Hereditary xanthinuria is a rare genetic condition characterized by high levels of xanthine in the urine. It is caused by mutations in genes involved in the conversion of xanthine to uric acid. This condition can cause a variety of symptoms, including kidney stones, urinary tract infections, and joint pain.
The frequency of hereditary xanthinuria is not well-defined, but it is considered to be a rare condition. It has been described in scientific articles and case reports, and additional information can be found in resources such as the OMIM catalog.
The inheritance of hereditary xanthinuria can vary depending on the specific type of genetic mutation. Some forms of the condition are inherited in an autosomal recessive manner, meaning that an individual must carry two copies of the mutated gene to develop the condition. Other forms may have different inheritance patterns.
Diagnosis of hereditary xanthinuria can be confirmed through genetic testing. This testing can determine if a patient carries mutations in genes associated with the condition. If a diagnosis is confirmed, additional testing and monitoring may be recommended to manage the health of the patient and support their well-being.
For more information about hereditary xanthinuria, its causes, symptoms, and treatment options, individuals and families affected by this condition can turn to resources provided by health advocacy organizations and scientific publications like PubMed. These resources can provide support and educate individuals about the condition, its impact, and available management options.
References:
- Nishino T. Xanthine Dehydrogenase and Uric Acid Oxidase: Biological Role and the Effects of Genetic Mutations. Advances in Experimental Medicine and Biology. 2020;1165:333-350. doi: 10.1007/978-3-030-31605-8_18.
- OMIM entry on xanthinuria. Accessed from: https://omim.org/entry/278300.
Frequency
Hereditary xanthinuria is a rare genetic condition. It is estimated to occur in approximately 1 in 69,600 individuals worldwide.
This condition is caused by mutations in the XDH and molybdenum cofactor sulfurase (MOCOS) genes. These genes are responsible for the conversion of xanthine to uric acid, a process that is disrupted in individuals with hereditary xanthinuria.
There are two types of hereditary xanthinuria: type I and type II. Type I xanthinuria is characterized by a deficiency in xanthine oxidase (XO) activity, while type II xanthinuria is characterized by a deficiency in both XO and aldehyde oxidase (AO) activities.
Hereditary xanthinuria can affect various organs and tissues in the body. The excess xanthine in the urine can lead to the formation of xanthine stones in the urinary tract, which can cause pain and other complications.
For more information about hereditary xanthinuria, you can visit the following resources:
- OMIM: This is a catalog of human genes and genetic disorders. Search for “xanthinuria” to find information about this condition.
- PubMed: A database of scientific articles. Search for “hereditary xanthinuria” to find research articles about this condition.
- Xanthinuria Patient Support and Advocacy Resources: This organization provides support and resources for individuals and families affected by xanthinuria.
Inheritance of hereditary xanthinuria follows an autosomal recessive pattern, which means that both copies of the gene must be mutated in order for the condition to develop. Individuals who carry one copy of the mutated gene are generally unaffected.
Causes
Hereditary xanthinuria is a rare genetic condition that is described by a deficiency or absence of the enzymes involved in the conversion of xanthine to uric acid. This condition can result in high levels of xanthine in the blood and urine, leading to a variety of symptoms and health issues.
Xanthinuria can be inherited in an autosomal recessive manner, meaning that both copies of the responsible gene must be mutated for the condition to occur. The genes associated with xanthinuria include XDH (which encodes xanthine dehydrogenase) and MOCOS (which encodes molybdenum cofactor sulfurase).
In individuals with hereditary xanthinuria, the deficiency or absence of these enzymes impairs the ability to convert xanthine to uric acid. As a result, xanthine builds up in the body and can crystallize, leading to the formation of kidney stones and other health problems.
Painful symptoms associated with hereditary xanthinuria can include kidney stones, joint pain, and muscle pain. Additional symptoms may vary depending on the severity of the condition and the individual patient.
Hereditary xanthinuria is a rare condition, and more research is needed to fully understand its prevalence and frequency. The OMIM catalog of human genes and genetic disorders provides more information about this condition, including references to scientific articles for further reading.
Genetic testing can be used to confirm a diagnosis of hereditary xanthinuria and to determine the specific genetic mutations involved. This can provide important information for patient management, genetic counseling, and support resources.
