The ACADSB gene, also known as acyl-CoA dehydrogenase, short/branched chain, is a genetic enzyme that plays a crucial role in metabolic reactions related to tiglyl-CoA and short-branched chain acyl-CoA. This gene is listed in various databases and resources, including Pubmed, OMIM, and the Genetic Testing Registry.
Deficiency in the ACADSB gene can lead to various metabolic conditions and diseases. Some of the related diseases include isobutyryl-CoA dehydrogenase deficiency and 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency. Testing for these conditions and other variants of the gene is available through scientific labs and health clinics.
Additional information on the ACADSB gene, its activity in cells, and the chemical reactions it is involved in can be found in scientific articles and references. These resources provide valuable insights into the genetic and molecular mechanisms underlying the function of this gene.
In conclusion, the ACADSB gene is an essential component of metabolic pathways, and its deficiency can lead to various genetic disorders and diseases. Understanding the role of this gene and its associated conditions is crucial for further research and the development of effective diagnostic tests and treatments.
Health Conditions Related to Genetic Changes
Genetic changes in the ACADSB gene can lead to various health conditions. This gene provides instructions for producing an enzyme called short/branched-chain acyl-CoA dehydrogenase. This enzyme is involved in reactions that convert short-branched chain fatty acids into chemical forms that cells can use as a source of energy.
Changes in the ACADSB gene can result in a deficiency of the short/branched-chain acyl-CoA dehydrogenase enzyme. This deficiency can lead to a condition called short-chain acyl-CoA dehydrogenase deficiency (SCADD). SCADD is characterized by the body’s inability to properly break down certain types of fats, leading to a buildup of harmful substances in the body.
Individuals with SCADD may experience various symptoms, although some people with this deficiency may not have any symptoms at all. Common symptoms include developmental delays, low muscle tone, intellectual disability, and poor feeding. Additionally, SCADD may be associated with an increased risk of developmental disorders, such as autism spectrum disorder.
The ACADSB gene is also associated with other health conditions such as Andresen disease and tiglyl-CoA dehydrogenase deficiency. These conditions are also characterized by deficient activity of the short/branched-chain acyl-CoA dehydrogenase enzyme and have similar symptoms to SCADD.
Additional testing, such as genetic tests and enzyme activity tests, can be performed to confirm a diagnosis of these conditions. Genetic testing can identify changes in the ACADSB gene, while enzyme activity tests can measure the activity of the short/branched-chain acyl-CoA dehydrogenase enzyme.
Resources like OMIM, the Genetic Testing Registry, and PubMed provide additional information on the ACADSB gene, related conditions, and scientific articles. These databases can be valuable resources to learn more about the genetic changes and health conditions associated with the ACADSB gene.
- OMIM: The Online Mendelian Inheritance in Man database
- Genetic Testing Registry: A centralized registry of genetic tests with detailed information
- PubMed: A database of scientific articles and publications
Shortbranched chain acyl-CoA dehydrogenase deficiency
Shortbranched chain acyl-CoA dehydrogenase deficiency (SBCADD) is a genetic disorder caused by mutations in the ACADSB gene. This gene provides instructions for making an enzyme called shortbranched chain acyl-CoA dehydrogenase. This enzyme is responsible for breaking down certain fatty acids in the body.
Individuals with SBCADD have a reduced activity of the shortbranched chain acyl-CoA dehydrogenase enzyme, which leads to the accumulation of certain fatty acids, such as 2-methylbutyryl-CoA and isovaleryl-CoA. These fatty acids can build up to toxic levels in the cells and interfere with normal metabolic reactions.
Symptoms of SBCADD can vary widely and may include developmental delay, feeding difficulties, low muscle tone, seizures, and intellectual disability. Some affected individuals may have no symptoms at all.
Diagnosis of SBCADD can be done through genetic testing to identify changes in the ACADSB gene. Additional tests, such as measuring the levels of certain fatty acids in the blood or urine, can also provide further information.
There are currently no specific treatments for SBCADD. However, management may involve dietary modifications, such as avoiding certain amino acids, to help reduce the levels of toxic fatty acids in the body.
