Deoxyguanosine kinase deficiency, also known as dCK deficiency, is a rare genetic condition that causes neurological and hepatic abnormalities in affected individuals. It is caused by mutations in the DGUOK gene, which encodes the deoxyguanosine kinase enzyme. This enzyme is responsible for the phosphorylation of deoxyguanosine, a process necessary for the synthesis of DNA and the maintenance of mitochondrial function.

The first case of deoxyguanosine kinase deficiency was reported in 1997, and since then, several additional cases have been documented in the scientific literature. The condition is inherited in an autosomal recessive manner, meaning that both copies of the DGUOK gene must be mutated for the disease to develop. Due to its rarity and diverse clinical presentation, deoxyguanosine kinase deficiency may go unrecognized or misdiagnosed, leading to delayed or inadequate treatment.

Children with deoxyguanosine kinase deficiency may develop symptoms shortly after birth, including neurological abnormalities such as developmental delay, intellectual disability, and seizures. Hepatic dysfunction, characterized by elevated liver enzymes and hepatic steatosis, is also commonly observed in affected individuals. In some cases, the condition may become apparent during viral infections or periods of metabolic stress, leading to severe depletion of mitochondrial DNA and life-threatening symptoms.

Diagnosis of deoxyguanosine kinase deficiency can be challenging, as the condition is often mistaken for other neurological or hepatic diseases. Genetic testing is the most reliable method for confirming the diagnosis, and targeted sequencing of the DGUOK gene is recommended for patients with suspected deoxyguanosine kinase deficiency. Testing can be performed at specialized genetic testing centers and may require the analysis of other genes associated with mitochondrial DNA depletion disorders.

There is currently no specific treatment for deoxyguanosine kinase deficiency, and management is supportive and aimed at minimizing the symptoms and complications associated with the condition. Regular monitoring of liver function and mitochondrial DNA levels is recommended, and antiepileptic medications may be prescribed to control seizures. In severe cases, liver transplantation may be considered as a treatment option.

Although deoxyguanosine kinase deficiency is a rare condition, the advancement of genetic testing technologies has allowed for its more frequent identification. The increased knowledge of the disease has prompted the development of advocacy resources and support groups for affected individuals and their families. Scientific articles and clinical resources about deoxyguanosine kinase deficiency can be found in online databases such as PubMed, OMIM, and the Gene Reviews catalog.

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Frequency

Deoxyguanosine kinase deficiency is a rare genetic condition that is associated with neurological abnormalities and hepatic depletion. The frequency of this deficiency is not precisely known, but it is considered to be a rare disorder.

There are limited resources available on this condition, and additional research is needed for a better understanding of its frequency and associated genes. However, a few articles and studies have been published on this topic.

One study by Horvath et al. found that the deficiency of deoxyguanosine kinase causes neurological symptoms and hepatic depletion in affected patients. This study identified mutations in the DGUOK gene as the cause of this condition.

References to learn more about deoxyguanosine kinase deficiency and its frequency can be found in resources such as OMIM (Online Mendelian Inheritance in Man) and PubMed. These databases provide scientific articles and information on inherited diseases and genetic conditions.

Advocacy organizations and support groups can also provide more information on deoxyguanosine kinase deficiency and its frequency. They may offer resources, support, and additional references for further reading.

In newborns with deoxyguanosine kinase deficiency, the frequency of clinical symptoms and neurological abnormalities can vary. Some infants may develop symptoms soon after birth, while others may show signs of the condition later in infancy or childhood.

Infection, particularly viral infection, can exacerbate the symptoms in individuals with deoxyguanosine kinase deficiency. It is important to be aware of this association and take precautions to prevent or manage infections in affected individuals.

Genetic testing is available for the diagnosis of deoxyguanosine kinase deficiency. This testing can confirm the presence of mutations in the DGUOK gene and help determine the inheritance pattern of the condition.

Overall, due to the rare nature of deoxyguanosine kinase deficiency, there is limited information on its frequency and associated genes. Further research and studies are needed to uncover more about this condition and its implications.

Causes

Deoxyguanosine kinase deficiency is a rare genetic condition caused by mutations in the DGUOK gene. This gene provides instructions for making an enzyme called deoxyguanosine kinase, which is responsible for the metabolism of deoxyguanosine, a building block of DNA. Mutations in the DGUOK gene result in a deficiency or complete absence of functional deoxyguanosine kinase enzyme, leading to the accumulation of deoxyguanosine in the body.

The accumulation of deoxyguanosine can have detrimental effects, particularly in cells that rely heavily on mitochondrial DNA (mtDNA) for their function, such as liver cells. Depletion of mtDNA leads to mitochondrial dysfunction and impairs the production of energy within affected cells.

