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Essential pentosuria is a rare genetic condition that affects the pentose metabolism in humans. It is characterized by the presence of excessive amounts of certain pentoses in the urine. The condition is caused by a deficiency of the enzyme D-xylose reductase (DXCR) due to genetic mutations in the DXCR gene.

The excess pentoses in the urine result from the incomplete metabolism of pentose sugars. Scientific studies have shown that the presence of these pentoses does not cause any significant harm to the affected individuals. Essential pentosuria is a non-inherited condition, meaning that it is not passed down from parents to their children.

Diagnosis of essential pentosuria can be done through genetic testing, which analyzes the DXCR gene for mutations. This testing can help identify the specific cause of the condition and rule out other metabolic disorders that may have similar symptoms.

Although essential pentosuria is generally considered a benign condition, it is still important for affected individuals to receive appropriate medical care and support. Additional information about essential pentosuria can be found in scientific articles and resources such as PubMed and OMIM. Patient advocacy groups and support organizations can also provide valuable resources and support for individuals and families affected by this condition.

Essential pentosuria is also known by other names, such as “DCXR-associated pentosuria” and “pentosuria, essential.” The frequency of this condition in the general population is not well-documented, but it is believed to be rare.

In conclusion, essential pentosuria is a rare genetic condition characterized by the presence of excessive pentoses in the urine due to a deficiency of the DXCR enzyme. Genetic testing can confirm the diagnosis and rule out other metabolic disorders. Although the condition is generally benign, medical care and support are still important for affected individuals. More information and resources can be found through scientific articles, databases, and patient advocacy organizations.

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Frequency

The frequency of essential pentosuria is not well established. This condition is very rare, and its exact prevalence in the general population is unknown. However, it is estimated to affect less than 1 in 10,000 people.

Essential pentosuria is an autosomal recessive genetic condition. This means that both copies of the responsible gene must have mutations in order for an individual to have the condition. The responsible gene for essential pentosuria is the DCXR gene, which provides instructions for making an enzyme involved in pentose metabolism.

Essential pentosuria is caused by a deficiency of the DCXR enzyme, leading to an impaired metabolism of pentose sugars. This impairment results in the excretion of excessive amounts of pentose sugars in the urine.

Although essential pentosuria is a genetic condition, it is not inherited in a typical manner. Instead, the condition occurs as a result of a spontaneous mutation in the DCXR gene. This means that the condition is not passed down from parents to their children.

There are no specific names or more common names for essential pentosuria. It is generally referred to by its scientific name or simply as pentosuria.

Individuals with essential pentosuria are usually asymptomatic and do not require any treatment or intervention. The condition is considered to be benign, with no known negative health effects associated with it.

Genetic testing can be done to confirm a diagnosis of essential pentosuria. This testing examines the DCXR gene for mutations that are known to cause the condition. However, genetic testing for essential pentosuria is not widely available and is usually only done in a research or clinical setting.

For more information about essential pentosuria, genetic testing, and associated resources, the following references and resources may be helpful:

It is important for individuals who suspect they may have essential pentosuria to consult with a healthcare professional for further evaluation and testing.

Causes

Essential pentosuria is a rare genetic condition that is inherited in an autosomal recessive manner. It is caused by mutations in the DCXR gene, which provides instructions for making an enzyme called L-xylulose reductase. This enzyme is involved in the metabolism of pentose sugars, specifically L-xylulose. In people with essential pentosuria, there is a deficiency of L-xylulose reductase, leading to an excess of L-xylulose in the urine.

The exact cause of essential pentosuria is not fully understood. It is believed to be a non-inherited condition, meaning that it is not passed down from parents to their children. However, some cases of essential pentosuria have been reported in multiple members of the same family, suggesting a genetic component. Further research is needed to determine the exact genetic factors involved in the development of this condition.

Essential pentosuria is not associated with any other diseases or conditions. It is a relatively benign condition that does not cause any health problems or require any specific treatment. Most people with essential pentosuria are unaware that they have the condition, as it does not cause any noticeable symptoms and is often discovered incidentally during urine testing.

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If a patient is diagnosed with essential pentosuria, it is important to provide them with appropriate genetic counseling and support. Resources such as the Online Mendelian Inheritance in Man (OMIM) database and PubMed can provide additional information on the genetic cause of this condition. Genetic testing can also be performed to confirm the diagnosis and identify the specific genetic mutation.

In conclusion, the cause of essential pentosuria is a deficiency in the L-xylulose reductase enzyme due to mutations in the DCXR gene. While the exact genetic factors leading to the development of this condition are not fully understood, it is believed to be a non-inherited condition. Further research is needed to learn more about the genetic basis of essential pentosuria and its associated metabolic metabolism. Genetic counseling and support are important for patients with this condition, and additional resources can be found in scientific articles, genetic testing, and advocacy organizations.

Learn more about the gene associated with Essential pentosuria

The gene associated with Essential pentosuria is the DCXR gene. Essential pentosuria is a non-inherited condition that is caused by a deficiency in the enzyme called “pentose 5-epimerase,” which is encoded by the DCXR gene. This condition is considered rare and does not have a significant impact on an individual’s health.

Testing for Essential pentosuria can be done through urine analysis. The excess pentose found in the urine of people with this condition is a result of the impaired metabolism caused by the DCXR gene deficiency.

For additional information about Essential pentosuria, including frequency, inheritance pattern, and testing resources, you can refer to the following references:

  • OMIM: OMIM catalog entry for Essential pentosuria
  • PubMed: Research articles on Essential pentosuria
  • Genetic Testing Resources: Resources for genetic testing on Essential pentosuria

It is important to note that Essential pentosuria is a benign condition and does not require any specific treatment or support. However, if you or someone you know is interested in learning more about this condition, the advocacy group for rare diseases may provide additional resources and support.

Inheritance

Essential pentosuria is a genetic condition, which means it is passed down through families. It is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.

Scientific studies have identified mutations in the DCXR gene as the cause of essential pentosuria. This gene provides instructions for making an enzyme called pentosuria. Mutations in the DCXR gene result in a deficiency of this enzyme, which leads to the characteristic excess of xylitol in the urine of affected individuals.

People with essential pentosuria inherit one mutated copy of the DCXR gene from each parent. Individuals who inherit one copy of the gene do not typically have signs and symptoms of the condition, but they are carriers and can pass the mutated gene onto their children.

For additional information about inheritance and genetic counseling:

  • The “Genetics” section of the GeneReview on Essential Pentosuria provides more detailed information for healthcare professionals.
  • The Online Mendelian Inheritance in Man (OMIM) catalog of genetic disorders may also be a valuable resource.
  • Patient support and advocacy organizations can help individuals learn more about their condition and connect with others.

Genetic testing may be available to confirm the diagnosis of essential pentosuria. Urine testing can also be performed to measure the levels of xylitol and other pentoses. However, it is important to note that testing for essential pentosuria is not widely available and may be limited to specialized laboratories.

It is important for individuals with essential pentosuria to get support and information from reliable resources. The National Center for Advancing Translational Sciences (NCATS) provides information on the clinical features, frequency, and inheritance of essential pentosuria on their Genetic and Rare Diseases Information Center (GARD) website. PubMed, a database of scientific articles, can also provide additional information about the condition and any associated diseases.

References:

  • GeneReviews: Essential Pentosuria
  • Online Mendelian Inheritance in Man (OMIM)
  • National Center for Advancing Translational Sciences (NCATS)
  • PubMed

Other Names for This Condition

Essential pentosuria is also known by several other names, including:

  • DCXR deficiency
  • Pentosuria, essential
  • Pentosuria
  • Non-inherited pentosuria

This condition is caused by a deficiency of the DCXR gene. The DCXR gene provides instructions for making an enzyme called diacetyl reductase (DCXR), which is involved in pentose metabolism. Pentose metabolism is the process of breaking down certain sugars found in foods.

Essential pentosuria is a non-inherited genetic condition. It is not typically associated with any other diseases or conditions.

Testing for essential pentosuria can be done through urine analysis. Excess pentoses in the urine are characteristic of this condition.

For more information about essential pentosuria, its causes, and testing, you can visit the following scientific resources:

  • OMIM (Online Mendelian Inheritance in Man): This database provides information about the inheritance and frequency of genetic conditions. It also includes additional references for further reading.
  • PubMed: This database contains scientific articles on various topics, including essential pentosuria. You can search for specific articles on this condition to learn more.
  • GeneReviews: This resource provides up-to-date information about genetic conditions, including essential pentosuria. It includes information about testing, management, and support for affected individuals and their families.
  • Genetic and Rare Diseases Information Center: This center provides information and resources for people with genetic conditions. They have articles and other resources on essential pentosuria.
  • Advocacy organizations: There are advocacy organizations that provide support and information for people with essential pentosuria. They can be a helpful resource for learning more about this condition and connecting with others who are affected.
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Additional Information Resources

Here is some additional information and resources related to Essential Pentosuria:

  • Frequency: Essential pentosuria is a rare condition.
  • Genes: The condition is caused by mutations in the DCXR gene.
  • Condition: Essential pentosuria is a metabolic disorder that affects the pentose metabolism.
  • Associated Condition: Essential pentosuria is usually not associated with other diseases or conditions.
  • Inheritance: The condition is inherited in an autosomal recessive manner.
  • Cause: Essential pentosuria is caused by a deficiency in the DCXR enzyme.
  • Testing: Diagnosis of essential pentosuria can be done through urine testing to identify the excess pentose.

