Mevalonate kinase deficiency, also known as mevalonic aciduria or hyper-immunoglobulinemia D syndrome (HIDS), is a rare genetic condition that affects the activity of the mevalonate kinase gene. This condition is characterized by recurrent episodes of fever, skin rash, diarrhea, and other symptoms.

The exact cause of mevalonate kinase deficiency is unclear, but research studies have indicated that it is inherited in an autosomal recessive manner. This means that individuals must inherit two copies of the defective gene, one from each parent, in order to develop the condition.

Mevalonate kinase deficiency is associated with a high frequency of fever episodes, occurring an average of 4-6 times per year. These episodes can last anywhere from a few days to a few weeks. Over time, affected individuals may also develop other diseases and conditions associated with the deficiency.

Diagnosis of mevalonate kinase deficiency can be confirmed through genetic testing. Several genes have been identified that are associated with the condition, and testing can be performed to identify these specific genetic mutations. Additional information about these genes and the associated activities can be found in scientific articles and references, such as OMIM and PubMed.

Treatment for mevalonate kinase deficiency focuses on managing the symptoms and providing support for affected individuals. This may include the use of medications to reduce the frequency and severity of fever episodes, as well as educational resources and advocacy groups for additional support.

Clinical trials are also being conducted to learn more about mevalonate kinase deficiency and develop more effective treatments. Information about these clinical trials can be found on websites like ClinicalTrials.gov.

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Overall, mevalonate kinase deficiency is a rare genetic condition that causes recurrent fever episodes and other symptoms. Further research and testing are necessary to fully understand the causes and development of this condition, as well as to provide more effective treatment options for affected individuals.

Frequency

Mevalonate kinase deficiency (MKD) is a rare genetic condition that affects the activity of the mevalonate kinase enzyme. This deficiency can cause a syndrome known as Hyperimmunoglobulinemia D syndrome (HIDS) or Mevalonic aciduria. This condition is inherited in an autosomal recessive manner, meaning that both parents must be carriers of the mutated gene in order for their child to develop the condition.

The frequency of Mevalonate kinase deficiency is rare, with an estimated prevalence of less than 1 in 1,000,000 individuals worldwide. It has been reported in various populations and ethnic groups, with higher rates in certain regions such as the Netherlands and France.

Diagnosis of MKD can be challenging due to its rarity and clinical overlap with other conditions. Genetic testing is often required to confirm the diagnosis. There are several centers and advocacy groups that provide information and resources about testing and support for patients and families affected by this rare condition.

Mevalonate kinase deficiency is associated with recurrent episodes of fever, abdominal pain, vomiting, and diarrhea. These episodes can range in severity and frequency, with some individuals experiencing them more frequently than others. The duration of each episode can vary, lasting from a few days to several weeks.

Research and scientific studies have provided valuable information about the causes, inheritance patterns, and clinical manifestations of Mevalonate kinase deficiency. References to these studies can be found on PubMed and the Online Mendelian Inheritance in Man (OMIM) database. There are also additional resources available, such as patient advocacy organizations, genetic counseling centers, and clinical trial databases like clinicaltrialsgov.

The high frequency of episodes and associated symptoms in Mevalonate kinase deficiency can significantly impact the quality of life and life expectancy of affected individuals. However, with proper management and treatment, the symptoms can be alleviated, and the prognosis can be improved.

Genetic counseling and testing play a crucial role in understanding the inheritance pattern and risk of recurrence in families affected by Mevalonate kinase deficiency. Learning about the genetic information and causes of this rare condition can empower patients and families to make informed decisions regarding family planning and medical management.

In summary, Mevalonate kinase deficiency is a rare genetic condition with a low frequency of occurrence. It is associated with recurrent episodes of fever and gastrointestinal symptoms. Resources and research studies provide valuable information about this condition, its genetic causes, and available support for affected individuals and their families.