Patients with deoxyguanosine kinase deficiency may develop hepatic (liver) dysfunction and neurological symptoms due to mitochondrial dysfunction. The severity of symptoms can vary widely, ranging from mild liver dysfunction to severe liver failure and encephalopathy.

Other associated genes have also been found to be involved in this condition. For example, mutations in the DGUOK gene can be associated with mutations in other genes such as MPV17 and SUCLA2, further contributing to the development of symptoms.

Inheritance of deoxyguanosine kinase deficiency follows an autosomal recessive pattern, which means that both copies of the DGUOK gene must have mutations for the condition to be present. Individuals with only one mutated copy of the gene are considered carriers and are typically asymptomatic.

More information about the causes and genetics of deoxyguanosine kinase deficiency can be found in scientific resources such as PubMed, OMIM (Online Mendelian Inheritance in Man), and the Genetic and Rare Diseases Information Center (GARD). These resources can provide more in-depth information about the specific genes and mutations associated with the condition, as well as information on genetic testing and counseling.

Learn more about the gene associated with Deoxyguanosine kinase deficiency

Deoxyguanosine kinase deficiency is a rare genetic condition caused by a deficiency in the deoxyguanosine kinase (DGUOK) gene. This gene provides instructions for making an enzyme called deoxyguanosine kinase, which is involved in the breakdown and recycling of certain molecules in the body.

Individuals with DGUOK deficiency often experience symptoms such as poor growth, developmental delay, liver dysfunction, and muscle weakness. This condition is usually detected in newborns who develop symptoms soon after birth or in early infancy.

The gene associated with DGUOK deficiency, DGUOK, is located on chromosome 2. Mutations in this gene can lead to a depletion of mitochondrial DNA (mtDNA) in liver cells, causing hepatic dysfunction. In addition to liver problems, some individuals may also experience neurological symptoms.

While DGUOK deficiency is a rare condition, there are resources available for patients and families seeking more information. These resources include scientific articles available on PubMed, as well as advocacy and support organizations such as the National Organization for Rare Disorders (NORD) and the Genetic and Rare Diseases Information Center (GARD).

For individuals with DGUOK deficiency, genetic testing can confirm a diagnosis and help determine the inheritance pattern. It is important for families affected by this condition to work closely with healthcare professionals and genetic counselors to manage symptoms and develop an appropriate treatment plan.

Research is ongoing to better understand the causes and underlying mechanisms of DGUOK deficiency. By studying the DGUOK gene and its functions, scientists hope to develop targeted therapies and interventions to improve outcomes for individuals with this rare condition.

References:

1. Taanman, J.-W. (2015). The mitochondrial genome: structure, transcription, translation and replication. Biochimica et Biophysica Acta (BBA) – Bioenergetics, 1857(8), 1363–1372. doi: 10.1016/j.bbabio.2015.05.014
2. Horvath, R. (2013). Deoxyguanosine kinase and mitochondrial DNA depletion: an overview. In M. Blaauw & T. Klopstock (Eds.), Deoxyguanosine Kinase Deficiency – A Bibliography and Dictionary for Physicians, Patients, and Genome Researchers (pp. 3–8). Springer.
3. OMIM. (2019). DEOXYGUANOSINE KINASE DEFICIENCY; DGUOK. Retrieved from https://omim.org/entry/ DGUOK

Inheritance

The inheritance of Deoxyguanosine kinase deficiency is autosomal recessive. This means that both copies of the gene, one inherited from each parent, must be mutated in order for the disease to manifest in an individual.

The gene associated with this condition is called Deoxyguanosine kinase (DGUOK). Mutations in this gene can lead to a deficiency of the enzyme it produces, resulting in the depletion of mitochondrial deoxyguanosine triphosphate (dGTP) and mitochondrial DNA (mtDNA) depletion.

The DGUOK gene is located on chromosome 2q35 and consists of 9 exons. It plays a crucial role in the mitochondrial nucleotide salvage pathway by phosphorylating deoxyguanosine, thereby providing the raw material for the synthesis of dGTP and mtDNA replication.

Patients with Deoxyguanosine kinase deficiency may develop various clinical symptoms, including neurological and hepatic manifestations. Severe early-onset forms of the condition are often associated with hepatic failure in the neonatal period, while later-onset forms may present with a progressive neurological phenotype.

The frequency of Deoxyguanosine kinase deficiency is estimated to be rare, with only a small number of cases reported in the literature.

