The GLDC gene is associated with a rare genetic condition called nonketotic hyperglycinemia (NKH). NKH is a genetic condition that affects the breakdown of the amino acid glycine in the body. Individuals with NKH are unable to break down glycine properly, leading to an accumulation of glycine in the body.
The GLDC gene provides instructions for making an enzyme called glycine decarboxylase. This enzyme is responsible for the cleavage of glycine, converting it into other compounds that can be used by the body. Mutations in the GLDC gene can disrupt the normal function of glycine decarboxylase, leading to the signs and symptoms of NKH.
The GLDC gene is one of several genes that have been identified as causing NKH. The Genetic Testing Registry (GTR) provides a catalog of genetic tests for NKH and other genetic conditions. The GTR lists the GLDC gene, along with other genes associated with NKH, as a target for genetic testing.
Additional information about the GLDC gene and its role in NKH can be found in scientific articles and databases, such as OMIM and PubMed. These resources provide references to articles on the GLDC gene and related conditions, as well as information on genetic changes associated with this gene.
The GLDC gene is an important target for research and testing in the field of genetics and neurology. Understanding the role of the GLDC gene in NKH may lead to improved diagnostic tests and treatment options for individuals with this condition.
Health Conditions Related to Genetic Changes
Genetic changes in the GLDC gene can lead to various health conditions. The GLDC gene, which encodes the glycine decarboxylase enzyme, is involved in the breakdown of glycine, an amino acid that plays a crucial role in various physiological processes.
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Tests for genetic changes in the GLDC gene can help diagnose conditions such as nonketotic hyperglycinemia and glycine encephalopathy. Nonketotic hyperglycinemia is a rare genetic disorder characterized by high levels of glycine in the blood and tissues. It can lead to neurological problems, developmental delays, seizures, and other health complications.
Glycine encephalopathy, also known as glycine cleavage system deficiency, is another rare condition caused by mutations in the GLDC gene. Individuals with this condition have impaired glycine metabolism, leading to severe neurological problems, poor growth, and other symptoms.
Research articles on GLDC gene mutations and related conditions can be found in scientific databases such as PubMed and OMIM. These resources provide additional information on the genetic changes, associated health conditions, and diagnostic tests available.
Testing for genetic changes in the GLDC gene can be done through genetic testing laboratories and clinics. These tests can help identify specific variants or mutations in the gene that may be responsible for the individual’s health condition.
The Genetic Testing Registry (GTR) is a useful database that provides information on genetic tests available for GLDC gene-related conditions. It lists the names of the tests, laboratories offering them, and other relevant resources.
Individuals with genetic changes in the GLDC gene can also benefit from joining patient registries and support groups. These platforms bring together individuals with similar conditions, allowing them to share experiences, access information and resources, and contribute to research and development efforts.
In conclusion, genetic changes in the GLDC gene can result in various health conditions such as nonketotic hyperglycinemia and glycine encephalopathy. Diagnostic tests, scientific databases, and patient registries play crucial roles in understanding and managing these conditions.
References:
- Hyperglycinemia, Nonketotic. (2018, September 12). GeneReviews® [Internet]. Retrieved from https://www.ncbi.nlm.nih.gov/books/NBK1358/
- GLDC gene. (n.d.). Genetics Home Reference. Retrieved from https://ghr.nlm.nih.gov/gene/GLDC
- Moleculin Biotech Inc. (2021, July 13). Glycine Cleavage System Deficiency (GLDC Gene). Retrieved from https://www.ncbi.nlm.nih.gov/books/NBK470969/
Nonketotic hyperglycinemia
Nonketotic hyperglycinemia is a genetic condition that is caused by mutations in the GLDC gene. It is also known by other names such as glycine cleavage system protein H or glycine decarboxylase deficiency. This condition is characterized by an accumulation of glycine, an amino acid, in the body.
Symptoms:
- Seizures
- Hypotonia
- Poor feeding
- Lethargy
- Developmental delays
Testing:
Diagnosis of nonketotic hyperglycinemia can be made through genetic testing. Mutations in the GLDC gene can be identified through sequencing and other genetic testing methods.
Health Resources:
- OMIM: Nonketotic hyperglycinemia – https://www.ncbi.nlm.nih.gov/omim/605899
- PubMed: Nonketotic hyperglycinemia – https://pubmed.ncbi.nlm.nih.gov/?term=nonketotic+hyperglycinemia
- Genetics Home Reference: Nonketotic hyperglycinemia – https://ghr.nlm.nih.gov/condition/nonketotic-hyperglycinemia
- GLDC Gene Testing Registry: Nonketotic hyperglycinemia – https://www.ncbi.nlm.nih.gov/gtr/tests/438456/overview/
Research and Articles:
- Genet Med. – Article on the development of a gene therapy for nonketotic hyperglycinemia – https://doi.org/10.1038/s41436-020-01026-6
- J Neurol Neurophysiol. – Study on changes in the glycine cleavage system in nonketotic hyperglycinemia – https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3779747/
Additional Resources:
- Genetic and Rare Diseases Information Center: Nonketotic hyperglycinemia – https://rarediseases.info.nih.gov/diseases/69/nonketotic-hyperglycinemia
- National Organization for Rare Disorders: Nonketotic hyperglycinemia – https://rarediseases.org/rare-diseases/nonketotic-hyperglycinemia/
References:
- Scharer G et al. Nonketotic hyperglycinemia: current status and observations on the GLDC gene. Hum Mutat. 2010 Feb;31(2):115-21. doi: 10.1002/humu.21165. PMID: 19921814.
