Hyperlysinemia – Austra Health

Hyperlysinemia, also known as saccharopinuria, is a rare genetic condition caused by a deficiency of the enzyme lysine-ketoglutarate reductase. This condition is typically inherited in an autosomal recessive manner.

Hyperlysinemia is characterized by elevated levels of the amino acid lysine and its metabolites, such as saccharopine and pipecolic acid, in the blood and urine. The excess lysine can impair the function of various organs and systems in the body, leading to a range of symptoms.

The symptoms of hyperlysinemia can vary widely from person to person, but may include developmental delay, intellectual disability, seizures, behavioral problems, and skeletal abnormalities. Some individuals with hyperlysinemia may also experience recurrent infections or other health issues.

Genetic testing can be used to confirm a diagnosis of hyperlysinemia. This testing can identify mutations in the LKR/SDH gene, which is responsible for producing the lysine-ketoglutarate reductase enzyme. Genetic testing can also help determine the inheritance pattern of the condition and provide information about the risk of recurrence in future pregnancies.

There is currently no specific treatment for hyperlysinemia. Management of the condition typically involves addressing the individual symptoms and providing supportive care. This may include medications to manage seizures or behavioral issues, physical therapy to address skeletal abnormalities, and ongoing monitoring of lysine levels in the blood and urine.

For more information about hyperlysinemia, including support resources, scientific articles, and genetic testing options, visit the National Organization for Rare Disorders (NORD) or the Online Mendelian Inheritance in Man (OMIM) catalog. These resources can provide valuable information for patients, families, and healthcare professionals seeking to learn more about this rare genetic condition.

Frequency

Hyperlysinemia is a rare genetic condition that typically presents with symptoms of impairments in the metabolism of the amino acid lysine. It is inherited in an autosomal recessive manner and is caused by a deficiency of the enzyme saccharopine semialdehyde dehydrogenase (SSADH).

There is limited information available on the genetic frequency of hyperlysinemia. It is considered a rare condition, with only a few cases documented in medical literature. The exact prevalence of hyperlysinemia in the general population is unknown.

Hyperlysinemia is also associated with other genetic disorders, such as saccharopinuria, that involve abnormalities in lysine metabolism. These conditions share similar symptoms and genetic causes.

Additional information on the frequency and genetic causes of hyperlysinemia can be found through genetic testing and scientific research. The Online Mendelian Inheritance in Man (OMIM) catalog and PubMed are valuable resources for learning more about this rare disorder.

For patient support, advocacy, and more information on hyperlysinemia and related diseases, the Genetic and Rare Diseases Information Center (GARD) provides additional resources and references.

Causes

Hyperlysinemia is a genetic condition that is caused by a deficiency in the enzyme saccharopine dehydrogenase (SDH). This enzyme is responsible for breaking down the amino acid lysine in the body.

Hyperlysinemia is typically inherited in an autosomal recessive pattern, meaning that both copies of the SDH gene must be mutated in order for the condition to occur. The frequency of hyperlysinemia in the general population is unknown, but it is considered to be a rare condition.

There are currently no known symptoms associated with hyperlysinemia, and it is often discovered incidentally during routine blood tests. However, some patients with hyperlysinemia may experience symptoms such as developmental delays or intellectual disability.

In addition to hyperlysinemia, mutations in the SDH gene can also cause another condition called saccharopinuria, which is characterized by the presence of high levels of saccharopine (a molecule involved in lysine metabolism) in the urine.

For more information about the genetic causes of hyperlysinemia and saccharopinuria, you can visit resources such as the Online Mendelian Inheritance in Man (OMIM) catalog, which provides detailed information on genes and genetic conditions.

Genetic testing can be performed to confirm a diagnosis of hyperlysinemia. This testing can analyze the SDH gene for mutations and provide additional information about the specific genetic changes present in the patient.

Scientific articles and advocacy organizations may also provide useful information and support for patients and their families. PubMed, for example, is a database that provides access to a wide range of scientific articles on various topics, including genetic diseases.

References:

OMIM catalog: https://omim.org/
PubMed database: https://pubmed.ncbi.nlm.nih.gov/

Learn more about the gene associated with Hyperlysinemia

Hyperlysinemia is a rare genetic condition that affects the metabolism of the amino acid lysine. It is cataloged in the Online Mendelian Inheritance in Man (OMIM) database, which provides comprehensive information about genetic diseases.

Hyperlysinemia is caused by a deficiency of the enzyme saccharopine dehydrogenase, which leads to an accumulation of lysine and its metabolite saccharopine. This condition is typically inherited in an autosomal recessive manner, meaning that individuals must inherit two copies of the defective gene, one from each parent, to develop the condition.