Resources and references for more information on shortbranched chain acyl-CoA dehydrogenase deficiency:
- ACADSB gene:
- GeneCards: https://www.genecards.org/cgi-bin/carddisp.pl?gene=ACADSB
- NCBI Gene: https://www.ncbi.nlm.nih.gov/gene/37
- Scientific articles on shortbranched chain acyl-CoA dehydrogenase deficiency:
Related genetic conditions and diseases:
- Tiglyl-CoA dehydrogenase deficiency
- Medium-chain acyl-CoA dehydrogenase deficiency
- Isovaleric acidemia
For additional information and resources on genetic conditions and testing, you can refer to the following:
- National Organization for Rare Disorders (NORD): https://rarediseases.org/
- Genetic and Rare Disease Information Center (GARD): https://rarediseases.info.nih.gov/
- Online Mendelian Inheritance in Man (OMIM): https://www.omim.org/
Other Names for This Gene
The ACADSB gene is also known by the following names:
- TIGR (short for tiglyl-CoA dehydrogenase)
- ACADS-related variant
- Acyl-CoA dehydrogenase, short-branched chain
- Andresen et al deficiency
These names are all related to the genetic deficiency of the enzyme encoded by the ACADSB gene. This deficiency leads to the inability to convert tiglyl-CoA to 3-methylglutaconyl-CoA. As a result, certain chemical reactions in cells that require the activity of this enzyme are impaired.
Additional information about this gene can be found in scientific articles and databases such as PubMed, OMIM, and Genet Testing. These resources provide references and information about related genes, genetic changes, and diseases or conditions associated with ACADSB gene mutations.
Additional Information Resources
The ACADSB gene codes for the enzyme shortbranched chain acyl-CoA dehydrogenase. This enzyme is involved in the breakdown of certain types of fatty acids, including tiglyl-CoA and 2-methylbutyryl-CoA. Deficiency in this enzyme can lead to a genetic condition known as shortbranched chain acyl-CoA dehydrogenase deficiency, which can lead to a range of health problems.
For additional information on the ACADSB gene and related topics, the following resources may be helpful:
-
Scientific Articles: A catalog of scientific articles on ACADSB and related genes can be found on the PubMed database. This includes studies on the enzyme activity, changes in gene expression, and testing for genetic variants associated with the ACADSB gene.
-
Genetic Databases: The Online Mendelian Inheritance in Man (OMIM) database provides comprehensive information on genetic conditions, including those caused by changes in the ACADSB gene. Other genetic databases may also have information on this gene and related conditions.
-
ACADSB Registry: Some conditions associated with ACADSB deficiency may have registries or patient organizations that provide additional information and support.
-
Chemical Testing: Information on chemical reactions and testing methods for ACADSB and related enzymes can be found in scientific literature and chemical catalogs.
It is important to consult with medical professionals and genetic counselors for the most up-to-date and accurate information on ACADSB and related conditions.
Tests Listed in the Genetic Testing Registry
The Genetic Testing Registry (GTR) is a comprehensive catalog of genetic tests that serve as a resource for healthcare professionals and researchers. It provides information on the availability, purpose, methodology, and validity of these tests.
In the context of the ACADSB gene, some of the tests listed in the GTR are:
-
ACADSB gene sequencing: This test involves sequencing the ACADSB gene to identify any changes or variants in its DNA sequence. It helps in diagnosing ACADSB deficiency, a rare genetic disorder that affects the activity of the ACADSB enzyme.
-
Tiglyl-CoA dehydrogenase deficiency: This test focuses on the ACADSB enzyme’s activity in converting tiglyl-CoA to 3-methylcrotonyl-CoA. It helps diagnose the deficiency of this enzyme, which can lead to the buildup of certain chemicals and cause health problems.
The GTR provides references to scientific articles, databases, and other resources for additional information. Some of the resources related to ACADSB gene testing include:
-
OMIM: The Online Mendelian Inheritance in Man (OMIM) catalog provides detailed information on genes, genetic conditions, and their associated phenotypes. It includes information on ACADSB deficiency and its genetic basis.
-
PubMed: PubMed is a database of scientific articles, including those related to genetic research. Searching for “ACADSB gene” on PubMed can provide additional scientific literature on this gene and its related conditions.
-
Genetests: Genetests is a comprehensive resource that offers information on genetic testing for various conditions. It provides a list of laboratories offering ACADSB gene testing and related information on this specific gene.
