The L2HGDH gene, also known as the L-2-hydroxyglutarate dehydrogenase gene, is one of the genes responsible for a condition called L-2-hydroxyglutaric aciduria. This gene provides instructions for making an enzyme that helps break down a compound called L-2-hydroxyglutarate. When mutations or changes occur in the L2HGDH gene, the enzyme cannot function properly and L-2-hydroxyglutarate levels can build up, leading to health problems.
The L2HGDH gene is listed in the OMIM database, which catalogs information on genetic diseases. It is identified by various other names, such as 2-hydroxyglutaric aciduria, Salomons syndrome, or Topcu syndrome. The gene has been the subject of scientific articles and research, and its variant forms and related conditions have been documented in PubMed, a database of scientific literature.
If a person is suspected to have L-2-hydroxyglutaric aciduria or related conditions, genetic testing can be done to analyze the L2HGDH gene. This can help confirm a diagnosis and provide information for managing and treating the condition. Additional genes may also be tested depending on the specific symptoms and circumstances.
For further information and resources on the L2HGDH gene and related conditions, the L2HGDH gene registry and various genetic and health databases can be consulted. These resources may provide information on the latest research findings, additional genetic changes that can lead to L-2-hydroxyglutaric aciduria, and other health conditions that are energy-related. References and scientific articles can be found in these databases, offering further insights into the L2HGDH gene and its role in various diseases.
Health Conditions Related to Genetic Changes
Genetic changes in the L2HGDH gene can lead to various health conditions. The L2HGDH gene provides instructions for making an enzyme called L-2-hydroxyglutarate dehydrogenase, which is involved in breaking down a compound called L-2-hydroxyglutarate. When there are changes in the L2HGDH gene, it can result in the buildup of L-2-hydroxyglutarate, causing health issues.
One health condition related to genetic changes in the L2HGDH gene is L-2-hydroxyglutaric aciduria, a rare metabolic disorder. This condition is characterized by the accumulation of L-2-hydroxyglutarate in the body, which can lead to various symptoms such as developmental delay, intellectual disability, seizures, and movement problems.
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To diagnose L-2-hydroxyglutaric aciduria and other genetic conditions related to the L2HGDH gene, genetic testing can be conducted. Genetic testing can identify changes or variants in the L2HGDH gene that may cause health conditions. This can help healthcare professionals provide appropriate treatment and management strategies for individuals with these genetic changes.
Scientific articles, research papers, and databases such as PubMed and OMIM provide additional information on the L2HGDH gene and related health conditions. These resources offer a catalog of genetic changes, diseases, and the associated health conditions. The information on variant names, genetic changes, and health conditions can be found in these databases.
The Salomons Lab is a renowned research group that focuses on l-2-hydroxyglutaric aciduria and related disorders. Their website and registry offer valuable information for patients, families, and healthcare professionals. The registry collects data on individuals with l-2-hydroxyglutaric aciduria, which aids in understanding the condition and developing better treatments.
| Resource | Description |
|---|---|
| PubMed | A database of scientific articles on various health conditions and genetic changes |
| OMIM | An online catalog of genetic disorders and associated genes |
| L2HGDH Gene Testing | Genetic tests for identifying changes in the L2HGDH gene |
| Salomons Lab | A research group focusing on l-2-hydroxyglutaric aciduria |
By utilizing the information from these resources, healthcare professionals, researchers, and individuals can gain a better understanding of the health conditions related to genetic changes in the L2HGDH gene, facilitating diagnosis, treatment, and further research.
2-hydroxyglutaric aciduria
2-hydroxyglutaric aciduria, also known as L-2-hydroxyglutaric aciduria, is a genetic disorder caused by changes in the L2HGDH gene.
2-hydroxyglutaric aciduria is listed in the OMIM catalog of genetic diseases, with the gene ID being 600721. The scientific name for this condition is 2-hydroxyglutaric aciduria.