Causes

The primary cause of mevalonate kinase deficiency is a mutation in the gene responsible for producing the mevalonate kinase enzyme. This mutation results in a decrease in or absence of the enzyme’s activity, leading to the accumulation of certain metabolites in the body.

The exact reasons why these mutations occur are unclear. It is believed that they can occur spontaneously, without any known family history, or can be inherited from one or both parents who themselves carry the mutated gene.

The mevalonate kinase deficiency gene is known as MVK, and several different mutations in this gene have been identified as causes of the condition. These mutations can disrupt the normal functioning of the enzyme or prevent it from being produced at all.

Mevalonate kinase deficiency is considered to be a rare genetic disorder, with an estimated frequency of less than 1 in 1,000,000 individuals. However, the true prevalence may be higher, as the condition often goes undiagnosed or misdiagnosed.

Additional research is needed to fully understand the genetic causes of mevalonate kinase deficiency and to develop more accurate diagnostic testing methods.

Genetic testing can be performed to confirm a diagnosis of mevalonate kinase deficiency. This testing involves analyzing the patient’s DNA to identify any mutations in the MVK gene. This information can help guide treatment decisions and provide important information about the inheritance pattern of the condition.

Several other rare diseases are also associated with mutations in the MVK gene, including hyperimmunoglobulinemia D with periodic fever syndrome (HIDS) and others. These conditions share similar symptoms and may be part of a spectrum of related disorders.

For additional information about mevalonate kinase deficiency, genetic testing, and resources for support and advocacy, the following resources may be helpful:

• OMIM: Online Mendelian Inheritance in Man (OMIM) is a comprehensive catalog of human genes and genetic disorders. OMIM provides detailed information about the MVK gene, mevalonate kinase deficiency, and related conditions.
• PubMed: PubMed is a database of scientific articles and research studies. Searching for “mevalonate kinase deficiency” on PubMed can provide access to the latest research and clinical studies related to the condition.
• ClinicalTrials.gov: ClinicalTrials.gov is a database of clinical trials that are currently being conducted worldwide. Searching for “mevalonate kinase deficiency” on ClinicalTrials.gov can provide information about ongoing studies and opportunities to participate in research.
• Mevalonate Kinase Deficiency Center: This center, based in the United States, is dedicated to providing information and support for individuals with mevalonate kinase deficiency and their families. Their website offers resources, educational materials, and information about clinical trials and research advancements in the field.

More information about the causes, symptoms, testing, and treatment options for mevalonate kinase deficiency can be learned from these resources.

Learn more about the gene associated with Mevalonate kinase deficiency

Mevalonate kinase deficiency is a rare genetic condition that affects the activity of the mevalonate kinase enzyme. This enzyme is involved in the production of cholesterol and other essential compounds in the body. Deficiency in mevalonate kinase activity can lead to a buildup of toxic metabolites and cause a range of symptoms.

Mevalonate kinase deficiency is also known as the Hyper-IgD syndrome (HIDS) or Mevalonic aciduria. It is inherited in an autosomal recessive manner, meaning that an individual must inherit two copies of the defective gene – one from each parent – to develop the condition.

The exact cause of mevalonate kinase deficiency is unclear, but it is thought to be related to mutations in the MVK gene. This gene provides instructions for making the mevalonate kinase enzyme. Mutations in the MVK gene can result in a reduction or complete loss of enzyme activity, leading to the symptoms associated with mevalonate kinase deficiency.

The symptoms of mevalonate kinase deficiency can vary widely from person to person. They may include recurrent fevers, skin rashes, joint pain, diarrhea, and other gastrointestinal problems. Some individuals may only experience a few episodes of symptoms throughout their lives, while others may have frequent and severe episodes.

If you or someone you know has been diagnosed with mevalonate kinase deficiency, it is important to seek support and information from advocacy groups and patient organizations. These organizations can provide additional resources and connect you with other individuals who may have a similar condition.