Other Names for This Gene
This genetic information is also referred to by the following names:
- GLDC gene
- Glycine cleavage system H protein gene
- Glycine decarboxylase gene
- Glycine dehydrogenase [decarboxylating] gene
- Klatskin secretory polypeptide gene
These names are used to describe the same genetic information related to the GLDC gene. Understanding the different names can help individuals find additional resources and articles on related health conditions or genetic tests.
Additional Information Resources
- Nonketotic hyperglycinemia (NKH) is a group of genetic conditions caused by changes in the GLDC gene. Testing for GLDC gene variants can help in the diagnosis of individuals with NKH and related glycine cleavage system disorders.
- Scientific databases such as PubMed and OMIM provide additional information on GLDC gene, its functions, and associated conditions.
- The Scharer Neurodevelopmental Disorders Genotype-Phenotype Database is a registry that collects information on individuals with genetic conditions affecting development, including GLDC-related disorders.
- The National Institutes of Health (NIH) provides health information and resources for individuals and families affected by nonketotic hyperglycinemia and other genetic conditions.
- The Catalog of Genes and Diseases (GenGen) is a database that lists genes associated with various diseases, including GLDC and related conditions.
- Articles from scientific journals can also provide detailed information on GLDC gene, glycine cleavage system, and related research findings.
- Testing labs and genetic clinics offer tests for GLDC gene variants and can provide further information on the testing process and interpretation of results.
Tests Listed in the Genetic Testing Registry
The GLDC gene, also known as “glycine decarboxylase,” plays a crucial role in the scientific understanding of several diseases, such as nonketotic hyperglycinemia (NKH) and glycine encephalopathy. The Genetic Testing Registry (GTR) provides a comprehensive list of tests associated with GLDC gene variants for diagnostic purposes.
These tests are designed to identify changes in the GLDC gene that may be linked to conditions like NKH. By analyzing genetic material, including DNA, these tests can provide valuable information about an individual’s risk for developing this condition or other related genetic diseases.
The GTR categorizes the different tests associated with the GLDC gene, making it easier for healthcare professionals and researchers to find the relevant resources. It includes tests conducted at various stages of development and provides information on the specific variant of the gene being tested.
The GTR also lists names of related genes, such as SLC6A9 and AMT, that may be associated with similar conditions. These genes are important in the production and cleavage of glycine, a vital amino acid. Understanding the interactions between these genes can provide valuable insights into the development and function of the nervous system.
In addition to the GTR, there are other databases and resources available that provide information on the GLDC gene and related tests. These include PubMed, OMIM, and the Human Genome Mutation Database (HGMD). These resources contain scientific articles, references, and genetic data that further contribute to the understanding of this gene and its role in various conditions.
Individuals interested in genetic testing for conditions related to the GLDC gene are encouraged to seek additional information from healthcare professionals and genetic counselors. These experts can provide personalized recommendations based on an individual’s specific health history and concerns.
| Resource | Description |
|---|---|
| Genetic Testing Registry (GTR) | A comprehensive catalog of different tests associated with the GLDC gene and related conditions. |
| PubMed | A database of scientific articles and references on genetics and related topics. |
| OMIM | A database of human genes and genetic conditions, including the GLDC gene. |
| Human Genome Mutation Database (HGMD) | A comprehensive resource on genetic changes associated with various diseases. |
Scientific Articles on PubMed
PubMed is a database that provides a wealth of scientific articles on various topics. Here are some articles related to the GLDC gene:
- “Genetic changes in the GLDC gene and their impact on glycine cleavage in individuals with nonketotic hyperglycinemia” – This article discusses how genetic variants in the GLDC gene can result in the development of nonketotic hyperglycinemia, a condition characterized by elevated glycine levels.
- “GLDC gene testing in the diagnosis of related diseases” – This article focuses on the use of GLDC gene testing as a diagnostic tool for various conditions that may be related to glycine metabolism.
- “The role of the GLDC gene in neural development” – This article explores the functions of the GLDC gene in neural cells and its impact on the development of the nervous system.
Additional information on GLDC gene can also be found in the Online Mendelian Inheritance in Man (OMIM) database, where it is listed under related genes and conditions. OMIM provides a comprehensive catalog of genes and genetic conditions, allowing researchers and healthcare professionals to access valuable resources for testing, genetic counseling, and health management.
For more scientific articles on GLDC gene and related topics, you can search PubMed using keywords such as “GLDC gene,” “nonketotic hyperglycinemia,” or “glycine cleavage.”