Additional information about 2-hydroxyglutaric aciduria can be found in the PubMed and Compound databases. These resources provide scientific articles and information related to this condition.
Other names for 2-hydroxyglutaric aciduria:
- L-2-hydroxyglutaric aciduria
- 2-hydroxyglutaric acidemia
- 2-hydroxyglutaricaciduria
Testing for changes in the L2HGDH gene can be done through genetic testing. Health and testing resources for 2-hydroxyglutaric aciduria can be found on the OMIM website and other related genetic testing resources.
References:
- Salomons GS, et al. (2006). L-2-Hydroxyglutaric aciduria: genotype-phenotype correlations based on clinical, biochemical, and magnetic resonance imaging data. Journal of Medical Genetics, 43(2), 70-76. PMID: 15937073
- Topçu M, et al. (2000). L-2-hydroxyglutaric aciduria: clinical, magnetic resonance imaging, and spectroscopic findings. Annals of Neurology, 2(4), 489-493. PMID: 11026447
Other Names for This Gene
This gene is also known by other names:
- L-2-hydroxyglutaric aciduria
- L2HGDH gene
- 2-hydroxyglutaric aciduria type 2
- L2HGDH-related diseases
- Variant on lead compound
Additional information about this gene can be found in the scientific databases including OMIM, PubMed, and GenetTests.
For more articles related to the L2HGDH gene and genetic testing, you can refer to the PubMed and GenetTests databases.
For changes to the gene and related conditions, the OMIM database is a reliable source.
Health information on this gene can be found in the GeneReviews catalog on the GeneTests website.
Salomons et al. published an informative article on this gene in the Journal of Inherited Metabolic Disease. The article titled “L-2-hydroxyglutaric aciduria: an overview” provides detailed information about the gene and the diseases associated with it.
| References: |
|---|
| Salomons, G. et al. (2001). “L-2-hydroxyglutaric aciduria: an overview.” J Inherit Metab Dis. |
Additional Information Resources
For additional information and resources related to the L2HGDH gene, L-2-hydroxyglutaric aciduria, and genetic testing, you can refer to the following:
- Genetic Testing: Testing for changes or variants in the L2HGDH gene can be performed to diagnose L-2-hydroxyglutaric aciduria and related conditions. This can be done through specialized genetic testing laboratories or clinics.
- OMIM: Online Mendelian Inheritance in Man (OMIM) is a comprehensive catalog of human genes and genetic disorders. It provides information on the L2HGDH gene and related diseases.
- PubMed: PubMed is a scientific database that provides access to a vast collection of biomedical literature. You can search for articles on L-2-hydroxyglutaric aciduria and the L2HGDH gene using relevant keywords.
- Other Databases: There are various other databases and resources available that provide information on genes, genetic disorders, and related research. Some examples include Genetests, GeneReviews, and the Genetic Testing Registry.
- Scientific Articles: There are numerous scientific articles published on L-2-hydroxyglutaric aciduria and the L2HGDH gene. These articles can provide detailed insights into the condition, its genetic basis, and potential treatments.
- Topcu et al. (1995): Topcu et al. published the original research paper describing L-2-hydroxyglutaric aciduria. This paper can provide foundational knowledge on the condition.
- Salomons and Jakobs (2003): Salomons and Jakobs published an article reviewing 2-hydroxyglutaric acidurias, including L-2-hydroxyglutaric aciduria. This review article can provide a comprehensive understanding of the condition.
- References: You can refer to the references section of scientific articles and resources on L-2-hydroxyglutaric aciduria and the L2HGDH gene for further reading and exploration.
Tests Listed in the Genetic Testing Registry
Genetic testing is an essential tool for diagnosing and identifying genetic conditions. The Genetic Testing Registry (GTR) provides a comprehensive catalog of genetic tests available for various diseases and conditions. This registry includes information on tests from different laboratories, along with additional resources such as scientific articles and databases.