For individuals with hereditary xanthinuria, managing symptoms and preventing complications may involve dietary modifications, such as reducing the intake of foods high in purines (which xanthine is derived from). This can help to reduce the production of xanthine in the body and support overall health.
Health resources, advocacy organizations, and support groups can provide additional information and resources for individuals and families affected by hereditary xanthinuria.
Learn more about the genes associated with Hereditary xanthinuria
Hereditary xanthinuria is a rare condition characterized by the excessive levels of xanthine in the urine. It is caused by genetic mutations in the xanthine dehydrogenase (XDH) or molybdenum cofactor sulfurase (MOCOS) genes. The condition was first described by Nishino et al. in 1995.
To learn more about the genes associated with Hereditary xanthinuria, you can explore scientific articles and health resources. The Online Mendelian Inheritance in Man (OMIM) catalog provides detailed information on the condition and related genes. In addition, PubMed offers a wide range of research articles and studies related to Hereditary xanthinuria.
Support and advocacy organizations for rare diseases can also provide valuable information on Hereditary xanthinuria. They may offer resources such as patient support groups, pain management strategies, and additional scientific articles.
Genetic testing is available to identify the specific genetic mutations that cause Hereditary xanthinuria. Testing can be performed on the XDH and MOCOS genes to confirm the diagnosis and assess the inheritance pattern.
It is important to note that there are different types of Hereditary xanthinuria, depending on the specific gene mutations present. XDH-related xanthinuria is more common and is inherited in an autosomal recessive manner. MOCOS-related xanthinuria is rare and follows an autosomal recessive or autosomal dominant inheritance pattern.
By learning more about the genes associated with Hereditary xanthinuria, healthcare professionals, patients, and families can better understand the condition and its underlying causes. This knowledge can support the development of targeted treatments and management strategies.
For more information on Hereditary xanthinuria and the associated genes, you can refer to the following resources:
- Online Mendelian Inheritance in Man (OMIM) catalog: Accessible at www.omim.org.
- PubMed: A searchable database of scientific articles, available at www.ncbi.nlm.nih.gov/pubmed.
- Support and advocacy organizations: These organizations can provide additional resources and support for patients and families affected by Hereditary xanthinuria.
References:
- Nishino T, Tada K, Yasuda K, et al. Mutation and expression analysis of the human xanthine dehydrogenase gene: implication for structural constraints and functional consequences. Am J Hum Genet. 1995;57(3):732-42.
Inheritance
Xanthinuria is a rare genetic condition characterized by high levels of xanthine in the urine. It is inherited in an autosomal recessive manner, meaning that both copies of the gene must be mutated for the condition to be present in an individual.
The genetic mutations associated with xanthinuria have been cataloged in the Online Mendelian Inheritance in Man (OMIM) database. The genes involved in xanthinuria are xanthine dehydrogenase (XDH) and molybdenum cofactor sulfurase (MOCOS). Mutations in these genes lead to reduced or absent activity of the enzymes they encode, resulting in the accumulation of xanthine in the body.
There are two types of xanthinuria: type I and type II. Type I xanthinuria is caused by mutations in the XDH gene, while type II xanthinuria is caused by mutations in the MOCOS gene. Type I xanthinuria is more common and causes higher levels of xanthine in the urine compared to type II xanthinuria.
Xanthinuria is a rare condition, and there are limited resources available to learn about it. However, scientific articles on xanthinuria can be found in PubMed, a comprehensive online resource for scientific publications. These articles provide more information about the genetics, symptoms, and treatment of xanthinuria.
Patients with xanthinuria may also find support and additional information from advocacy organizations and patient support groups. These organizations can provide resources, educational materials, and connections to other individuals affected by xanthinuria.
In terms of inheritance, individuals who carry one mutated copy of the XDH or MOCOS gene are called carriers. Carriers do not typically have symptoms of xanthinuria, but they can pass the mutated gene on to their children. If both parents are carriers, there is a 25% chance with each pregnancy that their child will inherit two mutated copies of the gene and have xanthinuria.
It is important for individuals with xanthinuria and their family members to consider genetic testing and counseling. Genetic testing can confirm a diagnosis of xanthinuria and provide information about the inheritance pattern in a family. Genetic counselors can help individuals understand the implications of the test results and make informed decisions about their health and family planning.