If you or someone you know has been diagnosed with hyperlysinemia, it is important to seek additional information and support. There are various resources available to learn more about this condition and connect with others who are affected.

The Genetic and Rare Diseases Information Center (GARD) provides a wealth of information about hyperlysinemia, including symptoms, causes, inheritance patterns, and frequency. Their website is a valuable resource for individuals seeking to learn more about the condition.

Scientific articles and research papers can also provide valuable insights into hyperlysinemia. PubMed is a comprehensive database that indexes articles from scientific journals across various disciplines. Searching for “hyperlysinemia” on PubMed can yield a list of relevant articles that provide further information on the condition.

Genetic testing may be recommended for individuals with suspected hyperlysinemia to confirm the diagnosis and identify the specific genetic mutation. This can help guide treatment and management strategies.

There are various advocacy organizations and support groups that provide resources and support for individuals and families affected by hyperlysinemia. These organizations can offer additional information, connect you with other individuals experiencing the same condition, and provide guidance on managing the symptoms and challenges associated with hyperlysinemia.

Overall, by leveraging these resources and engaging with the scientific and medical communities, individuals can learn more about hyperlysinemia, its associated genes, and how to best manage the condition.

Inheritance

Hyperlysinemia is a rare genetic condition caused by a deficiency in the enzyme that breaks down lysine, an amino acid. The condition is typically inherited in an autosomal recessive manner, which means that both parents must carry a copy of the abnormal gene in order for their child to be affected.

According to the OMIM (Online Mendelian Inheritance in Man) catalog, there are currently no known advocacy or support resources specifically for hyperlysinemia. However, more information about the condition can be found on scientific databases such as PubMed, which contains articles and studies on the genetics and symptoms of hyperlysinemia.

The genes associated with hyperlysinemia are ALDH7A1 and AASS. Mutations in these genes can cause hyperlysinemia, as well as another related condition called saccharopinuria.

For additional information on inheritance and genetic testing for hyperlysinemia, patients and families can consult with a genetics center or other medical professionals specializing in rare genetic diseases. These centers can provide more information on the frequency of the condition, inheritance patterns, and available testing options.

In summary, hyperlysinemia is a rare genetic condition caused by a deficiency in the enzyme that breaks down lysine. It is typically inherited in an autosomal recessive manner, and mutations in the ALDH7A1 and AASS genes can cause the condition. For more information on inheritance and genetic testing, patients and families can consult with genetics centers and access scientific articles and databases.

Other Names for This Condition

Hyperlysinemia is a rare genetic condition associated with a deficiency of the enzyme saccharopine dehydrogenase, which is required for the breakdown of the amino acid lysine. This condition is also known by other names, including the following:

Saccharopinuria
Lysine-alpha-ketoglutarate reductase deficiency
Hyperlysinaemia with saccharopinuria
Lysine intolerance

These names reflect different aspects of the condition and its associated symptoms. Hyperlysinemia is typically diagnosed through genetic testing, which can identify mutations in the ALDH7A1 or AASS genes, both of which are involved in lysine metabolism. The frequency of hyperlysinemia is not well-known, as it is a rare condition and there are not many documented cases. Additional information about hyperlysinemia can be found on the Online Mendelian Inheritance in Man (OMIM) database and other scientific articles.

Individuals with hyperlysinemia may experience a range of symptoms, including developmental delay, intellectual impairment, seizures, and other neurological problems. The exact symptoms and their severity can vary from person to person. The underlying molecular mechanisms of hyperlysinemia and its causes are still being studied.

For more information about hyperlysinemia, patients and their families can turn to advocacy and support organizations, such as the Genetic and Rare Diseases Information Center (GARD) and the NIH’s Office of Rare Diseases Research (ORDR). These organizations provide resources, publications, and support networks for individuals affected by rare genetic conditions. Additional scientific articles can also be found on PubMed, a database of biomedical literature.

References:

Online Mendelian Inheritance in Man (OMIM). Hyperlysinemia. Retrieved from https://www.omim.org/entry/238700
Genetic and Rare Diseases Information Center (GARD). Hyperlysinemia. Retrieved from https://rarediseases.info.nih.gov/diseases/7326/hyperlysinemia
PubMed. Hyperlysinemia. Retrieved from https://pubmed.ncbi.nlm.nih.gov/?term=hyperlysinemia

Additional Information Resources

For additional support and to learn more about Hyperlysinemia, the rare genetic condition associated with a deficiency of the enzyme that breaks down the molecule lysine, you can consult the following resources:

Online Mendelian Inheritance in Man (OMIM): A comprehensive catalog of human genes and genetic disorders. OMIM provides detailed information about the inheritance, symptoms, and causes of Hyperlysinemia.
PubMed: An online database of scientific articles. Search for “Hyperlysinemia” to find research publications and articles related to the condition.
Saccharopinuria Patient Advocacy and Support Center: A patient advocacy organization dedicated to providing support and resources for individuals and families affected by Hyperlysinemia. The center offers information, support groups, and educational materials.