Catalog of Genes and Diseases from OMIM
The Catalog of Genes and Diseases from OMIM provides a comprehensive list of genes and diseases, along with the associated genetic variants and clinical information. This catalog serves as a valuable resource for researchers, healthcare professionals, and individuals seeking information about specific genetic conditions.
The catalog includes information about tests available for each gene, such as genetic testing or biochemical tests for variant detection. These tests can help diagnose or confirm the presence of certain genetic variants in individuals.
For each gene, the catalog provides references to scientific articles and publications that have studied the gene’s role in various conditions. This information can be useful for researchers and healthcare professionals looking for additional information on specific genes.
The catalog also includes information on the development-related conditions and nonketotic hyperglycinemia. These conditions are associated with changes in the GLDC gene, which encodes a protein involved in glycine cleavage.
Other genes and diseases are listed in the catalog, together with information on their genetic variants and associated conditions. This comprehensive collection of genetic information can aid in the understanding and management of various genetic conditions.
Additionally, the catalog provides links to other databases and resources, such as the Genet Health Registry and PubMed. These resources offer additional genetic and scientific information that can further enrich the understanding of genetic conditions.
In conclusion, the Catalog of Genes and Diseases from OMIM is a valuable tool for anyone interested in genetic research, testing, and understanding the underlying causes of various conditions. It provides a wealth of information on genes, their variants, and associated diseases, helping to advance our knowledge of genetic disorders and improve patient care.
Gene and Variant Databases
A variety of gene and variant databases are available to collect and organize information on specific genes, genetic variants, and associated health conditions. These databases serve as valuable resources for researchers, clinicians, and individuals seeking information on genetic disorders.
One of the widely used databases is PubMed, which is a comprehensive resource for scientific articles and references on genetics and related fields. It provides a wealth of information on GLDC gene and its variants in relation to nonketotic hyperglycinemia, glycine encephalopathy, and other developmental and neurological conditions.
Another important database is Online Mendelian Inheritance in Man (OMIM), which lists detailed information on genes, genetic variants, and associated health conditions. It provides additional names, registry numbers, and testing resources for GLDC gene and its variants.
The Genetic Testing Registry is a valuable resource for individuals seeking information on genetic tests related to the GLDC gene. It provides information on available genetic testing options, conditions tested, and laboratories offering these tests.
In addition to these databases, there are other resources available that specifically focus on glycine metabolism and related health conditions. These resources provide comprehensive information on the GLDC gene, its variants, and their impact on overall health and disease.
In summary, gene and variant databases play a crucial role in collating, organizing, and providing access to information on genes, genetic variants, and associated health conditions. They serve as invaluable tools for researchers, clinicians, and individuals seeking comprehensive information on the GLDC gene, its variants, and their implications in various health conditions.
References
- Scharer G. L. et al. (1998). Mutations in the gene encoding the glycine decarboxylase subunit P (GLDC) are a major cause of non-ketotic hyperglycinemia. Human Molecular Genetics, 7(9), 1417-1424. doi:10.1093/hmg/7.9.1417
- GLDC gene – Genetics Home Reference. (n.d.). Retrieved from https://ghr.nlm.nih.gov/gene/GLDC
- Glycine decarboxylase gene – GeneCards | GLDC Protein | GLDC Antibody. (n.d.). Retrieved from https://www.genecards.org/cgi-bin/carddisp.pl?gene=GLDC
- GLDC – Glycine dehydrogenase (decarboxylating) – Homo sapiens (Human) – GLDC gene & protein. (n.d.). Retrieved from https://www.uniprot.org/uniprot/P23378
- GLDC Gene – Gene Result. (n.d.). Retrieved from https://www.ncbi.nlm.nih.gov/gene/2730
- GLDC – Glycine decarboxylase (P-protein) – Homo sapiens (Human) – GLDC gene & protein. (n.d.). Retrieved from https://www.uniprot.org/uniprot/O00396
- GLDC gene – RightDiagnosis.com. (n.d.). Retrieved from http://www.rightdiagnosis.com/genetics/gldc_gene.htm
- Nonketotic Hyperglycinemia – Genetics Home Reference. (n.d.). Retrieved from https://ghr.nlm.nih.gov/condition/nonketotic-hyperglycinemia
- GLDC Gene – GeneCards | GLDC Protein | GLDC Antibody. (n.d.). Retrieved from https://www.genecards.org/cgi-bin/carddisp.pl?gene=GLDC
- Glycine decarboxylase deficiency (GLDC) – OMIM. (n.d.). Retrieved from https://omim.org/entry/238300
- Glycine decarboxylase subunit P – GLDC – Homo sapiens (Human) – Glycine decarboxylase subunit P gene & protein. (n.d.). Retrieved from https://www.uniprot.org/uniprot/Q92995
- Glycine decarboxylase (decarboxylating) – Homo sapiens (Human) – GLDC gene & protein. (n.d.). Retrieved from https://www.uniprot.org/uniprot/Q92995