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Alkaptonuria is a rare genetic condition that affects the body’s ability to break down certain amino acids. It is associated with a buildup of a substance called homogentisic acid, which can accumulate in various tissues and organs throughout the body. This can result in a range of symptoms and complications, including dark urine, joint and connective tissue problems, and heart disease.

Alkaptonuria is caused by mutations in the HGD gene, which provides instructions for producing an enzyme called homogentisate 1,2-dioxygenase. This enzyme is involved in the breakdown of homogentisic acid. When the HGD gene is mutated, the enzyme is not produced correctly, leading to a buildup of homogentisic acid in the body.

The inheritance pattern of alkaptonuria is autosomal recessive, which means that both copies of the HGD gene must be mutated for a person to develop the condition. If both parents carry a mutation in the HGD gene, there is a 25% chance with each pregnancy that their child will inherit two mutated copies and be affected by alkaptonuria.

There are currently no specific treatments for alkaptonuria. Management focuses on alleviating symptoms and preventing complications. Nonsteroidal anti-inflammatory drugs (NSAIDs) may be used to manage joint pain and inflammation, and various surgical procedures may be necessary to address joint and connective tissue problems. More research and clinical trials are needed to better understand the condition and develop more targeted interventions.

For more information about alkaptonuria, resources and support can be found through organizations such as the Alkaptonuria Society and the National Organization for Rare Disorders (NORD). These organizations provide educational materials, connect patients and families with each other, and support research into the condition. Additional information can also be found through scientific articles, research studies, and databases such as OMIM and PubMed.

Frequency

Alkaptonuria is a rare genetic condition that affects about 1 in 250,000 to 1 in 1,000,000 people worldwide. It is caused by mutations in the HGD gene.

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Information about Alkaptonuria can be found on various resources, including genetic testing and research centers. Some of these resources include:

  • Online Mendelian Inheritance in Man (OMIM) – This is a catalog of known genetic diseases and their associated genes. It provides additional information about Alkaptonuria, including scientific references and clinical trial information.
  • Genetic and Rare Diseases Information Center (GARD) – GARD is a resource provided by the National Institutes of Health (NIH). It provides information about genetic conditions, including Alkaptonuria. GARD also provides links to other resources and advocacy organizations.
  • ClinicalTrials.gov – This is a database of clinical trials that are currently ongoing or recruiting participants. It can be used to find clinical trials related to Alkaptonuria.

Alkaptonuria is considered a rare condition, and there is limited information available about its frequency in different populations. However, it is believed to be more common in certain populations, such as those of Slovak and Dominican Republic descent.

For more information about Alkaptonuria, including its causes, inheritance pattern, and clinical features, please visit the above-mentioned resources and connect with patient advocacy groups or research centers specializing in this condition.

Causes

Alkaptonuria is a rare genetic condition caused by mutations in the HGD gene. The HGD gene provides instructions for making an enzyme called homogentisate 1,2-dioxygenase. This enzyme is involved in the breakdown of an amino acid called phenylalanine. When the HGD gene is mutated, the enzyme is not produced in sufficient quantities or is not functional, leading to a buildup of a substance called homogentisic acid.

This buildup of homogentisic acid in the body causes the characteristic features of alkaptonuria. It affects the connective tissues, resulting in a darkening of the urine, discoloration of the skin, and abnormalities in the joints and spine. The homogentisic acid can also accumulate in other tissues, leading to additional symptoms and complications.

Alkaptonuria is inherited in an autosomal recessive manner, which means that an individual must inherit two copies of the mutated HGD gene in order to develop the condition. One copy of the mutated gene is inherited from each parent, who are typically unaffected carriers of the condition.

Research on alkaptonuria is ongoing, and additional genes may be associated with the condition. Studies are being conducted to better understand the genetic basis of alkaptonuria and to develop improved treatments. Genetic information can be found in resources such as OMIM, the genetic information catalog, and clinicaltrials.gov.

For more information about alkaptonuria, rare diseases, and genetic advocacy, resources such as the scientific center articles, PubMed, and patient support groups can be helpful references. Clinicaltrials.gov is also a valuable resource for finding ongoing research and clinical trials related to alkaptonuria.

Learn more about the gene associated with Alkaptonuria

Alkaptonuria is a rare genetic condition that affects the metabolism of a substance called homogentisic acid. It is caused by mutations in the HGD gene, which provides instructions for producing an enzyme called homogentisate 1,2-dioxygenase. This enzyme is involved in the breakdown of homogentisic acid.

Scientific studies have shown that mutations in the HGD gene can result in a deficiency or complete absence of the homogentisate 1,2-dioxygenase enzyme. This leads to the accumulation of homogentisic acid in the body, which can cause a variety of symptoms and complications associated with Alkaptonuria.

For more information about the gene associated with Alkaptonuria, you can visit the following resources:

  • Gene: Visit the HGD gene page on the Online Mendelian Inheritance in Man (OMIM) database to learn more about the genetic inheritance, clinical features, and other information related to Alkaptonuria. (OMIM link)
  • Scientific articles: Explore scientific articles on Alkaptonuria and the HGD gene on PubMed, the National Center for Biotechnology Information’s database of scientific literature. (PubMed link)
  • Patient support and advocacy: Find additional information and support for patients and families affected by Alkaptonuria through advocacy organizations such as the National Organization for Rare Disorders (NORD) and the Alkaptonuria Society. (NORD link) (Alkaptonuria Society link)
  • Research and clinical trials: Stay informed about ongoing research and clinical trials related to Alkaptonuria by visiting clinicaltrials.gov, a comprehensive database of clinical studies. (clinicaltrials.gov link)
See also  Birt-Hogg-Dubé syndrome

By learning more about the HGD gene and its association with Alkaptonuria, you can gain a better understanding of this rare genetic condition and the resources available to support affected individuals and their families.

Inheritance

Alkaptonuria is an autosomal recessive genetic condition. This means that an individual must inherit two copies of the mutated gene, one from each parent, to develop the condition.

The gene responsible for alkaptonuria is called the HGD gene, located on chromosome 3. Mutations in this gene result in reduced or absent levels of the enzyme homogentisate 1,2-dioxygenase, which is involved in the breakdown of a substance called homogentisic acid. When this enzyme is deficient, homogentisic acid accumulates in the body and causes the characteristic symptoms of alkaptonuria.

Alkaptonuria is a rare disease, with a frequency of about 1 in 250,000 to 1 in 1,000,000 individuals worldwide. It is more common in certain populations, such as the Dominican Republic and Slovakia, where the frequency may be as high as 1 in 19,000 individuals.

Inheritance of alkaptonuria follows a recessive pattern. This means that carriers of one copy of the mutated gene do not show any symptoms of the condition. However, when two carriers of the mutated gene have children together, there is a 25% chance with each pregnancy for the child to inherit two copies of the gene and develop alkaptonuria.

Genetic testing is available to confirm a diagnosis of alkaptonuria and to identify carriers of the mutated gene. This can be helpful for family planning purposes and for providing accurate information to affected individuals and their families.

For additional information on alkaptonuria inheritance, the following resources can be helpful:

  • Alkaptonuria Society (www.alkaptonuria.info)
  • Genetics Home Reference – Alkaptonuria (ghr.nlm.nih.gov/condition/alkaptonuria)
  • OMIM – Alkaptonuria (omim.org/entry/203500)
  • PubMed – Alkaptonuria (pubmed.ncbi.nlm.nih.gov/?term=alkaptonuria)
  • ClinicalTrials.gov – Alkaptonuria (clinicaltrials.gov/ct2/results?cond=alkaptonuria)

These resources provide patient advocacy and support, scientific articles about alkaptonuria and associated conditions, additional information on inheritance and genetic testing, and ongoing research studies.

Other Names for This Condition

Alkaptonuria has been known by several other names, including:

  • Black urine disease
  • Alcaptonuria
  • Ochronosis

This rare genetic disorder affects the body’s ability to break down certain amino acids. It is inherited in an autosomal recessive manner, which means that both copies of the responsible gene in each cell have mutations. The condition is caused by mutations in the HGD gene.

Patients with alkaptonuria have a buildup of a substance called homogentisic acid in their body. This acid can accumulate and cause darkening of urine and may turn tissues black. It can also lead to problems in the joints, heart valves, and other connective tissues.

For more information about the genetic causes, inheritance, and associated diseases, you can visit the Genetic Testing Registry (GTR) or the Online Mendelian Inheritance in Man (OMIM) database.

In addition, there are several resources available for further research and support, such as scientific articles from PubMed, clinical trials from ClinicalTrials.gov, and advocacy organizations like the Alkaptonuria Society and the National Organization for Rare Disorders (NORD).

By connecting with these resources, patients and their families can learn more about the condition, find support from others with the same condition, and stay updated on the latest research and clinical trials.

References:

  1. OMIM – Alkaptonuria
  2. Genetic Testing Registry (GTR) – Alkaptonuria
  3. PubMed – Alkaptonuria
  4. ClinicalTrials.gov – Alkaptonuria
  5. Alkaptonuria Society – https://www.alkaptonuria.info/
  6. NORD – https://rarediseases.org/rare-diseases/alkaptonuria/

Additional Information Resources

  • From OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides detailed information about the genetic causes, clinical features, inheritance patterns, and more for alkaptonuria. You can learn more about this condition by visiting the OMIM page on alkaptonuria.
  • From PubMed: PubMed is a database of scientific articles and research studies. You can find articles and studies related to alkaptonuria on PubMed by conducting a search using keywords such as “alkaptonuria” or “ochronosis”.
  • From ClinicalTrials.gov: ClinicalTrials.gov provides information on ongoing clinical trials for various diseases and conditions. You can search for clinical trials related to alkaptonuria on ClinicalTrials.gov to learn more about research studies and opportunities for participation.
  • Patient advocacy and support: There are several patient advocacy organizations that provide support, resources, and information for individuals and families affected by rare diseases like alkaptonuria. Some organizations that may be helpful include the Alkaptonuria Society and the National Organization for Rare Disorders (NORD).
  • Genetic testing: Genetic testing can help confirm a diagnosis of alkaptonuria and identify the specific genetic mutations responsible for the condition. This information can be useful for understanding inheritance patterns and guiding treatment decisions. Consult a healthcare professional or genetic counselor for more information about genetic testing options.
  • Associated genes: Alkaptonuria is caused by mutations in the HGD gene. The HGD gene provides instructions for making an enzyme called homogentisate 1,2-dioxygenase, which is involved in the breakdown of certain amino acids. Mutations in the HGD gene disrupt the normal function of this enzyme, leading to the characteristic features of alkaptonuria.
  • Frequency and inheritance: Alkaptonuria is a rare genetic condition. It is estimated to affect 1 in 250,000 to 1 million individuals worldwide. The inheritance pattern of the condition is autosomal recessive, which means that both copies of the HGD gene must be mutated in order for an individual to develop alkaptonuria.
  • Other names: Alkaptonuria is also known by other names, including “ochronosis” and “black urine disease”. These alternative names reflect the characteristic features and symptoms of the condition.
  • References: For more information on alkaptonuria, you can refer to the following resources:
    1. Valle D, et al. Disorders of Amino Acid Metabolism. In: Scriver CR, et al., eds. The Metabolic and Molecular Bases of Inherited Disease. 8th ed. New York, NY: McGraw-Hill; 2001.
    2. Phornphutkul C, Introne WJ, Perry MB, Bernardini I, Murphey MD, Fitzpatrick DL, et al. Natural history of alkaptonuria. New Engl J Med 2002;347:2111–21.
    3. Pshezhetsky AV, Ashmead MJ, and Persaud TP. Alkaptonuria: modern diagnostic and therapeutic approaches. Mol Genet Metab 2018; 124(4): 181-7.
See also  FLI1 gene

Learn More

For more information on alkaptonuria, visit the following resources:

Genetic Testing Information

Genetic testing is a valuable tool for patients to learn more about the rare genetic condition called alkaptonuria. With genetic testing, patients can obtain additional information about the condition and its associated genetic causes. This enables them to better understand the underlying genetic abnormalities that lead to the development of alkaptonuria.

One of the key resources for genetic testing information is the Online Mendelian Inheritance in Man (OMIM) database. OMIM provides scientific information about genetic diseases, including alkaptonuria. Patients can use this database to learn more about the genes associated with alkaptonuria and the frequency of the condition within different populations.

In addition to OMIM, other resources such as PubMed and clinicaltrialsgov provide information about research studies, clinical trials, and scientific articles related to alkaptonuria. These resources can help patients stay updated on the latest advancements in the field and connect with relevant research and support networks.

Advocacy organizations, such as the Alkaptonuria Society, also offer valuable information and support for patients and their families. These organizations provide resources, connective tissues, and advocacy for individuals affected by alkaptonuria. They offer a wealth of information on the condition, including genetic testing options and inheritance patterns.

Genetic testing can provide patients with important insights into the genetic causes of alkaptonuria. By understanding the specific genes involved, patients can gain a better understanding of the condition and its potential complications. This knowledge can help guide treatment strategies and enable patients to make informed decisions about their healthcare.

To access genetic testing information for alkaptonuria, patients can consult genetic testing centers, genetic counselors, and genetic testing catalogs. These resources can provide detailed information on the available genetic tests, their accuracy and reliability, and the process for obtaining a genetic test for alkaptonuria.

In conclusion, genetic testing can provide patients with valuable information about alkaptonuria, its genetic causes, and potential treatment options. By accessing resources such as OMIM, PubMed, clinicaltrialsgov, and advocacy organizations, patients can stay informed about the latest research and connect with support networks. Genetic testing centers and genetic counselors can provide additional guidance on the testing process and help patients make informed decisions about their healthcare.

Genetic and Rare Diseases Information Center

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

GARD offers various resources and information for individuals, families, healthcare professionals, and researchers. The GARD website provides a wealth of information on genetic conditions, including Alkaptonuria, with resources such as:

  • The Alkaptonuria Condition Summary: This summary provides a comprehensive overview of Alkaptonuria, including its symptoms, inheritance, diagnosis, treatment, and prognosis.
  • Information on Genetic Testing: GARD offers information about genetic testing for Alkaptonuria, including the types of tests available, how to access testing, and the benefits and limitations of testing.
  • Support and Advocacy Organizations: GARD provides a list of support and advocacy organizations for individuals and families affected by Alkaptonuria. These organizations offer resources, support services, and opportunities for connecting with others in the Alkaptonuria community.
  • Research and Clinical Trials: The GARD website provides information about ongoing research studies and clinical trials related to Alkaptonuria. This includes information on how to participate in these studies and trials.
  • Scientific Articles and References: GARD offers access to scientific articles and references about Alkaptonuria through PubMed and OMIM.
  • Genes and Inheritance: GARD provides information about the genes associated with Alkaptonuria and the inheritance patterns of the condition.
  • Frequency and Associated Conditions: GARD provides information about the frequency of Alkaptonuria in the population and any other genetic conditions and tissues that may be associated with the condition.

Additionally, GARD offers a Genetics and Rare Diseases Catalog database, which provides information on thousands of genetic and rare diseases. The catalog includes data on symptoms, inheritance, genes, and more.

For additional information about Alkaptonuria, including patient and caregiver resources, research updates, and news, individuals can visit the GARD website or contact the GARD Information Center directly via phone or email. The GARD Information Center is staffed by experienced information specialists who are available to answer questions and provide assistance.

Patient Support and Advocacy Resources

Alkaptonuria is a rare genetic condition that affects connective tissues. There are a number of patient support and advocacy resources available for individuals and families affected by this rare disease.

  • Alkaptonuria Society: This organization is dedicated to providing information and support to individuals with alkaptonuria and their families. They offer resources on genetic testing, the causes and inheritance of alkaptonuria, and additional information about the condition.
  • X-linked Alkaptonuria Consortium (X-LAK): X-LAK is a scientific research center that focuses on studying alkaptonuria and related genetic diseases. They conduct clinical trials and research studies to learn more about the condition and develop new treatments.
  • OMIM: Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Their database includes information about alkaptonuria, including the associated genes and inheritance pattern.
  • PubMed: PubMed is a database of scientific research articles. Searching for “alkaptonuria” on PubMed can provide you with additional information on the latest studies and scientific advancements in the field.

It is important for individuals with alkaptonuria and their families to connect with patient support and advocacy resources. These organizations can provide valuable information, emotional support, and resources for genetic testing and clinical trials.

Research Studies from ClinicalTrials.gov

The scientific community is constantly conducting research studies to learn more about the condition of alkaptonuria. ClinicalTrials.gov is a valuable resource for finding information on ongoing studies related to this genetic disease.

See also  Shwachman-Diamond syndrome

Alkaptonuria is a rare, genetic condition that causes the body to produce a buildup of a substance called homogentisic acid. This acid can accumulate in various tissues of the body, leading to a range of symptoms and complications.

ClinicalTrials.gov provides a catalog of research studies focused on alkaptonuria, as well as other connective tissue diseases. Through this resource, patients and their families can find information about clinical trials, genetic testing, and other studies aimed at understanding and managing this condition.

These research studies not only provide valuable information about the causes, frequency, and inheritance of alkaptonuria, but also support advocacy groups and patient resources. ClinicalTrials.gov offers a comprehensive database of clinical trials, articles, and references related to alkaptonuria, providing additional information for those seeking to learn more about this condition.

In addition to ClinicalTrials.gov, another valuable resource for information on alkaptonuria is OMIM (Online Mendelian Inheritance in Man). OMIM provides genetic information, gene names, and associated articles for various diseases, including alkaptonuria.

By accessing these resources, patients and their families can stay informed about the latest research studies and clinical trials focused on alkaptonuria. This information can help empower individuals with alkaptonuria to better understand their condition, connect with support networks, and explore potential treatment options.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM is a valuable resource for learning more about genetic conditions. It provides a comprehensive list of genes and diseases associated with them. This catalog includes information about the inheritance pattern, clinical features, and frequency of each condition.

In addition to providing information about specific genes and diseases, the catalog also offers articles and resources on related topics. These articles provide the latest research and scientific studies on the genetic basis of various conditions. They connect the information from OMIM with other resources, such as PubMed, for a more comprehensive understanding of the condition.

The catalog also includes information about patient advocacy and support groups for rare diseases. It provides links and names of organizations that offer support and resources to patients and families affected by these conditions.

Genetic testing is an important tool in the diagnosis and management of genetic conditions. The catalog provides information about available genetic tests for each condition, including the genes that are tested and the laboratories that offer the testing.

For researchers and healthcare professionals, the catalog offers additional resources such as clinicaltrialsgov. This website provides information about ongoing clinical trials and studies related to different genetic conditions.

The catalog also includes information about the associated tissues and clinical features of each condition. This information can be helpful in understanding the impact of the condition on different parts of the body.

Overall, the Catalog of Genes and Diseases from OMIM is a comprehensive and valuable resource for anyone interested in learning more about genetic conditions. It provides access to a wealth of information about genes, diseases, inheritance patterns, clinical features, and more. Whether you’re a patient, healthcare professional, or researcher, this catalog can help you learn about and stay up to date on the latest developments in the field.

References:

Scientific Articles on PubMed

Alkaptonuria is a rare genetic condition associated with a deficiency in the enzyme homogentisate 1,2-dioxygenase. This genetic defect leads to the accumulation of homogentisic acid in the body, causing a variety of clinical manifestations.

There are various scientific articles related to alkaptonuria available on PubMed, which provide valuable information about the causes, inheritance, frequency, and associated genes with this condition. These articles also support the clinical testing and diagnosis for patients with alkaptonuria.

The PubMed catalog contains references to studies that explore the rare disease alkaptonuria and its connection with other connective tissue disorders. By referring to these articles, researchers and healthcare professionals can learn more about the genetic basis and clinical characteristics of alkaptonuria.

For additional information about alkaptonuria, the Online Mendelian Inheritance in Man (OMIM) database is also a valuable resource. OMIM provides in-depth information about the genes and genetic variants associated with rare diseases, including alkaptonuria.

In addition to scientific articles and online databases, there are also advocacy groups and research centers that support and provide resources for alkaptonuria. These organizations aim to raise awareness, promote research, and improve the quality of life for individuals living with alkaptonuria.

Furthermore, clinicaltrials.gov is another platform where researchers can find information about ongoing and completed clinical trials related to alkaptonuria. These trials aim to explore potential treatments, interventions, and management strategies for alkaptonuria patients.

Overall, the scientific articles available on PubMed, along with other resources such as OMIM, clinicaltrials.gov, and advocacy groups, provide a comprehensive understanding of alkaptonuria. Researchers, healthcare professionals, and patients can access these sources of information to learn more about the condition and contribute to its management and treatment.

References

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