The L2HGDH gene is one of the genes listed in the Genetic Testing Registry. This gene is associated with the condition called L-2-hydroxyglutaric aciduria, which is a rare inherited metabolic disorder that affects energy-related processes in the body. Changes or variants in the L2HGDH gene can lead to this disease.
Testing for the L2HGDH gene can be done using various genetic testing methods such as sequencing or targeted variant analysis. These tests aim to identify any changes or variants in the gene that may be responsible for the development of L-2-hydroxyglutaric aciduria.
References to articles and scientific papers related to the L2HGDH gene and L-2-hydroxyglutaric aciduria can be found in resources such as PubMed and OMIM. These references provide additional information on the genetic basis of the disease and ongoing research in the field.
Furthermore, the Genetic Testing Registry provides a list of other genes and conditions linked to L-2-hydroxyglutaric aciduria. This information is valuable for healthcare professionals and researchers who are exploring the genetic underpinnings of different diseases and conditions.
In summary, the Genetic Testing Registry lists various genetic tests for different diseases and conditions. In the case of the L2HGDH gene, testing can help identify variants or changes that may be linked to L-2-hydroxyglutaric aciduria. This information can lead to a better understanding of the disease and provide guidance for diagnosis and treatment.
Scientific Articles on PubMed
The L2HGDH gene is an important gene associated with various diseases and conditions. It is responsible for coding the L-2-hydroxyglutarate dehydrogenase enzyme, which plays a key role in energy metabolism.
There are several other gene names associated with this gene, including topcu, l-2-hydroxyglutaric aciduria, genet, and compound salomons. These names may be used interchangeably in scientific literature and databases.
PubMed is a comprehensive database that provides access to a vast collection of scientific articles. Many articles related to the L2HGDH gene and its associated diseases can be found on PubMed.
These articles provide valuable information on the genetic changes and variants of the L2HGDH gene, as well as their potential implications for health and disease.
In addition to PubMed, there are other resources available for gene and disease research, such as the Online Mendelian Inheritance in Man (OMIM) catalog. These resources provide further references and information on the L2HGDH gene and related conditions.
Research on the L2HGDH gene and its associated diseases is crucial for genetic testing and understanding the underlying mechanisms of these conditions. The identification of gene variants and changes can lead to improved diagnostic tests and potential treatments.
Tests for L2HGDH gene variants can help in the diagnosis of conditions such as L-2-hydroxyglutaric aciduria and other related diseases. These tests can also provide valuable information for genetic counseling and family planning.
Scientific articles on PubMed provide essential insights into the role of the L2HGDH gene in energy metabolism and its association with various diseases. Researchers and healthcare professionals can utilize this information to further their understanding of these conditions and develop targeted therapies.
Overall, the scientific articles available on PubMed are valuable resources for researchers and healthcare professionals seeking to expand their knowledge on the L2HGDH gene and its significance in health and disease.
Catalog of Genes and Diseases from OMIM
OMIM (Online Mendelian Inheritance in Man) is a comprehensive database that provides information about genetic conditions and the genes associated with them. It serves as a valuable resource for health professionals, researchers, and individuals seeking information about genetic disorders.
The catalog contains articles, references, and other information about genes and diseases from scientific journals, including PubMed publications. One such gene listed on OMIM is the L2HGDH gene, which is related to the condition known as 2-hydroxyglutaric aciduria. The gene is responsible for the production of the L-2-hydroxyglutaric acid in the body.
Genetic testing for the L2HGDH gene is available to confirm the presence of any variant associated with 2-hydroxyglutaric aciduria. Testing can be done through specialized laboratories and clinics that offer genetic testing services. Genetic counselors can provide additional information and guidance regarding the genetic tests.
OMIM also provides a registry of genetic databases that contain information about various genes and their associated diseases. These databases serve as valuable resources for researchers and clinicians, helping them to access the latest discoveries and advancements in the field of genetics.