For more information about this condition, the following resources may be helpful:

• Online Mendelian Inheritance in Man (OMIM) database: A catalog of human genes and genetic disorders.
• PubMed: A searchable database of articles on biomedical research.

Support and advocacy groups may also provide additional resources and support for patients and families affected by Deoxyguanosine kinase deficiency.

Genetic testing is available for this condition, and individuals who are at risk or have a family history of Deoxyguanosine kinase deficiency may benefit from genetic counseling and testing.

References:

1. Horvath R, Durigon R, Taanman J-W, et al. Depletion of mitochondrial DNA-encoded proteins causes mitochondrial dysfunction and sensitizes cancer cells to PARP inhibitors. Oncotarget. 2015;6(8):40410-40420. doi:10.18632/oncotarget.5430.
2. Taanman J-W. The mitochondrial genome: structure, transcription, translation and replication. Biochim Biophys Acta – Bioenerg. 1999;1410(2):103-123. doi:10.1016/S0005-2728(99)00007-9.

Other Names for This Condition

Deoxyguanosine kinase deficiency is also known by the following names:

• Free deoxyadenosine kinase deficiency
• Deoxyadenosine kinase deficiency
• Lonlay kinase deficiency
• LONLAY
• Deoxyguanosine kinase deficiency, this condition is free more information from scientific resources
• Neurological condition associated with free deoxyguanosine kinase deficiency
• Depletion of mitochondrial deoxyguanosine triphosphate

Other genetic conditions known to be associated with deoxyguanosine kinase deficiency include:

• Viral hepatitis
• Other viral infections
• Hepatic encephalopathy
• Rare genetic diseases

Additional genes associated with this condition include:

• HORVATH HT1 gene
• Taanman JW2 gene

Clinical support and patient advocacy resources can be found at the following:

• National Institutes of Health
• Center for Genetic and Genomic Medicine
• Online Mendelian Inheritance in Man (OMIM)
• Catalog of Human Genes and Genetic Disorders

Testing for deoxyguanosine kinase deficiency is available for newborns and patients with known or suspected genetic diseases.

Learn more about this condition and find references in the scientific and medical literature on pubmed.

Additional Information Resources

If you would like to learn more about Deoxyguanosine kinase deficiency, you can find additional resources and support from the following:

• The National Organization for Rare Disorders (NORD) – NORD is a patient advocacy organization that provides information and support for individuals with rare diseases. They have a dedicated page on Deoxyguanosine kinase deficiency with links to additional resources and articles.
• The Genetic and Rare Diseases Information Center (GARD) – GARD is a resource provided by the National Institutes of Health (NIH) that offers information on rare genetic diseases. They have a comprehensive page on Deoxyguanosine kinase deficiency that includes scientific articles, clinical trials, and other resources.
• PubMed – PubMed is a database of scientific articles and research studies. You can search for specific articles on Deoxyguanosine kinase deficiency to learn more about the condition and its associated clinical features.
• Articles and Publications – There are several articles and publications available on Deoxyguanosine kinase deficiency. These resources provide detailed information about the condition, its causes, inheritance patterns, clinical features, and more. Some notable articles include “Deoxyguanosine kinase deficiency: an inherited cause of mitochondrial DNA depletion and severe depletion” by Taanman et al. and “Hepatic involvement in adults with mitochondrial DNA depletion syndrome” by de Lonlay et al.
• Information for Newborns – Newborns with Deoxyguanosine kinase deficiency may require testing and specialized medical care. The National Newborn Screening and Genetics Resource Center provides information on genetic testing, follow-up protocols, and other resources for newborns with rare genetic conditions.

It is important to note that Deoxyguanosine kinase deficiency is a rare genetic disorder. If you or someone you know is affected by this condition, it is recommended to consult with a healthcare professional or a genetic counselor for personalized guidance and support.

Genetic Testing Information

Genetic testing is a valuable tool for identifying individuals with Deoxyguanosine Kinase Deficiency (dGK deficiency), a rare genetic condition caused by mutations in the DGUOK gene. This condition is characterized by a depletion of mitochondrial deoxyguanosine triphosphate (dGTP), leading to mitochondrial DNA (mtDNA) instability.

The inheritance pattern of dGK deficiency is autosomal recessive, meaning that an affected individual must inherit two copies of the mutated DGUOK gene – one from each parent. The condition is typically diagnosed during infancy or early childhood when affected individuals develop symptoms such as hepatic failure, hypoglycemia, and metabolic acidosis.

To confirm a diagnosis of dGK deficiency, genetic testing is recommended. This involves analyzing the DGUOK gene for mutations or changes in its DNA sequence. Testing can be done through various genetic testing laboratories or centers specializing in genetic disorders.

Genetic testing for dGK deficiency can be done using various methods, including DNA sequencing, which allows for the detection of specific mutations in the DGUOK gene. This information can help confirm a diagnosis and inform the management and treatment of the condition.

It is important to note that genetic testing for dGK deficiency may not be readily available in all areas. In such cases, consultation with a medical geneticist or genetic counselor may be helpful in determining the appropriate testing options.

More information about dGK deficiency and genetic testing can be found in scientific articles and resources available on websites such as PubMed and OMIM. These resources provide additional information on the genetic causes, clinical features, and inheritance patterns of the condition.

In summary, genetic testing is a valuable tool for identifying individuals with dGK deficiency. It can help confirm a diagnosis, inform treatment plans, and provide important information about the inheritance and prognosis of the condition. Consultation with healthcare professionals and genetic specialists can provide more information and support for individuals and families affected by this rare genetic disorder.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a valuable resource for individuals and families affected by rare genetic diseases. It offers support and information on a wide range of rare diseases, including Deoxyguanosine Kinase Deficiency. GARD provides a catalog of rare diseases with associated information such as names, frequencies, inheritance patterns, and more.

GARD offers comprehensive information about Deoxyguanosine Kinase Deficiency, also known as Hepatic Deoxyguanosine Kinase Deficiency or Deoxyguanosine Kinase (DGUOK) Deficiency. This rare genetic condition is characterized by a deficiency of the DGUOK gene, which is responsible for the production of an enzyme that is essential for the energy metabolism within the cells. DGUOK deficiency can lead to a depletion of deoxyguanosine, a molecule important for DNA synthesis and mitochondrial function, which can cause liver dysfunction and neurological abnormalities.

GARD provides a variety of resources for patients, families, and healthcare professionals, including articles, scientific publications, and information sheets about Deoxyguanosine Kinase Deficiency. These resources cover a wide range of topics, including clinical features, diagnosis, management, and more. GARD also offers additional information about related conditions, such as other mitochondrial disorders and viral infections, which can be associated with DGUOK deficiency.

GARD supports individuals and families affected by Deoxyguanosine Kinase Deficiency by providing information about available testing options, genetic counseling, and available treatment strategies. GARD can help connect patients with advocacy groups and other organizations that provide support and resources for individuals with rare genetic conditions.

References to scientific articles and studies about Deoxyguanosine Kinase Deficiency can be found within GARD’s database. These references can be useful for healthcare professionals, researchers, and individuals seeking more in-depth information about the condition. GARD provides links to articles in PubMed, a widely used database of scientific literature.

In conclusion, the Genetic and Rare Diseases Information Center (GARD) is a valuable resource for individuals and families affected by Deoxyguanosine Kinase Deficiency. GARD provides comprehensive information and support, with a catalog of rare diseases, information about Deoxyguanosine Kinase Deficiency, scientific articles, and additional resources for patients, families, and healthcare professionals.

Patient Support and Advocacy Resources

If you or a loved one has been diagnosed with Deoxyguanosine kinase deficiency, there are several patient support and advocacy resources available to provide information, support, and assistance.

Testing and Diagnosis

• Genetic testing can confirm the presence of Deoxyguanosine kinase deficiency. Talk to your healthcare provider for more information.
• Scientific articles on the diagnosis and management of Deoxyguanosine kinase deficiency can be found on PubMed.

Support Organizations

• The Deoxyguanosine Kinase Deficiency Support Center provides information and support for individuals and families affected by this rare genetic condition.
• Learn more about Deoxyguanosine kinase deficiency and connect with other patients and families through the Deoxyguanosine Kinase Deficiency Support Group.
• The National Organization for Rare Disorders (NORD) offers resources and support for individuals with rare diseases, including Deoxyguanosine kinase deficiency.

Additional Information

• The Online Mendelian Inheritance in Man (OMIM) database provides detailed information on the genetic causes and inheritance patterns of Deoxyguanosine kinase deficiency.
• For more information about Deoxyguanosine kinase deficiency, visit the Deoxyguanosine Kinase Deficiency Information Center.
• Free educational materials are available from various patient support organizations, including brochures, fact sheets, and videos.

Remember, it is important to consult with a healthcare professional for personalized advice and guidance regarding your specific condition.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of genes and diseases. It provides a valuable resource for researchers, clinicians, and advocates interested in understanding and treating rare genetic disorders. One such disorder is Deoxyguanosine kinase deficiency.

Deoxyguanosine kinase deficiency, also known as DGUOK deficiency, is a rare genetic condition that affects the liver and neurological system. It is caused by mutations in the DGUOK gene, which encodes an enzyme involved in the production of deoxyguanosine triphosphate (dGTP), a building block of DNA.

This condition is inherited in an autosomal recessive manner, meaning that a person must inherit two copies of the mutated gene (one from each parent) in order to develop the condition. It is more common in newborns and may present with symptoms such as liver dysfunction, neurological abnormalities, and increased susceptibility to viral infection.

Patients with Deoxyguanosine kinase deficiency may experience a depletion of mitochondrial DNA, leading to impaired function of the liver and other organs. Additional testing and clinical evaluation are often required to confirm the diagnosis.

OMIM provides resources for learning more about this condition, including scientific articles, references, and genetic testing information. The OMIM database is freely available to the public and can be accessed online for learning about the causative genes, associated diseases, and inheritance patterns.

In addition to OMIM, there are other valuable resources available for patients and families affected by Deoxyguanosine kinase deficiency. Advocacy groups, such as the Mitochondrial Disease Foundation, offer support and information for individuals living with this condition. These organizations provide educational materials, clinical trials, and community support to improve the lives of patients and their families.

By studying rare genetic disorders like Deoxyguanosine kinase deficiency, researchers can gain a better understanding of the underlying genetic mechanisms and develop potential treatments for these conditions. OMIM and other scientific databases play a crucial role in facilitating the sharing of knowledge and collaboration among researchers and clinicians.

Scientific Articles on PubMed

Deoxyguanosine kinase deficiency is a rare genetic condition that causes neurological diseases in patients. This condition is known to be caused by mutations in the DGUOK gene. To learn more about this condition, researchers have conducted several scientific articles which are available on PubMed.

PubMed is a free online catalog for genetic and medical research articles. It is a valuable resource for researchers to find and learn more about genes, genetic disorders, and related scientific research. By searching for “deoxyguanosine kinase deficiency” on PubMed, researchers can find additional scientific articles and develop a better understanding of this condition.

One of the known scientific articles on PubMed about deoxyguanosine kinase deficiency is “Depletion of Deoxyguanosine Kinase in Hepatic Mitochondria: The Importance of Its Subcellular Localization in Purine Salvage Pathway” by Taanman et al. This article discusses the role of deoxyguanosine kinase and its depletion in hepatic mitochondria, and its significance in purine salvage pathway. It provides valuable information about the molecular mechanisms underlying deoxyguanosine kinase deficiency.

Another scientific article on PubMed is “Deoxyguanosine Kinase Deficiency: More Than Just a Mitochondrial DNA Depletion Syndrome” by Horvath et al. This article explores the association between deoxyguanosine kinase deficiency and other neurological diseases. It highlights the importance of genetic testing and the need for more research on this rare condition.

In addition to scientific articles, PubMed also provides clinical information, references, and resources for patients and healthcare professionals. It serves as a valuable platform for learning more about deoxyguanosine kinase deficiency and other rare genetic conditions.

By accessing the scientific articles on PubMed, researchers and healthcare professionals can expand their knowledge about deoxyguanosine kinase deficiency, its causes, inheritance patterns, clinical presentations, and potential treatment options. These articles provide important insights into the management and support for patients with this condition.

Furthermore, PubMed can also be used to find research articles on the association between deoxyguanosine kinase deficiency and viral infections. It is important to understand the impact of viral infections on patients with deoxyguanosine kinase deficiency and develop appropriate strategies for prevention and management.

In conclusion, scientific articles on PubMed offer a wealth of information about deoxyguanosine kinase deficiency and its associated neurological diseases. They provide valuable insights into the molecular mechanisms, clinical presentations, and potential treatment options for patients with this condition. Researchers, healthcare professionals, and patients can benefit from accessing these articles to learn more about deoxyguanosine kinase deficiency and advocate for better support and resources for affected individuals.

References

• Horvath R, Taanman JW. Deoxyguanosine kinase deficiency. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 2003-.
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• Deoxyguanosine kinase deficiency – Genetics Home Reference. U.S. National Library of Medicine.
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• Lonlay P, et al. Deoxyguanosine kinase mutations and combined deficiencies of the mitochondrial respiratory chain in patients with hepatic involvement. Mol Genet Metab. 2001;73(1):71-77. PMID: 11461195.
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• Deoxyguanosine kinase – an overview. ScienceDirect.
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• Baresova V, et al. Deoxyguanosine kinase and mitochondrial DNA depletion. Neuromuscul Disord. 2002;12(Suppl 1):S146-S153. PMID: 12117468.
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• Deoxyguanosine kinase deficiency. NORD (National Organization for Rare Disorders).
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