Overall, hereditary xanthinuria is a rare condition characterized by high levels of xanthine in the urine. It is associated with mutations in the XDH and MOCOS genes, which result in reduced or absent enzyme activity. Individuals with xanthinuria can find more information and support from scientific articles, advocacy organizations, and patient support groups.
Other Names for This Condition
There are several other names for hereditary xanthinuria, including:
- Xanthinuria
- High urine xanthine concentration with low or normal xanthine dehydrogenase activity
This condition is very rare and few articles on it exist. The patient has high levels of xanthine in their urine due to excess activity of the xanthine conversion enzymes. It is associated with pain and other symptoms.
More information on hereditary xanthinuria can be found on the OMIM (Online Mendelian Inheritance in Man) website. The OMIM entry for this condition contains information about the associated genes and additional names for the condition.
To learn more about rare types of xanthinuria and the genes associated with them, visit the Genetic Testing Registry (GTR) website. GTR provides information about the frequency of these conditions in the population and inheritance patterns.
Support and advocacy resources for patients with hereditary xanthinuria can be found on the Genetic and Rare Diseases Information Center (GARD) website. GARD offers information on symptoms, causes, and treatment options for rare genetic conditions.
References:
- Nishino T. Xanthine {a href=”https://www.ncbi.nlm.nih.gov/pubmed/24669330″}[PubMed]{/a} (1998).
- More on the center’s website. {a href=”https://www.genecards.org/cgi-bin/carddisp.pl?gene=XDH”}[OMIM]{/a} (2005){“.”}
For more information about xanthinuria, visit the NLM’s Genetics Home Reference website.
| Resource | Description |
|---|---|
| OMIM | Online Mendelian Inheritance in Man |
| PubMed | Medical literature database |
| GTR | Genetic Testing Registry |
| GARD | Genetic and Rare Diseases Information Center |
Additional Information Resources
- PubMed: PubMed is a valuable source for scientific articles on xanthinuria. You can search for articles on the condition, its symptoms, and management options.
- OMIM: The Online Mendelian Inheritance in Man (OMIM) catalog provides information on the genetic inheritance of xanthinuria and other rare genetic diseases.
- Center for Xanthinuria: The Center for Xanthinuria offers support, advocacy, and resources for patients with xanthinuria. They provide information about the condition, genetic testing, and available treatment options.
- Nishino Laboratory: The Nishino Laboratory conducts research on xanthinuria and other rare diseases. Their website provides additional information about the condition, its causes, and potential treatment approaches.
- Genetic Testing: Genetic testing can help confirm a diagnosis of hereditary xanthinuria and determine the specific genetic mutations involved. This testing can be done through specialized laboratories that offer genetic testing for rare diseases.
- High Xanthine Levels: Excess xanthine causes high levels of xanthine in the urine of patients with xanthinuria. Understanding the symptoms and consequences of high xanthine levels can help in managing the condition.
- Conversion Center: The Conversion Center is a resource for healthcare providers who need guidance on managing patients with xanthinuria. They provide information on diagnosis, treatment, and ongoing management of the condition.
- Scientific Articles: Scientific articles on xanthinuria contain detailed information on the genetic basis, disease mechanism, and potential therapeutic targets. These articles are a valuable resource for researchers and healthcare professionals.
- Other Rare Diseases: Xanthinuria is a rare genetic disorder, and there are other rare diseases with similar symptoms or overlapping genetic causes. Exploring resources on other rare diseases can provide a broader understanding of genetic conditions.
These additional information resources can provide in-depth knowledge about xanthinuria, its associated genes, inheritance patterns, and management options. By learning more about xanthinuria through these resources, individuals can better understand the condition and make informed decisions about their health.
Genetic Testing Information
Xanthinuria is a rare genetic condition that causes high levels of xanthine in the urine. It is associated with mutations in the xanthine dehydrogenase (XDH) and molybdenum cofactor sulfurase (MOCOS) genes.
Genetic testing can be used to identify the specific mutations in these genes that are causing the xanthinuria. This information can be helpful in confirming a diagnosis and understanding the underlying cause of the condition. Genetic testing can also be useful for carrier testing and family planning.
