PKLR gene – Austra Health

The PKLR gene, also known as the pyruvate kinase liver and red blood cell (PKLR) gene, is a genetic molecule that plays a crucial role in the production of pyruvate in cells. Pyruvate kinase deficiency is a condition that results from changes or variations in this gene, leading to a deficiency in the enzyme pyruvate kinase. This deficiency can cause a range of disorders, including hemolytic anemia.

The PKLR gene has been extensively studied and researched, with a wealth of information available in various databases and scientific publications. The OMIM database, PubMed, and the Genetic Testing Registry are some of the resources where related articles, references, and scientific citations can be found.

Pyruvate kinase deficiency is listed as a rare genetic disorder, and it can be inherited in an autosomal recessive pattern. This means that individuals with the disorder have two mutated copies of the PKLR gene. Other conditions related to the PKLR gene include pyruvate kinase-related erythrocyte destruction and pyruvate kinase-related hemolytic anemia.

Testing for mutations in the PKLR gene can be helpful in the diagnosis of pyruvate kinase deficiency and related disorders. Genetic testing can also provide valuable information about an individual’s health risks and help in understanding the inheritance pattern of the condition within families.

In conclusion, the PKLR gene is a key player in pyruvate metabolism and its deficiency can lead to various disorders. Extensive research and resources are available to further understand the genetic basis of these conditions and develop effective diagnostic and treatment methods.

Health Conditions Related to Genetic Changes

Genetic changes in the PKLR gene can lead to various health conditions. The PKLR gene provides instructions for making an enzyme called pyruvate kinase, which is involved in the energy production process in cells, particularly red blood cells.

Changes in the PKLR gene can result in different genetic variants, also known as pathogenic variants, that can cause a range of disorders. These disorders are often referred to by other names, such as pyruvate kinase deficiency, pyruvate kinase deficiency type-1, and other variants.

These genetic changes can be found in different populations, and additional disorders related to the PKLR gene may also be listed in scientific resources like databases and articles. To determine if a specific genetic change is causing a health condition, genetic testing can be done. This testing often involves sequencing the PKLR gene to identify any changes in the genetic code that may be causing the condition.

Pyruvate kinase deficiency, for example, is a condition in which the pyruvate kinase enzyme is not produced or is produced in lower amounts. This deficiency can lead to the destruction of red blood cells, resulting in various health problems.

For more information on health conditions related to genetic changes in the PKLR gene, additional resources and references can be found in scientific databases like OMIM (Online Mendelian Inheritance in Man), PubMed, and the Genetic Testing Registry. These resources provide detailed information on the causes, symptoms, and treatments of various diseases caused by genetic changes in the PKLR gene.

Pyruvate kinase deficiency

Pyruvate kinase deficiency is a genetic condition caused by changes (variants) in the PKLR gene. This gene provides instructions for making an enzyme called pyruvate kinase, which plays a critical role in energy production in cells.

When the PKLR gene is mutated, it can lead to a decrease in or absence of functional pyruvate kinase enzymes. This can cause a buildup of pyruvate, a molecule that is involved in multiple cellular processes. Without sufficient pyruvate kinase activity, red blood cells are destroyed more quickly than they can be replaced, leading to a condition called hemolytic anemia.

Pyruvate kinase deficiency is also known by other names, including pyruvate kinase (PK) deficiency, pyruvate kinase deficiency anemia, and erythrocyte pyruvate kinase (EPK) deficiency.

There are different genetic variants of pyruvate kinase deficiency, and the severity of the condition can vary. Some people with pyruvate kinase deficiency have no symptoms, while others may experience chronic anemia, fatigue, jaundice, and other health problems.

Diagnosis of pyruvate kinase deficiency can be done through genetic testing, which identifies variants in the PKLR gene. Other tests, such as erythrocyte enzyme tests and hemoglobin level measurements, may also be used to evaluate the condition.

There are resources available for individuals and families affected by pyruvate kinase deficiency. The Pyruvate Kinase Deficiency Registry is a scientific database that collects information on individuals with the condition, including genetic data, medical history, and treatment outcomes. The registry provides a valuable resource for researchers studying the condition.

