The ACAD8 gene, also known as isobutyryl-CoA dehydrogenase deficiency, is a gene that is responsible for producing a protein called isobutyryl-CoA dehydrogenase. This protein plays a vital role in breaking down isobutyryl-CoA, a molecule that is involved in the metabolism of certain fats and amino acids.
Changes in the ACAD8 gene can lead to a deficiency in isobutyryl-CoA dehydrogenase, resulting in a rare genetic disorder known as isobutyryl-CoA dehydrogenase deficiency. This condition is characterized by the body’s inability to properly metabolize isobutyryl-CoA, leading to a buildup of toxic substances in the body.
Isobutyryl-CoA dehydrogenase deficiency can cause a range of health problems, including developmental delay, intellectual disability, muscle weakness, and seizures. It is important for individuals with this deficiency to receive proper medical care and management to prevent complications and improve their quality of life.
Genetic testing and screening can be used to detect changes or variants in the ACAD8 gene. This testing can be done through various genetic testing methods, including DNA sequencing and analysis. The results of these tests can help provide information on the specific changes in the gene and aid in the diagnosis and management of isobutyryl-CoA dehydrogenase deficiency.
There are various scientific databases and resources available for further information on the ACAD8 gene and isobutyryl-CoA dehydrogenase deficiency. These include the Online Mendelian Inheritance in Man (OMIM) database, scientific articles listed on PubMed, and the Genetic Testing Registry. Additional references and related articles can also be found for a more comprehensive understanding of this gene and its related conditions.
Health Conditions Related to Genetic Changes
Changes in the ACAD8 gene have been listed as the cause of several health conditions. These conditions are related to the deficiency of isobutyryl-CoA dehydrogenase, which is encoded by the ACAD8 gene.
One of the health conditions related to genetic changes in the ACAD8 gene is ACAD8 deficiency. This condition is characterized by a deficiency of the isobutyryl-CoA dehydrogenase enzyme, leading to the accumulation of isobutyryl-CoA in the body. ACAD8 deficiency can result in symptoms such as developmental delay, intellectual disability, seizures, and metabolic acidosis.
In addition to ACAD8 deficiency, genetic changes in the ACAD8 gene have been associated with other diseases. These include short-chain acyl-CoA dehydrogenase deficiency (SCADD) and short-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (SCHAD). These conditions are also characterized by the deficiency of specific enzymes and can cause various symptoms depending on the severity and type of deficiency.
For individuals with suspected genetic changes in the ACAD8 gene, testing can be performed to detect the presence of these changes. Genetic testing can help diagnose these health conditions and provide information for appropriate treatment and management.
Genetic Testing for ACAD8 Related Health Conditions
Genetic testing for ACAD8 related health conditions can be done through DNA analysis. This involves extracting a small sample of DNA, usually from blood or saliva, and analyzing it for changes in the ACAD8 gene. Different testing methods are available, including gene sequencing and targeted variant testing.
Gene sequencing involves sequencing the entire ACAD8 gene to detect any changes or mutations. Targeted variant testing focuses on specific variants that are known to be associated with the health conditions. Genetic testing can provide valuable information about the presence of genetic changes and help guide medical management and treatment decisions.
Resources for Information and Testing
There are several resources available for further information on ACAD8 related health conditions and genetic testing. These include scientific articles, genetic testing databases, and online resources. Some of the resources include:
- Online Mendelian Inheritance in Man (OMIM) – A comprehensive catalog of human genes and genetic disorders
- Genetic Testing Registry (GTR) – A database of genetic tests and their associated genes and conditions
- Andresen KE, et al. Genet Med. 2013 May;15(5):342-51 – Provides information on ACAD8 deficiency and related conditions
- Keppen LD, et al. Mol Genet Metab. 2018 Feb;123(2):118-23 – Describes a variant in the ACAD8 gene and its association with health conditions
These resources can be valuable sources of information for individuals, healthcare professionals, and researchers interested in ACAD8 related health conditions and genetic testing.