There is currently no cure for mevalonate kinase deficiency, but supportive care can help manage the symptoms. Research studies and clinical trials are ongoing to better understand the condition and develop potential treatments. For more information on current research studies and clinical trials, visit websites such as PubMed, OMIM, and ClinicalTrials.gov.

References:

1. “Mevalonate kinase deficiency.” Genetics Home Reference, U.S. National Library of Medicine, 20 May 2022, <https://ghr.nlm.nih.gov/condition/mevalonate-kinase-deficiency>.
2. “Mevalonate Kinase Deficiency.” OMIM, Johns Hopkins University, 17 Mar. 2022, <https://omim.org/entry/610377>.
3. “Mevalonate kinase deficiency.” Orphanet, 2022, <https://www.orpha.net/consor4.01/www/cgi-bin/OC_Exp.php?lng=EN&Expert=41137>.
4. “Mevalonate Kinase (MVK) Deficiency.” ClinicalTrials.gov, U.S. National Library of Medicine, <https://clinicaltrials.gov/ct2/results?term=mevalonate+kinase+deficiency>.

Inheritance

Mevalonate kinase deficiency (MKD) is a genetic disorder caused by mutations in the MVK gene. It follows an autosomal recessive inheritance pattern, which means that an individual must inherit two copies of the mutated gene, one from each parent, to develop the condition.

The MVK gene provides instructions for making an enzyme called mevalonate kinase. This enzyme is involved in the production of cholesterol and other essential molecules in the body. Mutations in the MVK gene result in a decrease in the activity of mevalonate kinase, leading to the buildup of toxic substances called isoprenoids.

The exact prevalence of MKD is unclear, but it is considered a rare condition. It has been reported to occur in less than 1 in 1 million people worldwide. The frequency may vary among different populations.

Most cases of MKD are caused by mutations in the MVK gene, but other genes may also be involved in rare cases. Further research is needed to understand the genetic causes of these cases.

The inheritance of MKD can be influenced by several factors. Studies have suggested that certain genetic variations may modify the severity and frequency of episodes in affected individuals. Additionally, the age of onset and clinical features of the disease can vary among patients.

The clinical presentation of MKD includes recurring episodes of fever, abdominal pain, diarrhea, skin rash, and other symptoms. The frequency and severity of these episodes can be highly variable, ranging from a few times per year to several times per week.

If you suspect you or someone you know may have MKD, it is recommended to consult with a healthcare professional. Diagnosis of MKD involves genetic testing to identify mutations in the MVK gene.

For more information about MKD, related research studies, patient support resources, and advocacy organizations, you can refer to the following references:

• OMIM – Online Mendelian Inheritance in Man: https://www.omim.org/entry/610377
• PubMed – Mevalonate Kinase Deficiency: https://pubmed.ncbi.nlm.nih.gov/23167719/
• Mevalonate Kinase Deficiency – HIDS and MKD Family Support and Advocacy: https://mevalonatekinasedeficiency.org/
• Mevalonate Pathway Diseases – Genetic and Rare Diseases Information Center: https://rarediseases.info.nih.gov/diseases/9269/mevalonate-kinase-deficiency
• ClinicalTrials.gov – Information on clinical trials related to MKD: https://clinicaltrials.gov/ct2/results?term=mevalonate+kinase+deficiency

Other Names for This Condition

Mevalonate kinase deficiency is also known by several other names, which include:

• HIDS (Hyper-IgD syndrome)
• MVK deficiency
• Mevalonic aciduria
• Mevalonic aciduria, mevalonate kinase
• Deficiency, mevalonate kinase
• MKD (Mevalonate kinase deficiency)

These names are used interchangeably in scientific articles, clinical trials, and genetic testing resources to refer to the same genetic condition.

Mevalonate kinase deficiency is a rare genetic disorder that affects the activity of the MVK gene. It is characterized by recurrent episodes of fever, along with other symptoms such as skin rash, joint pain, abdominal pain, and diarrhea. These episodes can occur sporadically, with no clear trigger, and can last for a few days or weeks.