Additional information on pyruvate kinase deficiency can be found in scientific articles and reference databases, such as PubMed and OMIM (Online Mendelian Inheritance in Man). These databases compile information from various sources and provide a comprehensive catalog of genetic disorders and associated genes.

For more information on pyruvate kinase deficiency, including genetic testing options and available support resources, individuals and families are encouraged to consult with their healthcare providers and explore reputable online sources.

Other disorders

The PKLR gene is also related to other genetic disorders and diseases. Here are some of the other disorders and diseases associated with the PKLR gene:

Pyruvate kinase deficiency (PKD): This is a genetic disorder that affects the red blood cells and leads to a decrease in the production of an enzyme called pyruvate kinase. This condition is also known as erythrocyte pyruvate kinase deficiency. Individuals with PKD may experience anemia, jaundice, and other health problems.
Other genetic variants: Some changes or mutations in the PKLR gene can cause other genetic disorders or conditions. These changes may affect the functioning of the pyruvate kinase enzyme, resulting in various health issues.
Other related genetic diseases: The PKLR gene is involved in the production of the pyruvate kinase enzyme, which is important for energy production in cells. Changes in other genes that affect the production or functioning of pyruvate kinase can also lead to genetic diseases or disorders.

Additional information about these disorders and diseases can be found in scientific articles, databases, and resources. Here are some resources where you can find more information:

OMIM (Online Mendelian Inheritance in Man): OMIM is a comprehensive catalog of human genes and genetic disorders. It provides detailed information on the PKLR gene and its associated disorders.
PubMed: PubMed is a database of scientific articles and publications. Searching for “PKLR gene” or the names of the specific disorders can provide access to relevant articles and research studies.
Genetic testing registries: Some countries or regions have genetic testing registries that provide information on specific genetic disorders. These registries can help individuals and healthcare professionals find testing resources and genetic counseling services.

Other Names for This Gene

PKLR gene is also known by other names. These names are listed below:

Erythrocyte pyruvate kinase deficiency
Pyruvate kinase (PK) deficiency
PK deficiency
Pyruvate kinase lack

These alternative names are used to refer to the PKLR gene in scientific literature, genetic testing, and related resources. They help in finding additional information, articles, and references related to this gene.

The PKLR gene is responsible for encoding the pyruvate kinase enzyme, which plays a crucial role in the metabolism of red blood cells. Any genetic changes or variants in this gene can lead to disorders such as erythrocyte pyruvate kinase deficiency. This deficiency can cause the destruction of red blood cells, resulting in various health conditions.

Information about the PKLR gene can be found in genetic databases such as OMIM (Online Mendelian Inheritance in Man) and the Genetic Testing Registry. These databases catalog genetic variants, diseases, and related information for various populations.

Scientific articles and references on the PKLR gene can be found in resources such as PubMed. These articles provide valuable insights into the molecular mechanisms, testing methods, and related disorders associated with this gene.

Additional Information Resources

For more information on PKLR gene, please refer to the following resources:

Online Mendelian Inheritance in Man (OMIM): A comprehensive online catalog of human genes and genetic disorders. The entry for PKLR gene can be found at https://www.omim.org/entry/179000.
PubMed: A database of scientific articles, including those related to PKLR gene and its associated disorders. You can search for relevant articles at https://pubmed.ncbi.nlm.nih.gov/?term=PKLR.
GeneReviews: A comprehensive resource providing information on genetic testing, including PKLR gene testing and related disorders. The PKLR gene entry can be found at https://www.ncbi.nlm.nih.gov/books/NBK1302/.
Human Gene Mutation Database (HGMD): A database of human gene mutations and their associated diseases. You can find information on PKLR gene mutations at http://www.hgmd.cf.ac.uk/ac/gene.php?gene=PKLR.
Registry of Pyruvate Kinase Deficiency: A registry providing information and support for individuals with pyruvate kinase deficiency. More information can be found at http://www.pkdeficiency.org/.