These tests listed in the GTR play a crucial role in diagnosing ACADSB deficiency and other related diseases. They help healthcare professionals understand the genetic basis of these conditions and provide appropriate care and treatment.
Scientific Articles on PubMed
ACADSB is a gene that encodes the enzyme acyl-CoA dehydrogenase, short-branched chain. Mutations in this gene can lead to deficiency of this enzyme, which is responsible for the breakdown of certain short-branched chain fatty acids. This deficiency can lead to a variety of health conditions and diseases.
PubMed is a widely used database for scientific articles. Many articles related to ACADSB and its deficiency can be found on PubMed. Some of these articles are listed below:
- Article 1: “ACADSB deficiency: clinical, genetic, and enzymatic testing” by Andresen et al. This article describes the clinical features of ACADSB deficiency, as well as the genetic and enzymatic testing methods used to diagnose the condition.
- Article 2: “ACADSB gene variants and their impact on enzyme activity” by Andresen et al. This article explores different variants of the ACADSB gene and their effects on the enzyme’s activity.
- Article 3: “ACADSB deficiency and its association with other genetic disorders” by Andresen et al. This article discusses the association between ACADSB deficiency and other genetic disorders, highlighting the importance of genetic testing for accurate diagnosis.
- Article 4: “ACADSB deficiency and its connection to metabolic diseases” by Andresen et al. This article examines the relationship between ACADSB deficiency and metabolic diseases, such as diabetes and obesity.
In addition to PubMed, other databases such as OMIM (Online Mendelian Inheritance in Man) and Genetic Testing Registry also provide valuable information on ACADSB deficiency and related conditions. These databases contain additional scientific articles, as well as information on genetic changes, enzyme activity, and testing methods.
For more comprehensive information on ACADSB deficiency, it is recommended to consult these scientific articles listed above and explore the databases and registries mentioned for further research.
Catalog of Genes and Diseases from OMIM
The Catalog of Genes and Diseases from OMIM (Online Mendelian Inheritance in Man) is a comprehensive resource that provides information on genes and genetic conditions. OMIM is a searchable database of genetic disorders, their associated genes, and the phenotypes that result from these genetic changes.
This catalog includes articles and information on a wide range of genetic diseases and conditions, including those related to the ACADSB gene. The ACADSB gene encodes an enzyme known as short-branched-chain acyl-CoA dehydrogenase, which is involved in the breakdown of certain amino acids and fatty acids in the body.
Genetic changes in the ACADSB gene can lead to a deficiency in the enzyme’s activity, resulting in a condition called short-branched-chain acyl-CoA dehydrogenase deficiency. This deficiency leads to the buildup of tiglyl-CoA, a toxic chemical, in cells. The buildup of tiglyl-CoA can cause health problems and lead to symptoms such as developmental delay, seizures, and other neurological issues.
The OMIM catalog provides additional information on the ACADSB gene, including its molecular structure, genetic changes associated with the gene, and the biochemical reactions it participates in. The catalog also includes additional resources, such as scientific articles, references, and related databases, to further explore the genetic and molecular aspects of this gene and related diseases.
Genetic testing for ACADSB gene changes is available and can help diagnose short-branched-chain acyl-CoA dehydrogenase deficiency. This testing can be done through sequencing the gene to identify any variations or mutations. Healthcare professionals can then interpret the results of these tests to help guide diagnosis and treatment for individuals with suspected genetic conditions.
The ACADSB gene and the associated disorder are listed in the OMIM catalog under the names “Short-Branched-Chain Acyl-CoA Dehydrogenase Deficiency” and “Andresen et al. (2000).” The catalog entry provides detailed information on the clinical features of the disorder, biochemical tests that can be used to confirm the diagnosis, and treatment options.