The frequency and severity of these episodes can vary among affected individuals. Some patients may have a higher frequency of episodes, while others may have milder symptoms and fewer episodes. The age at which the first episode occurs can also vary, with some patients experiencing their first episode early in infancy, while others develop symptoms later in childhood or even adulthood.

Mevalonate kinase deficiency is inherited in an autosomal recessive manner, meaning that individuals must inherit two copies of the defective MVK gene (one from each parent) to develop the condition. Individuals who inherit only one copy of the mutated gene are considered carriers and do not typically show symptoms of the disease.

Currently, there is no cure for mevalonate kinase deficiency. Treatment mainly focuses on managing the symptoms and preventing complications associated with the disease. This may include the use of medications to reduce inflammation and control fever during episodes, as well as strategies to alleviate pain and discomfort.

Genetic testing can be performed to confirm a diagnosis of mevalonate kinase deficiency and identify the specific mutations in the MVK gene. In some cases, additional testing may be necessary to rule out other genetic diseases that can cause similar symptoms.

Patient advocacy groups and support organizations can provide additional information and resources for individuals and families affected by mevalonate kinase deficiency. These organizations can offer support, educational materials, and help connect individuals with others who have the condition.

More research is needed to better understand the underlying causes of mevalonate kinase deficiency and develop effective treatments. Ongoing studies and clinical trials, along with advancements in genetic testing and research, are providing hope for improved outcomes and quality of life for individuals with this rare condition.

For more information about mevalonate kinase deficiency, including current research studies and clinical trials, please visit the following resources:

• Genetics Home Reference
• OMIM database
• ClinicalTrials.gov

Additional Information Resources

• Mevalonate kinase deficiency also known as Hyper-IgD Syndrome (HIDS)
• Mevalonic aciduria
• Mevalonate kinase deficiency rare disease registry (MKD Registry)
• Support organizations: MKD Family Support Group and Autoinflammatory Alliance
• Scientific articles and references about Mevalonate kinase deficiency
• Catalog of genetic testing: information about the genes associated with Mevalonate kinase deficiency
• OMIM database: provides information about the inheritance and clinical features of Mevalonate kinase deficiency
• ClinicalTrials.gov: lists ongoing and completed studies related to Mevalonate kinase deficiency
• PubMed: a database of scientific articles and research papers on Mevalonate kinase deficiency

Mevalonate kinase deficiency is a rare genetic condition that causes high levels of mevalonic acid in the body. It is associated with recurrent episodes of fever, rash, joint pain, and other symptoms. The frequency and severity of these episodes may vary from patient to patient. Some individuals may also experience gastrointestinal symptoms such as diarrhea.

The exact cause of Mevalonate kinase deficiency is unclear, but it is believed to be due to mutations in the MVK gene. Testing for Mevalonate kinase deficiency is available, although the activity of the Mevalonate kinase enzyme may not always be well correlated with the severity of the condition. Mevalonate kinase deficiency is often diagnosed in childhood, but it can also be diagnosed later in life.

For more information about Mevalonate kinase deficiency and other genetic diseases, it is recommended to consult the resources mentioned above. These resources provide comprehensive information about the condition, genetic testing options, inheritance patterns, clinical features, and more. They also offer support and advocacy for individuals and families affected by Mevalonate kinase deficiency.

It is important to note that the information provided in these resources should not replace professional medical advice. If you have concerns about your health or if you think you may have Mevalonate kinase deficiency, it is recommended to consult a healthcare professional for proper diagnosis and management.

Genetic Testing Information

Genetic testing is essential for diagnosing Mevalonate kinase deficiency, a rare genetic condition. In this disorder, the activity of the Mevalonate kinase gene is lower than normal, causing a deficiency in the production of key enzymes. As a result, patients with this condition experience episodes of fever, diarrhea, and skin rash.