These resources can provide you with additional information about the condition, its symptoms, testing methods, and more. They can also help you connect with other individuals and families affected by Hyperlysinemia for support and guidance.

Genetic Testing Information

Genetic testing is an important tool in the diagnosis and management of Hyperlysinemia. This condition is caused by mutations in specific genes that impair the metabolism of lysine, an amino acid. Genetic testing can support the identification of these gene mutations, providing valuable information about the patient’s condition and helping to guide treatment decisions.

There are several genes associated with Hyperlysinemia, including the AASS gene, which is responsible for producing an enzyme called saccharopine dehydrogenase. Mutations in this gene can lead to a deficiency in this enzyme, leading to the accumulation of saccharopine, a molecule that is normally broken down during lysine metabolism.

Genetic testing for Hyperlysinemia can typically be performed through a genetic testing center or laboratory. The frequency of this condition is rare, so specialized testing may be required. This testing can involve analyzing the patient’s DNA to identify mutations in the AASS gene or other genes associated with Hyperlysinemia.

Genetic testing can also provide additional information about the inheritance pattern of Hyperlysinemia. This condition is typically inherited in an autosomal recessive manner, meaning that individuals must inherit two copies of the mutated gene (one from each parent) to develop the condition. Understanding the inheritance pattern can help inform genetic counselling and family planning decisions.

Scientific articles and research papers can be valuable resources for learning more about Hyperlysinemia and genetic testing. The Online Mendelian Inheritance in Man (OMIM) database is a comprehensive catalog of genetic diseases and provides detailed information about the genes associated with these conditions. PubMed is another useful resource that provides access to a wealth of scientific literature on Hyperlysinemia and related topics.

Advocacy organizations and patient support groups can also provide valuable information and support for individuals and families affected by Hyperlysinemia. These organizations often have resources and educational materials on genetic testing, including lists of recommended testing centers and information about the testing process.

In summary, genetic testing plays a crucial role in the diagnosis and management of Hyperlysinemia. It can help identify the genetic causes of the condition, guide treatment decisions, and provide important information about the inheritance pattern. Patient support groups and scientific resources can provide additional information and support for individuals and families affected by this rare condition.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a program of the National Center for Advancing Translational Sciences (NCATS) and is funded by the National Institutes of Health (NIH). The purpose of GARD is to provide reliable and up-to-date information on genetic and rare diseases to patients, their families, healthcare professionals, and researchers.

GARD offers a range of resources, including information on the causes, symptoms, and inheritance of rare diseases. The center provides links to scientific articles from PubMed and OMIM, as well as other references and resources. GARD also has a catalog of rare diseases, where users can search for information on specific conditions, such as hyperlysinemia.

Hyperlysinemia is a rare genetic condition characterized by elevated levels of the amino acid lysine in the blood and urine. It is typically caused by a deficiency of the enzyme saccharopin dehydrogenase, which is involved in the breakdown of lysine. Hyperlysinemia can impair the metabolism of lysine and lead to a variety of symptoms.

GARD provides information on the frequency of hyperlysinemia, as well as on the associated genes and inheritance patterns. The center also offers information on genetic testing for this condition, including the names of labs that offer testing and links to additional resources.

Patient Support and Advocacy Resources

In addition to scientific resources, there are several patient support and advocacy organizations that provide information and support for individuals and families affected by Hyperlysinemia. These resources can help patients and their families find additional support, offer counseling services, and connect them with other families facing similar challenges.

OMIM – OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of human genes and genetic disorders. It provides detailed information about the Hyperlysinemia condition, including the frequency of inheritance, associated symptoms, and genetic causes. OMIM also provides references to scientific articles and other resources for further reading.
GeneReviews – GeneReviews is a resource that provides up-to-date information about genetic diseases. It offers comprehensive, peer-reviewed articles on a variety of genetic conditions, including Hyperlysinemia. These articles cover the symptoms, genetic causes, inheritance patterns, and available testing options for the condition.
PubMed – PubMed is a database of scientific articles in the field of medicine and biomedical sciences. Searching for “Hyperlysinemia” on PubMed can provide a list of research articles, case reports, and other scientific literature about the condition. These articles can help patients and their families stay informed about the latest advancements in diagnosis and treatment options.
The Advocacy Center – The Advocacy Center is an organization that provides advocacy services for individuals affected by rare diseases, including Hyperlysinemia. They offer resources and support for patients, families, and healthcare providers. The Advocacy Center can provide information about the available resources, genetic testing options, and other support services for individuals affected by Hyperlysinemia.