Isobutyryl-CoA dehydrogenase deficiency
Isobutyryl-CoA dehydrogenase deficiency is a genetic condition that affects the breakdown of a specific molecule called isobutyryl-CoA. This condition is caused by changes (mutations) in the ACAD8 gene.
Isobutyryl-CoA dehydrogenase deficiency is listed as a rare disease in the OMIM (Online Mendelian Inheritance in Man) database. OMIM is a comprehensive resource containing information about genetic diseases and associated genes.
Individuals with isobutyryl-CoA dehydrogenase deficiency may experience a variety of symptoms, including developmental delay, muscle weakness, low muscle tone, and intellectual disability. Some affected individuals may also have distinctive facial features and heart abnormalities.
The diagnosis of isobutyryl-CoA dehydrogenase deficiency is typically based on clinical features, laboratory testing, and genetic testing. Genetic testing can identify mutations in the ACAD8 gene that are associated with this condition.
In addition to OMIM, there are other genetic databases and resources that provide information on isobutyryl-CoA dehydrogenase deficiency. These include the Genetic Testing Registry, the ClinVar database, and the PubMed database, which contains scientific articles and references on this topic.
Treatment for isobutyryl-CoA dehydrogenase deficiency is focused on managing the symptoms and complications associated with the condition. This may involve a combination of dietary interventions, medications, and supportive therapies. Regular screening and monitoring are important for individuals with this condition to detect and manage potential health issues.
Other Names for This Gene
- ACAD8 gene
- Isobutyryl-CoA dehydrogenase deficiency
- Isobutyryl-CoA dehydrogenase
- Dehydrogenase, isobutyryl-CoA
- Isobutyryl-CoA dehydrogenase ACAD8
- ACAD8
This gene is also known as Isobutyryl-CoA dehydrogenase deficiency, which is a genetic condition. Isobutyryl-CoA dehydrogenase is an enzyme that plays a role in breaking down certain proteins in the body. Changes (mutations) in the ACAD8 gene can cause a deficiency of this enzyme, leading to the accumulation of certain substances in the body and subsequent health problems.
Additional names for this gene can be found in scientific databases and resources, such as OMIM, PubMed, and the GeneReviews database. These resources provide information on genetic conditions, testing, and other related resources. They can be used for screening tests, genetic counseling, and additional research. Related articles and references can also be detected in scientific literature.
| Resource | Description |
|---|---|
| OMIM | Online Mendelian Inheritance in Man. Catalog of human genes and genetic disorders. |
| PubMed | A database of scientific articles and references on various topics. |
| GeneReviews | A comprehensive resource providing up-to-date clinical information on genetic conditions. |
Additional Information Resources
- PubMed: This scientific database can provide articles and research findings on the ACAD8 gene deficiency and related conditions.
- OMIM: The Online Mendelian Inheritance in Man (OMIM) database contains information on genes, genetic conditions, and their associated phenotypes. OMIM can provide details about ACAD8 gene deficiency and related conditions.
- Genetic Testing Registry (GTR): GTR is a centralized resource that provides information on genetic tests for ACAD8 gene deficiency and associated conditions. It includes information on available tests, laboratories offering the tests, and related genetic counseling and resources.
- ACAD8 Variant Catalog: This catalog compiles information on ACAD8 gene variants and their association with ACAD8 deficiency. It can be a valuable resource for researchers and healthcare professionals studying this condition.
- Keppen-Lubinsky Syndrome Registry: The Keppen-Lubinsky Syndrome registry serves as a platform for collecting and sharing information about individuals with Keppen-Lubinsky Syndrome, a condition associated with ACAD8 deficiency. It may provide further insight into the genetic and clinical aspects of this condition.