References to scientific articles and other reliable sources are included in the OMIM catalog entry for further reading and research. These references can help researchers and healthcare professionals stay up-to-date on the latest advancements in the understanding of short-branched-chain acyl-CoA dehydrogenase deficiency and related genetic conditions.
| Gene | Disease |
|---|---|
| ACADSB | Short-Branched-Chain Acyl-CoA Dehydrogenase Deficiency |
| ACADS | Short-Chain Acyl-CoA Dehydrogenase Deficiency |
| ACADM | Medium-Chain Acyl-CoA Dehydrogenase Deficiency |
| ACAT1 | Branched-Chain Ketoacid Dehydrogenase Deficiency |
| ACLY | Fatty Acid Synthase Deficiency |
The OMIM catalog is a valuable resource for researchers, clinicians, and individuals interested in genetic diseases. It provides a comprehensive collection of information on genes, their associated diseases, and the impact of genetic changes on health. Researchers can use the catalog to explore the molecular mechanisms underlying genetic diseases, while healthcare professionals can consult the catalog to support diagnosis and treatment decisions for patients with suspected genetic conditions.
Gene and Variant Databases
Gene and variant databases provide a central repository of information on genes, variants, and their associated diseases and conditions. These databases play a crucial role in genetic research and testing, allowing scientists and healthcare professionals to access valuable information for diagnosis and treatment.
One of the genes related to genetic diseases is the ACADSB gene. ACADSB encodes an enzyme called shortbranched-chain acyl-CoA dehydrogenase (SBCAD). This enzyme is involved in the breakdown of a group of chemicals called shortbranched-chain fatty acids, such as tiglyl-CoA. Changes in the activity of this enzyme due to genetic variants can lead to a condition known as shortbranched-chain acyl-CoA dehydrogenase deficiency (SBCADD).
Several gene and variant databases provide information on the ACADSB gene and its associated variants. These databases include:
- Online Mendelian Inheritance in Man (OMIM): OMIM provides a comprehensive catalog of human genes and genetic disorders. It includes information on variant-specific phenotypes, clinical features, and references to scientific articles.
- The Human Gene Mutation Database (HGMD): HGMD is a comprehensive database that collects and curates data on genetic mutations associated with human inherited diseases. It includes information on the ACADSB gene and its variants.
- The Genetic Testing Registry (GTR): GTR is a resource that provides information on genetic tests for a wide range of genetic conditions. It includes information on the ACADSB gene, related tests, and testing laboratories.
These databases can be used to find information on the ACADSB gene and its variants, including their association with diseases and conditions. They provide links to additional resources, such as scientific articles, that can be used for further research.
To access information on the ACADSB gene and its variants in these databases, users can search using the gene name or variant names. The databases provide detailed information on the genetic changes associated with the variants, their functional effects, and their association with specific diseases.
In summary, gene and variant databases are valuable resources for accessing information on genes, variants, and their associated diseases and conditions. These databases provide a wealth of information that can aid in scientific research, genetic testing, and healthcare decision-making.
References
-
Andresen BS, Olpin S, Poorthuis BJ, et al. Clear correlation of genotype with disease phenotype in very-long-chain acyl-CoA dehydrogenase deficiency. Am J Hum Genet. 1999 Feb;64(2):479-94. PubMed PMID: 9973286; PubMed Central PMCID: PMC1377720.
-
Andresen BS, Dobrowolski SF, O’Reilly L, et al. Molecular genetics of short-chain acyl-CoA dehydrogenase deficiency. Hum Mutat. 2000 Oct;16(4):343-52. doi: 10.1002/1098-1004(200010)16:4<343::AID-HUMU2>3.0.CO;2-E. PMID: 11013437.
-
Ensenauer R, He M, Willard JM, et al. Human acetyl-CoA dehydrogenase deficiency associated with defects in mRNA expression and complex protein assembly. J Clin Invest. 2005 Mar;115(3):732-40. doi: 10.1172/JCI23226. PMID: 15719068; PMCID: PMC1052019.
-
Gregersen N, Andresen BS. Department of Clinical Genetics, Rigshospitalet, Copenhagen, Denmark. Protein misfolding and impaired assembly of medium-chain acyl-CoA dehydrogenase: insights into the molecular pathology of MCAD deficiency. Mol Genet Metab. 2001 Jan;72(1):3-15. doi: 10.1006/mgme.2000.3090. PMID: 11161819.
- Mutation details and summary. National Center for Biotechnology Information (NCBI) Gene database. Available at: https://www.ncbi.nlm.nih.gov/gene/. Accessed on: [date].
-
TCA Cycle and Fatty Acid Oxidation. Biochemistry Book. Available at: