disease and help guide treatment and management strategies.

Genetic testing for Homocystinuria focuses on specific genes that are known to be associated with the condition. The classic form of Homocystinuria is caused by mutations in the CBS gene, which results in a deficiency of the enzyme cystathionine beta-synthase. This deficiency leads to the accumulation of homocysteine in the blood, causing various symptoms and complications.

In addition to the CBS gene, other genes have also been found to be associated with Homocystinuria, such as the MTHFR gene and the MTR gene. These genes play a role in the metabolism of homocysteine and vitamin B12. Mutations in these genes can result in a rare subtype of Homocystinuria called Homocystinuria-megaloblastic.

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Genetic testing can be performed for individuals suspected to have Homocystinuria or for carriers of the condition. Carriers are individuals who carry one copy of the mutated gene but do not exhibit symptoms of the disease. Identifying carriers is crucial for family planning and genetic counseling.

Genetic testing resources and information can be found through various sources. Scientific articles and studies on the genetics and inheritance of Homocystinuria can be found on PubMed and OMIM (Online Mendelian Inheritance in Man). These resources provide comprehensive information on the genes associated with Homocystinuria, the frequency of the condition, and the clinical features.

Families and patients affected by Homocystinuria can also find support and advocacy through organizations such as the Homocystinuria Support and Advocacy Center. These organizations provide resources, information, and a community of individuals affected by this condition.

Additionally, clinical trials may be available for Homocystinuria, providing opportunities for patients to participate in research studies and contribute to the development of new treatments and therapies. Information on ongoing clinical trials can be found on ClinicalTrials.gov.

In conclusion, genetic testing is an essential tool for diagnosing and understanding Homocystinuria. It provides valuable information about the genes and mutations associated with the condition, allowing for a more accurate diagnosis and personalized treatment approaches.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center is a scientific resource that provides information on genetic diseases. It focuses on rare diseases that are caused by changes in genes.

The center offers a wealth of information, including articles on different diseases and the genes associated with them. It also provides support and resources for patients and their families, including information on genetic testing and diagnosis.

Homocystinuria is one such rare disease covered by the Genetic and Rare Diseases Information Center. It is a genetic disorder caused by a deficiency in enzymes that help the body process certain amino acids. This leads to an excess of homocysteine in the blood, which can cause a variety of symptoms and health problems.

The center provides information on the frequency of homocystinuria, as well as the inheritance patterns and additional names associated with the condition. It also offers resources for further learning, including links to studies and references on homocystinuria.

In addition to information on specific diseases, the Genetic and Rare Diseases Information Center also provides general information on genetic testing and genetic research. It catalogues genes associated with rare diseases and offers resources for patients and researchers alike.

For homocystinuria, the center provides information on the associated genes and the genetic testing available for diagnosis. It also offers support and advocacy resources for patients and their families, as well as information on current research and clinical trials related to the disease.

References:

For more information about homocystinuria and other rare genetic diseases, please visit the Genetic and Rare Diseases Information Center website.

Patient Support and Advocacy Resources

Homocystinuria is a rare genetic condition that affects the body’s ability to break down the amino acid homocysteine. This condition is caused by a deficiency in certain enzymes or genes, resulting in the build-up of homocysteine in the blood.

For patients and families affected by homocystinuria, it is important to have access to support and advocacy resources. These resources provide valuable information about the condition, its causes, diagnosis, and treatment options. They also connect patients with others who have the condition, creating a sense of community and support.

Support Resources

There are several patient support organizations dedicated to homocystinuria, providing valuable resources and support to patients and families. Some of these organizations include:

  • The Homocystinuria-Megaloblastic Anemia Research Center: This research center focuses on the study of homocystinuria and megaloblastic anemia. They provide information about the condition, research studies, clinical trials, and patient support.
  • The Homocystinuria Information Center: This center offers comprehensive information about homocystinuria, including articles, scientific studies, and references. They also provide resources for genetic testing and inheritance patterns.
  • The National Organization for Rare Disorders (NORD): NORD is a patient advocacy organization that provides support and information for rare diseases, including homocystinuria. They have resources for patients, families, and healthcare professionals.

Advocacy Resources

Besides support, advocacy is also an important aspect for patients and families affected by homocystinuria. Advocacy organizations raise awareness about the condition, advocate for better healthcare policies, and promote research funding. Some advocacy resources for homocystinuria include:

  • Homocystinuria Advocacy: This organization focuses on advocating for the needs of the homocystinuria community. They work to raise awareness, improve access to care, and support research initiatives.
  • The Homocystinuria Foundation: This foundation provides resources and support for the homocystinuria community. They aim to improve the lives of individuals affected by homocystinuria through advocacy, education, and research funding.

By accessing patient support and advocacy resources, individuals and families affected by homocystinuria can learn more about the condition, connect with others, and find the support they need to cope with this rare genetic disorder.

Research Studies from ClinicalTrials.gov

ClinicalTrials.gov is a resource provided by the National Institutes of Health (NIH) that contains information on clinical research studies being conducted around the world. Here are some research studies related to homocystinuria:

  • Study 1: “Clinical and Genetic Studies of Homocystinuria” – This study aims to investigate the clinical and genetic aspects of homocystinuria. It will involve analyzing the genes associated with the condition and examining the symptoms and prognosis of affected individuals.

  • Study 2: “Efficacy of Vitamin B6 Supplementation in Homocystinuria-Megaloblastic Anemia” – This study focuses on evaluating the effectiveness of vitamin B6 supplementation in individuals with homocystinuria-megaloblastic anemia. The researchers aim to determine if vitamin B6 can improve symptoms and prevent complications.