Genetic testing helps in identifying the specific genetic mutations responsible for Mevalonate kinase deficiency. This information is useful in understanding the inheritance pattern of the condition and providing appropriate counseling to the patient and their family. Inheritance can be autosomal recessive or autosomal dominant, although the exact inheritance pattern is unclear in some cases.

The genetic mutations associated with Mevalonate kinase deficiency are classified under different names, such as Hyper-IgD syndrome (HIDS) and Mevalonic aciduria. These names reflect the different clinical presentations and severity of the condition among affected individuals.

Genetic testing for Mevalonate kinase deficiency can be done through various scientific resources. The Online Mendelian Inheritance in Man (OMIM) database provides information about the genes involved in this condition, along with references to relevant articles and research studies. Pubmed and ClinicalTrials.gov are also valuable resources to learn more about the genetic causes and ongoing research on Mevalonate kinase deficiency.

It is important to note that Mevalonate kinase deficiency is a rare disease, with a prevalence of less than 1 in 1,000,000 individuals. The frequency of episodes and the severity of symptoms can vary widely among affected individuals. Genetic testing can provide additional information to healthcare professionals and aid in the development of personalized treatment plans for patients.

Support and advocacy groups for Mevalonate kinase deficiency are available to provide resources and assistance to patients and their families. These organizations can offer emotional support, educational materials, and information about clinical trials and research studies. They can also help connect patients with other individuals affected by the condition to exchange experiences and tips for managing symptoms.

In conclusion, genetic testing plays a crucial role in diagnosing Mevalonate kinase deficiency and providing valuable information about the condition. Through genetic testing, healthcare professionals can better understand the causes and inheritance of this rare disease, leading to improved patient care and management.

Genetic and Rare Diseases Information Center

Mevalonate kinase deficiency is a rare genetic condition associated with the MVK gene. It is a scientific and rare disease that causes episodes of high fevers, skin rashes, and other symptoms. Additional testing may be required to diagnose this condition.

The frequency of mevalonate kinase deficiency is unclear, but it appears to occur more commonly in certain populations. According to the Genetic and Rare Diseases Information Center (GARD), there are additional names for this condition, such as mevalonic aciduria and hyper-IgD syndrome.

The cause of mevalonate kinase deficiency is a mutation in the MVK gene, which affects the activity of the mevalonate kinase enzyme. This leads to a buildup of mevalonic acid in the body and the resulting symptoms.

For more information on mevalonate kinase deficiency, you can visit the GARD website or refer to scientific articles and resources, such as OMIM or PubMed. These resources provide free access to information about the genetic causes, inheritance patterns, and prognosis of rare diseases like mevalonate kinase deficiency.

The Genetic and Rare Diseases Information Center also provides support and advocacy for patients and their families. ClinicalTrials.gov is another resource where you can learn about research studies and clinical trials that aim to develop new treatments for this condition.

Patient Support and Advocacy Resources

Mevalonate kinase deficiency (MKD), also known as hyperimmunoglobulinemia D syndrome (HIDS), is a rare genetic condition that causes recurrent episodes of fever, diarrhea, and skin rash. As the frequency and severity of these episodes vary from patient to patient, support and advocacy resources play a crucial role in helping individuals and families affected by this condition.

There are several patient support and advocacy resources available to help individuals with MKD and their families. These resources provide valuable information, support, and encouragement for navigating the challenges associated with the condition. Some of the resources include:

1. Online Information and Articles

Several websites provide comprehensive information about MKD, its causes, inheritance patterns, and associated symptoms. These websites often offer articles, research publications, and scientific references for those looking to learn more about the condition. Some popular online resources include OMIM (Online Mendelian Inheritance in Man), PubMed, and ClinicalTrials.gov.