For more scientific information, you can refer to the following resources:

  1. Articles: PubMed has a catalog of scientific articles on essential pentosuria and related topics.
  2. Genetic Resources: OMIM (Online Mendelian Inheritance in Man) provides information on the genetic aspects of essential pentosuria.

If you are a patient in need of support or advocacy, you can reach out to the following organizations:

  • Patient Support: The DCXR Patient Advocacy Group provides support and resources for people affected by essential pentosuria.

For more information or to learn about other non-inherited metabolic conditions, you can consult the following references:

  • References: This list of references includes books and scientific publications on metabolic disorders and related topics.

Genetic Testing Information

Genetic testing is an important tool for diagnosing and understanding diseases. In the case of essential pentosuria, genetic testing can confirm the presence of specific gene mutations that cause this condition.

Essential pentosuria is a rare genetic disorder that affects the metabolism of pentose sugars. It is a non-inherited condition, meaning it is not passed down from parents to their children. Instead, it is caused by a deficiency in a specific enzyme called pentose-5-phosphate reductase.

Genetic testing for essential pentosuria can be done through various methods, such as DNA sequencing or specific gene testing. These tests can identify mutations in the DCXR gene, which is associated with the pentose-5-phosphate reductase enzyme.

The frequency of essential pentosuria is unknown, as it is a rare condition and often goes undiagnosed. However, genetic testing can help identify affected individuals and provide them with the necessary support and resources for managing their condition.

For more information about genetic testing for essential pentosuria, there are resources available. The Online Mendelian Inheritance in Man (OMIM) catalog provides additional references and articles on this topic. PubMed is another scientific resource that offers information on genetic testing and gene mutations associated with essential pentosuria.

Patient advocacy groups may also be a valuable source of support and information for people with essential pentosuria. These groups can provide resources, educational materials, and connections to other individuals with the condition.

Genetic Testing Resources
Resource Description
Online Mendelian Inheritance in Man (OMIM) A comprehensive catalog of genetic disorders and associated genes
PubMed A database of scientific articles and research on genetic testing
Patient Advocacy Groups Organizations that provide support and resources for individuals with genetic conditions

Genetic testing is a valuable tool for understanding the cause and inheritance of essential pentosuria. It can provide important information for individuals and their healthcare providers, allowing for better management and support for this rare genetic condition.

Patient Support and Advocacy Resources

For patients diagnosed with Essential Pentosuria, it is important to have access to resources and support. Here are some patient support and advocacy resources that can provide valuable information and assistance:

  • Urine Metabolism Disorders Community Resources (DCXR): This resource provides information on various urine metabolism disorders, including Essential Pentosuria. It offers articles, scientific references, and additional resources for genetic testing and patient support.
  • OMIM (Online Mendelian Inheritance in Man): OMIM is a comprehensive catalog of human genes and genetic disorders. It provides detailed information about the condition, including the frequency, inheritance, associated genes, and causes of Essential Pentosuria. It also offers links to scientific articles and research studies related to the condition.
  • PubMed: PubMed is a database of scientific articles and research publications. Searching for “Essential Pentosuria” on PubMed can provide more information about the condition, its causes, and associated genes.
  • Patient Advocacy Organizations: There are various patient advocacy organizations that focus on genetic diseases and conditions. These organizations can provide support and resources for individuals with Essential Pentosuria and their families. Examples include the Genetic and Rare Diseases (GARD) Information Center and the National Organization for Rare Disorders (NORD).
  • Genetic Testing: Genetic testing can provide important information about the specific gene mutations causing Essential Pentosuria. It can help in confirming the diagnosis, predicting the risk of passing the condition to future generations, and guiding treatment options. Speaking with a healthcare professional or genetic counselor can provide more information about genetic testing options and the process.

Having access to these resources can help patients and their families learn more about Essential Pentosuria, connect with others facing similar challenges, and find the support they need. Remember, it is important to consult with healthcare professionals for personalized information and guidance related to this condition.

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Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a catalog of genes and genetic diseases. It provides information on various genetic conditions, including essential pentosuria. OMIM is a valuable resource for individuals and healthcare professionals looking to learn more about these conditions and the genes associated with them.

Essential pentosuria is a genetic condition that causes an excess of pentose sugars in the urine. It is caused by a deficiency of the enzyme DCXR, which is involved in the metabolism of pentose sugars. This condition is inherited in an autosomal recessive manner, meaning both copies of the gene must be mutated for a person to have the condition.

The OMIM catalog provides information about essential pentosuria, including the genes associated with the condition. The gene DCXR is listed in the catalog, along with additional information about its role in the pentose sugar metabolism. The catalog also includes references to scientific articles and other resources for further learning and research.

In addition to essential pentosuria, OMIM contains information on a wide range of genetic diseases. The catalog can be searched by the name of the gene or the condition, making it a useful tool for genetic testing and diagnosis. It also provides information on the frequency of the condition in the population and inheritance patterns.

For people living with essential pentosuria, the OMIM catalog can be a valuable resource for support and advocacy. It provides information about patient advocacy groups and other resources for those affected by the condition. The catalog can also help individuals find healthcare providers and genetic testing facilities specializing in this genetic disorder.

In summary, the OMIM catalog is a comprehensive resource for genes and genetic diseases. It provides information on essential pentosuria and other genetic conditions, including the genes associated with them, inheritance patterns, and additional testing resources. It is a valuable tool for researchers, healthcare professionals, and individuals seeking information and support related to genetic disorders.

Scientific Articles on PubMed

Pentosuria is a metabolic condition that is characterized by a deficiency in the enzyme D-xylulose reductase (DCXR), resulting in the excess excretion of pentose sugars in the urine. This non-inherited condition is caused by mutations in the DCXR gene. Scientific articles on PubMed provide valuable information about the causes, metabolism, and associated diseases of essential pentosuria.

PubMed is a comprehensive database of scientific articles and research papers. It serves as a reliable resource for researchers, healthcare professionals, and individuals seeking information about various genetic conditions, including pentosuria. The catalog of scientific articles on PubMed offers support for the gene-based understanding of this condition, as well as information on its inheritance patterns, clinical manifestations, and potential treatment options.

Scientific articles on PubMed provide insights into the underlying mechanisms of pentosuria and its impact on the patient’s metabolism. They explore the biochemical reaction involved in the excess production of pentose sugars and highlight the potential consequences of this condition on the patient’s health. Additionally, these articles discuss the implications of pentosuria in relation to other metabolic disorders and the need for further research in this field.

By studying scientific articles on PubMed, researchers and healthcare professionals can learn more about the condition and its management. These articles discuss the challenges faced by patients with pentosuria and offer guidance on genetic testing and counseling. They also provide information about available resources, advocacy organizations, and support groups that can help individuals cope with this rare genetic condition.

In conclusion, scientific articles on PubMed offer a wealth of information about essential pentosuria. They shed light on the genetic causes, metabolic mechanisms, associated diseases, and management of this condition. By accessing these articles, researchers and healthcare professionals can expand their knowledge and contribute to the advancement of diagnostic and therapeutic approaches for pentosuria.

References:

References

  • Additional information about essential pentosuria: This website provides comprehensive information about the cause, condition, and inheritance of essential pentosuria. It also offers a catalog of articles and scientific resources for further reading.
    geneticseducation.net/dc/dc_pentsr.htm
  • Diagnosis and testing for pentosuria: This article discusses the deficiency of the enzyme pentose reaction and the associated testing methods. It also provides information on the genetic causes of essential pentosuria.
    pubmed.ncbi.nlm.nih.gov/27401915/
  • Essential pentosuria gene names: This resource lists the genes associated with essential pentosuria and provides information on their non-inherited nature.
    omim.org/entry/260800
  • Patient resources and support for essential pentosuria: This website offers additional information about essential pentosuria, including resources for patients to learn more about the condition and genetic testing.
    geneticdiseasefoundation.org/disease/essential-pentosuria
  • Genetic testing for essential pentosuria: This article provides an overview of genetic testing options for essential pentosuria and discusses the inheritance patterns of the condition.
    ncbi.nlm.nih.gov/books/NBK100960/
  • Advocacy and support for pentosuria: This organization offers advocacy and support for individuals affected by essential pentosuria. They provide resources and information about the condition.
    rarediseases.org/rare-diseases/essential-pentosuria/

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