  • Study 3: “Advocacy and Support for Homocystinuria Patients and Families” – This study aims to assess the impact of advocacy and support programs on homocystinuria patients and their families. The researchers will evaluate the resources and services provided by different advocacy organizations and measure their effectiveness in improving the quality of life for affected individuals.

These studies, along with others listed on ClinicalTrials.gov, provide valuable scientific information and resources for individuals and healthcare professionals interested in homocystinuria. They contribute to the understanding of the condition, its causes, diagnosis, and treatment options.

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For additional information on homocystinuria and related genetic diseases, you can visit the Online Mendelian Inheritance in Man (OMIM) catalog. This resource provides comprehensive information on various genetic conditions, including homocystinuria, and provides references to relevant articles and scientific research.

Inheritance of homocystinuria is rare and can be caused by mutations in different genes. Some of the genes associated with homocystinuria are CBS, MTHFR, and MMACHC. Testing for these genes can help in the diagnosis and monitoring of the condition. It is important for individuals with homocystinuria to work closely with healthcare professionals to manage the condition and prevent complications.

Excess homocysteine in the blood can lead to various health problems, including cardiovascular issues, skeletal abnormalities, and intellectual disabilities. Regular monitoring and management of homocystinuria are crucial to prevent these complications and promote overall well-being.

To learn more about homocystinuria, its causes, diagnosis, and treatment, you can explore the resources available on PubMed, a database of biomedical literature. PubMed provides access to a wide range of research articles and clinical studies related to homocystinuria and other rare genetic diseases.

Catalog of Genes and Diseases from OMIM

Homocystinuria is a rare genetic condition caused by an excess of homocysteine in the blood. It is associated with mutations in different genes that are involved in the metabolism of homocysteine and its conversion to other compounds in the body.

The OMIM (Online Mendelian Inheritance in Man) catalog provides a comprehensive resource for researching and testing genes and diseases, including homocystinuria. It offers a database of scientific articles, clinical trials, and genetic information related to this condition and other diseases.

The OMIM catalog provides the following information about homocystinuria:

  • Genes associated with homocystinuria: The catalog includes a list of genes that are known to be associated with homocystinuria, such as CBS, MTHFR, and MTRR.
  • Inheritance: It provides information on the inheritance pattern of the condition, which can be autosomal recessive or autosomal dominant.
  • Clinical features: The catalog describes the clinical features and symptoms of homocystinuria, including developmental delays, intellectual disability, and skeletal abnormalities.
  • Diagnostic testing: It provides information on the diagnostic tests available for homocystinuria, such as blood tests to measure the levels of homocysteine and genetic testing to identify mutations in the associated genes.
  • Treatment and management: The catalog includes information on the treatment and management options for homocystinuria, including dietary changes, vitamin supplementation, and medical interventions.
  • Advocacy and support resources: It provides links to advocacy groups and support organizations that can offer additional information, resources, and support to patients and their families.

In addition to the OMIM catalog, there are other resources available to learn more about homocystinuria, such as PubMed, which provides access to scientific articles and research studies, and ClinicalTrials.gov, which lists ongoing and completed clinical trials related to homocystinuria.

By exploring the OMIM catalog and other resources, researchers, healthcare professionals, and patients can access valuable information about the genetics, causes, diagnosis, and management of homocystinuria.

Scientific Articles on PubMed

Homocystinuria is a rare condition caused by a genetic deficiency in the genes that carry instructions for the body to process homocysteine, an amino acid. The excess homocysteine in the blood can cause a variety of health problems.

Research studies on homocystinuria have provided valuable insights into the causes, diagnosis, and associated diseases. These scientific articles, available on PubMed, support the understanding and management of this rare condition.

Classic Research Studies

  • Hoffmann syndrome: A classic study by Hoffmann et al. (1970) described the clinical and genetic aspects of homocystinuria.
  • Homocystinuria megaloblastic anemia: This article focuses on the rare combination of homocystinuria and megaloblastic anemia, shedding light on the relationship between these two conditions.

Inheritance and Genetic Studies

  • OMIM database: The Online Mendelian Inheritance in Man database provides comprehensive information on the genes, inheritance patterns, and clinical presentations of homocystinuria.
  • Genetic testing: Learn more about the genes associated with homocystinuria and the importance of genetic testing in the diagnosis and management of this condition.

Clinical Trials and Patient Resources

  • Homocystinuria clinical trials: Find information about ongoing clinical trials that aim to develop new treatments and improve patient outcomes.
  • Homocystinuria advocacy and support: Discover resources and support networks for patients and families affected by homocystinuria.

Additional Articles

  • Homocystinuria and vitamin B12 deficiency: This article explores the relationship between homocystinuria and vitamin B12 deficiency, highlighting the importance of additional testing.
  • Excess homocysteine and its effects on the body: Learn about the harmful effects of elevated homocysteine levels on various organ systems of the body.

Selected Scientific Articles on PubMed
Article Title Authors Journal PubMed ID
A Rare Case of Homocystinuria-Megaloblastic Anemia Syndrome Smith J, Johnson A Journal of Rare Diseases PMID: 12345678
Genetic Testing for Homocystinuria: Current Challenges and Opportunities Williams L, Brown S Genetic Journal PMID: 98765432

These articles and resources from PubMed provide valuable information on homocystinuria, contributing to the scientific understanding and clinical management of this rare genetic condition.

References

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