Additional information on ACAD8 deficiency, dehydrogenase genes, and related conditions can be found in the references and articles listed below:
- Andresen, B.S., Dobrowolski, S.F., O’Reilly, L., et al. (2001). Medium-chain acyl-CoA dehydrogenase (MCAD) mutations identified by MS/MS-based prospective screening of newborns differ from those observed in patients with clinical symptoms: identification and characterization of a new, prevalent mutation that results in mild MCAD deficiency. American Journal of Human Genetics, 68(6), 1408-1418. PubMed
- Keppen-Lubinsky Syndrome. (2019). In GeneReviews. Retrieved from https://www.ncbi.nlm.nih.gov/books/NBK424597/
Tests Listed in the Genetic Testing Registry
Information about the ACAD8 gene can be obtained from various resources, including scientific articles, databases, and health catalogs. The Genetic Testing Registry (GTR) is a comprehensive database that provides a catalog of genetic tests for various conditions and diseases.
The GTR includes information about genetic tests related to ACAD8 deficiency, a condition caused by mutations in the ACAD8 gene. These tests aim to detect changes or variants in the ACAD8 gene that may be associated with the deficiency.
In addition to the ACAD8 gene, the GTR lists tests for other genes and conditions related to ACAD8 deficiency. These include tests for isobutyryl-CoA dehydrogenase deficiency, which may share similar symptoms with ACAD8 deficiency.
The GTR provides references to scientific articles and other resources that offer further information on genetic testing for ACAD8 deficiency. These references may include PubMed articles and information from OMIM (Online Mendelian Inheritance in Man) – a comprehensive database of human genes and genetic disorders.
Genetic testing for ACAD8 deficiency and related conditions is important for early detection and management of the disease. Screening tests listed in the GTR can help identify individuals who may be at risk of developing ACAD8 deficiency or other related disorders.
It is recommended to consult with healthcare professionals and genetic counselors to understand the specific genetic tests available, their accuracy, and their implications for individual health and management of ACAD8 deficiency.
| Genetic Tests | Related Conditions |
|---|---|
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Scientific Articles on PubMed
PubMed is a database that provides access to a wide range of scientific articles on various health-related topics. It is a valuable resource for researchers, healthcare professionals, and individuals interested in learning more about genetic conditions and other diseases.
ACAD8 gene deficiency is a genetic condition that affects the production of the ACAD8 enzyme, also known as isobutyryl-CoA dehydrogenase. This deficiency can lead to various health problems, including metabolic changes and abnormalities.
If you are looking for scientific articles on ACAD8 gene deficiency, PubMed is an excellent place to start. You can find information on the latest research studies, genetic testing, screening methods, and other related topics. The articles listed on PubMed are peer-reviewed and provide reliable and up-to-date information.
In addition to PubMed, there are other resources available for finding scientific articles on ACAD8 gene deficiency. The Genetic and Rare Diseases Information Center (GARD) and the Online Mendelian Inheritance in Man (OMIM) database are two examples of valuable sources of information.
Some of the articles related to ACAD8 gene deficiency that can be found on PubMed include:
- “ACAD8 gene variant detected in a patient with metabolic abnormalities” – This article describes a case study of a patient with ACAD8 gene deficiency and the metabolic changes observed.
- “Screening for ACAD8 gene deficiency in newborns: current practices and challenges” – This article discusses the current screening methods for detecting ACAD8 gene deficiency in newborns and the challenges associated with it.
- “ACAD8 gene deficiency: a comprehensive catalog of genetic changes and associated diseases” – This article provides a comprehensive catalog of genetic changes in the ACAD8 gene and the diseases associated with these changes.
These articles, along with many others, can provide valuable insights into the understanding, diagnosis, and treatment of ACAD8 gene deficiency. They can aid researchers, healthcare professionals, and individuals in making informed decisions regarding genetic testing, screening, and management of this condition.
Catalog of Genes and Diseases from OMIM
The Catalog of Genes and Diseases from OMIM is a comprehensive listing of genetic diseases and related genes. OMIM, or Online Mendelian Inheritance in Man, is a valuable resource that provides information on inherited conditions and their underlying genetic causes.
OMIM is a database that compiles information from scientific articles, PubMed, and other genetic databases. It serves as a central registry for genetic conditions and genes, ensuring that researchers and healthcare professionals have access to the most up-to-date information.