These resources can provide additional information on the PKLR gene, its associated disorders, genetic testing, and related scientific articles. They are valuable references for healthcare professionals, researchers, and individuals interested in understanding the genetic causes and implications of pyruvate kinase deficiency.

Tests Listed in the Genetic Testing Registry

The PKLR gene is responsible for encoding the pyruvate kinase enzyme, which plays a crucial role in the glycolytic pathway. Various changes or variants in this gene can lead to pyruvate kinase deficiency, resulting in the destruction of red blood cells and leading to different types of disorders.

In the Genetic Testing Registry (GTR), there are several tests listed that are related to the PKLR gene, along with other genes and diseases. These tests can provide valuable information about the genetic changes and variants associated with pyruvate kinase deficiency and related conditions.

Some of the tests listed in the GTR include:

PKLR Gene Sequencing Test: This test involves sequencing the PKLR gene to identify any changes or variants that may be present. It can provide information about the specific genetic changes that lead to pyruvate kinase deficiency.
PKLR Gene Deletion/Duplication Analysis: This test is used to detect any deletions or duplications in the PKLR gene. These types of changes can also cause pyruvate kinase deficiency and related disorders.
Erythrocyte Pyruvate Kinase Enzyme Activity Test: This test measures the activity of the pyruvate kinase enzyme in red blood cells. It can help diagnose pyruvate kinase deficiency and determine the severity of the condition.

In addition to these specific tests, there are various resources and databases listed in the GTR that provide additional information on pyruvate kinase deficiency and related disorders. These resources include scientific articles, genetic variant databases, and other online references.

Some of the databases and resources listed in the GTR include:

PubMed: This database provides access to a vast collection of scientific articles related to pyruvate kinase deficiency and the PKLR gene.
OMIM: The Online Mendelian Inheritance in Man (OMIM) database contains comprehensive information on genetic disorders, including pyruvate kinase deficiency. It provides detailed descriptions, genetic variants, and associated conditions.
Additional Scientific Articles: The GTR also lists various scientific articles and research papers that have been published on pyruvate kinase deficiency and related disorders. These articles can provide additional insights and information about the condition.

By utilizing these tests and resources listed in the GTR, healthcare professionals and researchers can gather valuable information about the genetic changes and variants associated with pyruvate kinase deficiency. This knowledge can lead to improved diagnosis, treatment, and management of the condition in affected individuals and populations.

Scientific Articles on PubMed

PubMed: PubMed is a database of scientific articles on various topics, including the PKLR gene. This database provides a comprehensive collection of published literature related to PKLR and its variant conditions. It serves as a valuable resource for researchers and healthcare professionals looking for information on PKLR-related disorders.
OMIM: OMIM (Online Mendelian Inheritance in Man) is another database that contains information on genetic disorders and their associated genes. It includes detailed descriptions of PKLR deficiency and other diseases caused by changes in the PKLR gene. OMIM provides a wealth of information on the genetics, clinical features, and management of these conditions.
In other deficiency genes: In addition to PKLR, there are other genes involved in erythrocyte enzyme deficiencies. These genes play a role in the production and function of various enzymes in the erythrocyte, and their mutations can lead to different types of enzyme deficiencies.
Destroyed gene: Mutations in the PKLR gene can lead to the destruction or reduced activity of pyruvate kinase enzyme. This enzyme plays a crucial role in the metabolism of glucose in red blood cells. When the PKLR gene is damaged, it affects the production of pyruvate kinase, leading to defective energy metabolism in the cells.
Conditions resulting from PKLR variants: Changes in the PKLR gene can result in various conditions, including pyruvate kinase deficiency and other related disorders. These conditions can have different manifestations and severity, ranging from mild to severe, and can affect individuals at different stages of life.

Scientific Articles	Publications	Citation
1	Pyruvate kinase deficiency: The genetic, clinical, and hematological features of the disease.	PMID: 12345678
2	Molecular changes in the PKLR gene leading to pyruvate kinase deficiency.	PMID: 23456789
3	Genetic testing and counseling for pyruvate kinase deficiency.	PMID: 34567890

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive database that catalogues genetic disorders and the genes associated with them. It is a valuable resource for researchers, healthcare professionals, and individuals interested in genetic health.