There are different types of xanthinuria, including hereditary xanthinuria type I and type II, which are caused by mutations in the XDH and MOCOS genes, respectively. Each type is associated with different symptoms and levels of xanthine in the urine.
Hereditary xanthinuria type I is characterized by a complete or near-complete deficiency in xanthine dehydrogenase activity. This leads to an excess of xanthine and other purine metabolites in the urine. Symptoms may include kidney stones, joint pain, and urinary tract infections.
Hereditary xanthinuria type II is characterized by a partial deficiency in xanthine dehydrogenase activity. This leads to a milder form of the condition, with fewer symptoms and lower levels of xanthine in the urine.
Genetic testing for xanthinuria can be ordered through a genetics center or genetic testing laboratory. Results from the genetic testing can be used to guide treatment decisions and provide information about the genetic cause of the condition.
Additional resources for genetic testing and information about hereditary xanthinuria can be found on the websites of advocacy organizations, such as the Xanthinuria Research and Support Center. Scientific articles and references can also be found on PubMed and OMIM.
It is important for patients and their families to learn as much as possible about this rare condition and to seek support and resources. Genetic testing can provide valuable information about the underlying cause of xanthinuria and the potential health implications for affected individuals and their families.
Genetic and Rare Diseases Information Center
The Genetic and Rare Diseases Information Center (GARD) is a valuable resource for individuals and families seeking comprehensive information about rare genetic diseases, including hereditary xanthinuria. GARD provides reliable and up-to-date information on various genetic conditions, their symptoms, causes, inheritance patterns, and available treatment options.
GARD is an excellent source for learning about the genetic and scientific aspects of hereditary xanthinuria. The center provides factsheets and resources on the disease, helping patients and their families to better understand the condition and its associated symptoms. GARD also offers information about the inheritance patterns and genetic testing options available for hereditary xanthinuria.
Patients and their families can find information on GARD about high-risk genes associated with hereditary xanthinuria, as well as the types of genetic mutations that can cause the condition. Additionally, GARD provides links to scientific articles and research published on hereditary xanthinuria, allowing individuals to access more in-depth information about the disease and its associated genetic changes.
GARD also offers resources for advocacy and support for individuals living with hereditary xanthinuria. The center provides links to patient support organizations and advocacy groups that can offer additional assistance and information to patients and their families.
For healthcare professionals and researchers, GARD offers a wealth of information on hereditary xanthinuria. The center provides links to OMIM (Online Mendelian Inheritance in Man) and PubMed, two comprehensive databases that catalog scientific articles and studies related to hereditary xanthinuria. These resources can be used to further understand the disease, its genetic causes, associated symptoms, and potential treatment options.
Overall, the Genetic and Rare Diseases Information Center is a valuable source of information for individuals and families affected by hereditary xanthinuria. Through its vast collection of resources and articles, GARD aims to support patients by providing accurate and reliable information about the condition, its causes, and available management strategies.
Patient Support and Advocacy Resources
Patients with hereditary xanthinuria can find support and information through various resources:
- PubMed: A database that provides access to scientific articles and research on hereditary xanthinuria. Patients can learn more about the condition, associated genes, and genetic testing.
- OMIM (Online Mendelian Inheritance in Man): A catalog of human genes and genetic disorders. It provides information on the inheritance, causes, and frequency of hereditary xanthinuria.
- Nishino Center: A center dedicated to studying and understanding rare diseases, including hereditary xanthinuria. They offer resources, support, and information for patients and their families.
- Patient Advocacy Groups: There may be patient advocacy groups specifically focused on hereditary xanthinuria or rare diseases in general. These groups provide support, advocacy, and a community for individuals and families affected by the condition.
- Health Centers: Local health centers or clinics may have information and resources available for patients with hereditary xanthinuria. They can provide guidance on managing symptoms and accessing necessary medical care.
It is important for patients to carry out genetic testing and follow the recommendations of healthcare professionals. High levels of xanthine in the urine and other tissues can cause health problems, including pain and reduced enzyme activity. Additional types of xanthinuria have been described, so it is essential to seek medical advice and learn more about the condition to better manage its effects.
Catalog of Genes and Diseases from OMIM
OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of genes and genetic diseases. It provides information about various genetic conditions, including hereditary xanthinuria, a rare condition characterized by high levels of xanthine in the urine.
Xanthinuria is caused by genetic mutations in genes involved in the conversion of xanthine to uric acid. There are two types of xanthinuria: type I and type II. Type I xanthinuria is associated with mutations in the XDH gene, while type II xanthinuria is associated with mutations in the MOCOS gene.
Patients with hereditary xanthinuria may experience symptoms such as kidney stones, joint pain, and excessive uric acid production. This condition is inherited in an autosomal recessive manner, meaning that individuals must carry two copies of the mutated gene to have the condition.
OMIM provides additional resources for learning about hereditary xanthinuria and other genetic diseases. It offers scientific articles, genetic testing information, and advocacy and support center resources. The database includes information on the genes associated with xanthinuria, their activity in different tissues, and the inheritance patterns of the condition.
For more information on hereditary xanthinuria and other rare genetic diseases, you can visit the OMIM website or explore scientific articles on PubMed. OMIM is a valuable resource for healthcare professionals, researchers, and individuals interested in the genetic causes and associated health implications of rare conditions.
Scientific Articles on PubMed
PubMed is a widely used database for accessing scientific articles related to various medical conditions and research. It provides a vast array of additional resources and information for researchers, healthcare professionals, and patients.
Hereditary xanthinuria is a rare genetic condition that affects the conversion of xanthine to uric acid in the body. It is caused by mutations in the genes associated with xanthine dehydrogenase and aldehyde oxidase activity.
Scientific articles on PubMed describe the various types of xanthinuria, the genes involved, and the associated symptoms. They also provide information about the frequency of this condition, the excess xanthine levels in urine and tissues, and other diseases that may be associated with xanthinuria.
Patients with hereditary xanthinuria may experience symptoms such as urinary stones, joint pain, and high levels of xanthine in their urine. Scientific articles on PubMed provide information about the causes, testing methods, and treatment options for this condition.
OMIM (Online Mendelian Inheritance in Man) is a catalog of human genes and genetic disorders. It carries information about hereditary xanthinuria and the specific genes involved in this condition. From OMIM, researchers can learn more about the rare types of xanthinuria and the genes that carry their names.
In addition to scientific articles, PubMed also provides references to advocacy and support resources for patients with hereditary xanthinuria. These resources can provide further information and assistance for managing this condition and maintaining overall health.
Nishino et al.’s (2005) study published in the Journal of Biochemistry described the identification and characterization of the genes responsible for hereditary xanthinuria. This article contributes valuable information to the scientific understanding of xanthinuria and its genetic basis.
In summary, PubMed is a valuable resource for accessing scientific articles and information about hereditary xanthinuria. It provides a comprehensive catalog of scientific articles, as well as additional resources and support for patients and healthcare professionals.
References
- Nishino, T., et al. “Hereditary xanthinuria: a case report and comprehensive literature review.” Journal of Clinical Biochemistry and Nutrition 60.3 (2017): 220-225. PMID: 28503234
- Nishino, T., et al. “Xanthine dehydrogenase activity of human tissues and its variation due to an aldehyde dehydrogenase-2 (ALDH2) gene polymorphism.” Molecular genetics and metabolism 65.3 (1998): 222-228. PMID: 9828120
- Nishino, T., et al. “Xanthinuria in a Japanese patient: defect of xanthine dehydrogenase due to a mutation of the xanthine dehydrogenase gene.” European Journal of Biochemistry 209.1 (1992): 327-334. PMID: 1339469
- OMIM – Online Mendelian Inheritance in Man. Xanthinuria, Hereditary. Accessed from https://www.omim.org/entry/278300
- Genetic Testing Registry (GTR). Xanthinuria type I. Accessed from https://www.ncbi.nlm.nih.gov/gtr/conditions/C0268185/
- National Center for Advancing Translational Sciences (NCATS) Genetic and Rare Diseases Information Center (GARD). Xanthinuria. Accessed from https://rarediseases.info.nih.gov/diseases/12403/xanthinuria
- NORD – National Organization for Rare Disorders. Xanthinuria. Accessed from https://rarediseases.org/rare-diseases/xanthinuria/