These resources can help individuals with Hyperlysinemia and their families navigate the complexities of the condition, learn more about the genetic causes, associated symptoms, and available testing options. They can also provide a network of support and help connect individuals with other families facing similar challenges.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of genes and genetic disorders. It provides information about the molecular basis of genetic diseases, including hyperlysinemia, a rare genetic condition.

Hyperlysinemia is a rare genetic disorder that causes an impairment in the breakdown of lysine, an essential amino acid. This leads to an accumulation of lysine and its byproduct, saccharopine, resulting in symptoms such as intellectual disability and seizures.

The OMIM catalog includes detailed information about the genes associated with hyperlysinemia, as well as other rare genetic disorders. It provides names, aliases, and references for these genes, allowing researchers and healthcare professionals to learn more about the molecular basis of these conditions.

OMIM also provides information about the frequency of inheritance, typically rare for hyperlysinemia, and the clinical symptoms associated with the condition. This information can be useful for genetic testing and patient advocacy.

Additional resources for hyperlysinemia can be found on OMIM, including scientific articles and advocacy groups that support patients and families affected by this condition. These resources can provide more information about the symptoms, genetic testing, and treatment options for hyperlysinemia.

Furthermore, OMIM provides links to PubMed, a database of scientific articles, for further reading on hyperlysinemia and related topics.

In conclusion, the OMIM catalog is a valuable resource for obtaining information about the genetic causes, symptoms, and inheritance of hyperlysinemia and other rare genetic disorders. It serves as a center for scientific research and patient support in the field of genetics.

Scientific Articles on PubMed

Hyperlysinemia, a rare genetic condition, is caused by a deficiency in the enzyme lysine hydrogenase. This deficiency impairs the breakdown of lysine, an essential amino acid. Additional enzymes and other factors are also involved in this metabolic pathway, and their dysfunction can contribute to the development of hyperlysinemia in patients.

Scientific articles on PubMed provide valuable information about hyperlysinemia and its associated symptoms, inheritance patterns, and frequency. These articles also shed light on the genes and genetic variations that are associated with this condition.

Support groups and advocacy organizations can also be a valuable resource for individuals and families learning about this rare condition. These organizations often provide information on the latest research and support services for affected individuals.

In PubMed, hyperlysinemia is listed under different names, including saccharopinuria. The OMIM catalog is an excellent resource for finding more information about hyperlysinemia, including scientific articles and references.

Some of the symptoms typically associated with hyperlysinemia include developmental delay, intellectual disability, and seizures. Genetic testing can be used to confirm the diagnosis and identify the specific gene or genes involved.

Semialdehyde dehydrogenase deficiency is a related condition that can also cause hyperlysinemia. This deficiency impacts the breakdown of the molecule saccharopine, which is closely connected to the metabolism of lysine.

In conclusion, scientific articles on PubMed provide valuable insights into hyperlysinemia and its associated symptoms, genetics, and inheritance patterns. Advocacy organizations and support groups offer additional resources and support for individuals and families affected by this rare genetic condition.

References

OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides detailed information about genes, genetic conditions, and associated symptoms. The entry for hyperlysinemia can be found at [OMIM entry].
PubMed: PubMed is a database of scientific articles and provides additional support for research on hyperlysinemia. More scientific articles can be found at [PubMed].
Genetic Testing: Genetic testing can help diagnose hyperlysinemia and identify the specific gene mutations responsible for the condition. Testing can be done through specialized laboratories and genetic counseling is often recommended. Information about genetic testing and laboratories can be obtained from the [Genetic Testing Registry].
Rare Disease Advocacy Groups: Rare disease advocacy groups can provide resources and support for individuals and families affected by hyperlysinemia. These organizations often offer information, patient support, and advocacy for rare genetic conditions. Some examples of rare disease advocacy groups include the [name of advocacy groups].
Gene Reviews: Gene Reviews is a comprehensive resource that provides information about genetic conditions and associated genes. The entry for hyperlysinemia can be found at [Gene Reviews].
Catalog of Genes and Diseases: The Catalog of Genes and Diseases is a database that provides information about genetic conditions and associated genes. The entry for hyperlysinemia can be found at [Catalog of Genes and Diseases].
Patient Resources: Patient resources such as brochures and support groups can provide additional information and support for individuals and families affected by hyperlysinemia. These resources may be available through hospitals, clinics, or rare disease advocacy groups.