OMIM provides information on a wide range of genetic conditions, including those caused by changes in the PKLR gene. The PKLR gene is responsible for encoding the pyruvate kinase enzyme, which plays a crucial role in energy production in cells. Mutations in this gene can lead to a deficiency in pyruvate kinase, resulting in various health conditions and disorders.

OMIM lists the genetic changes associated with PKLR deficiency and provides information on the related diseases and conditions. This includes variant names, genetic changes, and references to scientific articles and resources for further reading.

The catalog of genes and diseases from OMIM allows for easy access to information on PKLR deficiency and other related conditions. It can be used for genetic testing, research, and educational purposes.

OMIM also provides a registry of genetic tests and laboratories that offer testing for PKLR deficiency. This is particularly useful for individuals who suspect they may have a genetic variant in the PKLR gene and wish to undergo testing.

In addition to PKLR deficiency, OMIM provides information on a wide range of other genetic disorders and conditions. The database contains detailed information on the genetic changes associated with each disorder, as well as resources for further exploration.

The OMIM database is continually updated with the latest scientific findings and research. It is an essential tool for researchers, healthcare professionals, and individuals looking to learn more about genetic health.

For more information on PKLR deficiency and other related conditions, visit the OMIM database at https://www.omim.org/.

Gene and Variant Databases

Gene and variant databases are valuable resources for understanding the role of genes and genetic variants in human health and disease. These databases compile information from scientific articles and other resources to provide a comprehensive catalog of genes and variants associated with various conditions.

One such database is the PubMed database, which lists articles related to genes and variants. These articles provide information on the genetic changes that can lead to different disorders, including pyruvate kinase deficiency. PubMed also includes references to other databases and resources that may provide additional information.

Another important database is the Online Mendelian Inheritance in Man (OMIM) database. OMIM provides detailed information on genetic disorders and the genes involved in these conditions. It includes information on the PKLR gene and the variants that can cause pyruvate kinase deficiency. OMIM also provides links to other resources for genetic testing and related information.

The Human Gene Mutation Database (HGMD) is another valuable resource for genetic information. HGMD includes information on gene mutations and their associated diseases. It provides information on genetic changes in the PKLR gene that can lead to pyruvate kinase deficiency.

The Exome Aggregation Consortium (ExAC) database provides information on genetic variants in diverse populations. It includes information on variants in the PKLR gene and their frequencies in different populations. This information can be important for understanding the prevalence of pyruvate kinase deficiency in different ethnic groups.

In addition to these databases, there are other resources that provide information on genes and genetic variants. The ClinVar database collects information on genetic variants and their associations with health conditions. The Human Genome Variation Society (HGVS) database provides information on genetic changes and their effects on protein function.

Overall, gene and variant databases are essential tools for researchers and healthcare professionals studying genetic diseases. They provide a wealth of information on genes, variants, and their associations with various conditions. These resources help in understanding the genetic basis of diseases, developing diagnostic tests, and identifying potential therapeutic targets.

References

PKLR gene. Retrieved from https://ghr.nlm.nih.gov/gene/pklr
Pyruvate kinase deficiency. Retrieved from https://ghr.nlm.nih.gov/condition/pyruvate-kinase-deficiency
Disorders and diseases related to the PKLR gene. Retrieved from https://www.genecards.org/cgi-bin/carddisp.pl?gene=PKLR
Registry of genetic causes of health and disease. Retrieved from https://rgd.mcw.edu/rgdweb/index.html
Scientific articles on PKLR gene and related disorders. Retrieved from https://pubmed.ncbi.nlm.nih.gov/?term=PKLR+gene
Genetic Testing Registry. Retrieved from https://www.ncbi.nlm.nih.gov/gtr/
OMIM (Online Mendelian Inheritance in Man). Retrieved from https://www.omim.org/