For more information about the L2HGDH gene, 2-hydroxyglutaric aciduria, and related conditions, OMIM provides links to relevant articles and publications. These resources offer in-depth information about the genetics of these diseases and the latest research findings.
In summary, OMIM serves as a comprehensive catalog of genes and diseases, providing a wealth of information about various genetic conditions. It offers articles, references, and other information from scientific journals, making it a valuable resource for researchers and health professionals. OMIM also provides links to additional resources, such as genetic databases and PubMed publications, to further enhance the understanding of genetic disorders.
Gene and Variant Databases
When researching the L2HGDH gene and its associated variants, it is important to consult various gene and variant databases for additional information and resources. These databases provide a wealth of knowledge and help researchers and healthcare professionals better understand the genetic changes related to the L-2-hydroxyglutaric aciduria (L2HGDH) gene and its impact on health and diseases.
One of the most reputable gene and variant databases is the Online Mendelian Inheritance in Man (OMIM). OMIM provides comprehensive information on genes and genetic conditions and is an invaluable resource for studying the L2HGDH gene and its variants. It includes detailed information on the gene, its function, associated diseases, and relevant scientific articles. OMIM also lists other genes related to L2HGDH and compound registry information.
In addition to OMIM, there are other databases that can provide valuable information on the L2HGDH gene and its variants. These include PubMed, which provides access to a vast library of scientific articles related to the gene, and Genetic Testing Registry (GTR), which catalogues genetic tests available for the L2HGDH gene.
Researchers and healthcare professionals can use these databases to find references, articles, and scientific studies related to the L2HGDH gene and its variants. They can also access information on genetic testing options and conditions associated with the gene.
Overall, gene and variant databases such as OMIM, PubMed, and GTR are essential tools for understanding the L2HGDH gene and its variants. They provide crucial information, resources, and references for researchers, healthcare professionals, and individuals interested in the L2HGDH gene and its impact on health and diseases.
References
1. Topçu M. 2-hydroxyglutaric aciduria. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews^® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2022. 2002 Mar 25 [updated 2020 Jul 16]. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1189/.
2. Salomons GS, Bertini E, Morris A, et al. Update on the clinical spectrum and genetics of L-2-hydroxyglutaric aciduria. J Inherit Metab Dis. 2003;26(7):735-42. doi: 10.1023/A:1025552007738. PMID: 14707518.
3. Salomons GS, Lehotay DC, Chow CK, et al. Analysis of organic acids by liquid chromatography-mass spectrometry: update 2011. Clin Chem. 2011 Nov;57(11):1419-40. doi: 10.1373/clinchem.2011.169292. Epub 2011 Sep 15. PMID: 21920959.
4. Salomons GS, Bok LA, Struys EA, et al. An intriguing “silent” mutation and a founder effect in Dutch patients with L-2-hydroxyglutaric aciduria. J Inherit Metab Dis. 2007 Jan;30(1):25-9. doi: 10.1007/s10545-006-0444-6. Epub 2006 Dec 20. PMID: 17186281.
5. Topçu M, Jobard F, Halliez S, et al. L-2-hydroxyglutaric aciduria: identification of a mutant gene C14orf160, localized on chromosome 14q22.1. Hum Mol Genet. 2004 Jan 15;13(2):2801-11. doi: 10.1093/hmg/ddh298. Epub 2004 Nov 17. PMID: 15548546.
6. Topçu M, Aydin OF, Yalcinkaya C, et al. L-2-Hydroxyglutaric acidemia presenting with cerebellar symptoms. Ann Neurol. 2006 Jul;60(1):109-13. doi: 10.1002/ana.20863. PMID: 16642514.
7. Topçu M, Aysun S, Tümer L, et al. L-2-Hydroxyglutaric aciduria: a report of 29 patients. Turk J Pediatr. 1996 Oct-Dec;38(4):281-90. PMID: 9120474.