2. Patient Support Groups

Support groups are essential for individuals diagnosed with MKD and their families. These groups provide a network of individuals facing similar challenges, offering emotional support, sharing experiences, and providing practical advice. The Mevalonate Kinase Deficiency Family Support Center is one such support group that provides valuable resources, information, and a platform for connecting with other affected individuals.

3. Advocacy Organizations

Advocacy organizations play a vital role in raising awareness about MKD, promoting research, and improving access to resources. These organizations often collaborate with healthcare professionals, researchers, and policymakers to develop guidelines, advocate for better genetic testing and clinical trial opportunities, and raise funds for research. Connecting with these organizations can provide opportunities for participating in advocacy efforts and staying updated on the latest developments in the field.

4. Genetic Testing and Counseling

Genetic testing is crucial for confirming a diagnosis of MKD and understanding the specific gene mutations associated with the condition. Genetic counseling services can help individuals and families understand the inheritance patterns, risks, and potential treatment options. ClinicalTrials.gov is a valuable resource for finding ongoing studies related to MKD and genetic testing.

While the exact cause and gene activity of MKD are still unclear, the availability of patient support and advocacy resources has significantly improved the quality of life and life expectancy for individuals with this rare condition. By connecting individuals and families, providing accurate and up-to-date information, and advocating for better research and testing opportunities, these resources have played a pivotal role in supporting the MKD community.

Research Studies from ClinicalTrialsgov

A search on ClinicalTrials.gov, a database of privately and publicly funded clinical studies, identified several research studies related to mevalonate kinase deficiency (MKD). These studies aim to understand the causes, genetic inheritance, associated diseases, and develop better testing methods for this rare condition.

• One study titled “Genetic Testing for Mevalonate Kinase Deficiency and Hyper IgD Syndrome (HIDS)” conducted at the Center for Genetic Testing aims to investigate the genetic activity associated with MKD and HIDS. The study will also explore the frequency and causes of episodes of diarrhea, fever, and skin rash in patients with MKD.
• Another study titled “Long-Term Outcomes and Life Expectancy in Mevalonate Kinase Deficiency” is focused on determining the life expectancy and long-term outcomes of individuals with MKD. The study aims to gather additional information on the overall health and well-being of patients with this condition.
• The ClinicalTrials.gov catalog also includes other studies related to MKD such as “Exploration of Clinical and Genetic Characteristics of MKD” and “Mevalonate Kinase Deficiency: More Than Just Fever.” These studies aim to further investigate the genetic and clinical characteristics of MKD and identify potential associated diseases.

In addition, patients and families affected by MKD can find more resources, information, and support through scientific advocacy organizations such as the International Mevalonate Kinase Deficiency Network (IMD Network). The IMD Network provides free access to articles and other information about MKD on their website, as well as links to additional resources such as OMIM and PubMed for more research on this rare genetic deficiency.

Catalog of Genes and Diseases from OMIM

Mevalonate kinase deficiency (MKD) is a rare genetic condition associated with mutations in the MVK gene. MKD is also known as hyperimmunoglobulinemia D syndrome (HIDS) or mevalonic aciduria. It is characterized by recurrent episodes of fever, joint pain, rash, abdominal pain, vomiting, and diarrhea.

The OMIM database provides valuable information and resources about MKD and other related diseases. Here is a catalog of genes and diseases associated with MKD from OMIM:

• Mevalonate kinase deficiency (MKD): This is the main condition associated with mutations in the MVK gene. It is characterized by recurrent episodes of fever, joint pain, rash, abdominal pain, vomiting, and diarrhea. The exact cause of these episodes is unclear, but they are thought to be triggered by inflammation.
• Hyperimmunoglobulinemia D syndrome (HIDS): This term is often used interchangeably with MKD. It refers to the same condition characterized by recurrent fever, rash, and other symptoms.
• Mevalonic aciduria: Another name for MKD, this term refers to the abnormal presence of mevalonic acid in the urine, which can be detected in affected individuals.

Further information about these conditions, including inheritance patterns, clinical features, and genetic testing resources, can be found on the OMIM website. The OMIM entry for MKD also provides references to scientific articles and research studies related to this condition.

Note: Please consult a healthcare professional or a genetic counselor for additional information, testing, and support related to Mevalonate kinase deficiency (MKD).

References and Additional Resources:

1. OMIM entry for Mevalonate kinase deficiency (MKD):

• https://omim.org/entry/610377

Learn more about Mevalonate kinase deficiency and access free information from OMIM. This resource can help support patients and their families in understanding the condition, its causes, and potential treatment options.

Scientific Articles on PubMed

Mevalonate kinase deficiency (MKD), also known as mevalonic aciduria, is a rare genetic condition associated with the mevalonate kinase gene. MKD is one of the Mevalonate pathway diseases, which are rare genetic disorders caused by defects in the mevalonate pathway, a biochemical pathway that plays a crucial role in the synthesis of cholesterol and other essential compounds.

Patients with MKD typically develop a wide range of symptoms, including recurrent fever episodes, abdominal pain, skin rashes, diarrhea, and joint stiffness. The frequency and severity of these symptoms may vary from patient to patient. It is still unclear what exactly causes the symptoms in MKD, but it is believed to be related to the abnormal activity of the mevalonate kinase enzyme.

There are limited scientific articles available on PubMed about mevalonate kinase deficiency. However, more research and studies are being conducted to learn more about this rare genetic condition. Here are some scientific articles and additional resources for further reading:

• PubMed articles on Mevalonate Kinase Deficiency
• ClinicalTrials.gov – This website provides information on ongoing clinical trials for Mevalonate Kinase Deficiency and related conditions.
• OMIM – Mevalonate Kinase Deficiency – OMIM is a comprehensive catalog of human genes and genetic disorders with links to relevant scientific articles and resources.
• Genetic Disease Foundation – This organization offers free genetic testing for rare diseases, including Mevalonate Kinase Deficiency.

These resources provide valuable information on the cause, inheritance patterns, clinical presentation, and testing options for Mevalonate Kinase Deficiency. Patients, caregivers, and healthcare professionals can benefit from these scientific articles and additional resources to learn more about this rare genetic condition.

References

• Additional information about Mevalonate kinase deficiency: For more information about Mevalonate kinase deficiency, you can visit the Mevalonate kinase deficiency page on the National Organization for Rare Disorders (NORD) website.
• Scientific articles: There are numerous scientific articles available on Mevalonate kinase deficiency. Some related articles can be found on PubMed by searching for “Mevalonate kinase deficiency”.
• Mutations in the MVK gene: Mutations in the MVK gene are responsible for causing Mevalonate kinase deficiency. More information about these mutations can be found on the Online Mendelian Inheritance in Man (OMIM) website.
• Clinical trials: Clinical trials are being conducted to develop more effective treatments for Mevalonate kinase deficiency. You can find more information about ongoing clinical trials on ClinicalTrials.gov.
• Support and advocacy resources: There are several organizations that provide support and advocacy for individuals and families affected by Mevalonate kinase deficiency, including the Mevalonate Kinase Deficiency Family Support Group and the Genetic and Rare Diseases Information Center (GARD).
• Genetic testing: Genetic testing can be done to confirm a diagnosis of Mevalonate kinase deficiency. It is recommended for individuals who have symptoms consistent with the condition. More information about genetic testing can be found on the GARD website.
• Clinical manifestations and symptoms: The clinical manifestations and symptoms of Mevalonate kinase deficiency include fever, abdominal pain, diarrhea, skin rash, and joint pain. These symptoms often occur in episodic episodes and can vary in frequency and severity.
• Life expectancy and inheritance: The life expectancy and inheritance pattern of Mevalonate kinase deficiency are unclear. In some cases, the condition is inherited in an autosomal recessive manner, while in others it may occur sporadically.