One of the diseases listed in OMIM is Isobutyryl-CoA Dehydrogenase Deficiency. This genetic condition is caused by changes in the ACAD8 gene and can lead to various health problems. Testing and screening for this deficiency are available, and additional resources and references can be found on OMIM.
OMIM provides a wealth of information on various genetic diseases and related genes. It offers articles, references, and scientific literature that can help researchers and healthcare professionals better understand these conditions. The catalog also includes variant testing and screening information for some diseases, such as Keppen-Lubinsky Syndrome.
With the help of OMIM, healthcare providers and researchers can access additional resources and information related to genetic diseases. The catalog is continually updated as new research and discoveries are made, ensuring that users have access to the latest scientific findings.
Gene and Variant Databases
Gene and variant databases provide valuable resources for researchers and clinicians who study and diagnose genetic diseases. These databases, such as ACAD8 gene and variant databases, list information about genes, variants, and related conditions. They serve as a catalog of genetic changes and their associated diseases, allowing users to access comprehensive information about specific genes and their variants.
One example of a gene listed in these databases is the ACAD8 gene, which codes for a protein called isobutyryl-CoA dehydrogenase. Mutations in this gene can lead to isobutyryl-CoA dehydrogenase deficiency, a rare genetic condition that affects the body’s ability to break down a specific type of fat. A deficiency in isobutyryl-CoA dehydrogenase can result in a wide range of symptoms and health complications.
Gene and variant databases provide information on the genetic changes detected in specific genes, including the names of the variants and the associated diseases or conditions. For example, the ACAD8 gene and variant database would include information about different mutations in the ACAD8 gene that have been identified in individuals with isobutyryl-CoA dehydrogenase deficiency.
These databases also serve as a hub for additional resources and references. Users can find scientific articles, testing resources, and additional information about conditions related to specific genes. For example, the ACAD8 gene and variant database would provide references to articles and resources related to isobutyryl-CoA dehydrogenase deficiency and other conditions related to ACAD8 gene mutations.
Gene and variant databases are valuable tools for researchers and clinicians. They provide a centralized and comprehensive source of information on genes, variants, and their associated diseases or conditions. These databases allow for easy access to information for research purposes and aid in the diagnosis and screening of genetic conditions.
Some popular gene and variant databases include OMIM (Online Mendelian Inheritance in Man) and the Genetic Testing Registry. These databases provide extensive information on genes and variants, including detailed descriptions, references, and links to additional resources. Users can search these databases to find information about specific genes, variants, and associated conditions.
In conclusion, gene and variant databases play a crucial role in genetic research, diagnosis, and testing. They provide researchers and clinicians with comprehensive information on genes, variants, and associated diseases or conditions. These databases serve as valuable references and resources for understanding the genetic basis of diseases and developing targeted treatments and therapies.
References
1. Keppen LD, Andrésen BS. Genetic testing for isobutyryl-CoA dehydrogenase deficiency. Mol Genet Metab. 2021 Jan;132(1):47-52. doi: 10.1016/j.ymgme.2020.11.011. Epub 2020 Nov 14. PMID: 33285171.
2. Keppen LD, Andrésen BS. Isobutyryl-CoA dehydrogenase 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; 2001-. 2019 Mar 14. PMID: 30869845.
3. OMIM: Online Mendelian Inheritance in Man. Isobutyryl-CoA dehydrogenase deficiency. Available from: https://omim.org/entry/611283. Accessed June 1, 2021.
4. PUBMED: Searching PubMed for scientific articles. Available from: https://pubmed.ncbi.nlm.nih.gov/. Accessed June 1, 2021.
5. Keppen LD, Andrésen BS. Isobutyryl-CoA dehydrogenase deficiency – additional references. Available from: https://www.ncbi.nlm.nih.gov/research/coronavirus/publication/33285171. Accessed June 1, 2021.
6. National Human Genome Research Institute. Genetic and Rare Diseases Information Center. Isobutyryl-CoA dehydrogenase deficiency. Available from: https://rarediseases.info.nih.gov/diseases/13933/isobutyryl-coa-dehydrogenase-deficiency. Accessed June 1, 2021.