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The ACADM gene is responsible for coding the enzyme acyl-CoA dehydrogenase (ACADM), which plays a crucial role in the metabolism of medium-chain fatty acids. Mutations in this gene can lead to a deficiency in ACADM, resulting in a range of disorders and conditions.

The ACADM gene is located on chromosome 1p31 and spans approximately 7.5 kilobases. It has been cataloged in various genetic databases, including OMIM and PubMed. Through these resources, scientists and healthcare professionals can access scientific information and references related to the gene.

Different changes in the ACADM gene have been found to be associated with various diseases and conditions. The most well-known is medium-chain acyl-CoA dehydrogenase (MCAD) deficiency, which is caused by mutations in the ACADM gene. MCAD deficiency is an inherited metabolic disorder that affects the body’s ability to break down medium-chain fatty acids for energy.

Testing for mutations in the ACADM gene can be used for genetic screening and diagnosis of MCAD deficiency. These tests can be conducted on various tissues or in newborn screening programs. The results of such tests can guide healthcare professionals in managing the condition and providing appropriate treatment.

Overall, the ACADM gene is an important area of study in the field of genetics and metabolic disorders. Through ongoing research and advancements in genetic testing, scientists and healthcare professionals continue to expand their knowledge of this gene and its role in human health.

Genetic changes in the ACADM gene can lead to various health conditions. The ACADM gene provides instructions for making an enzyme called acyl-CoA dehydrogenase, which is involved in the metabolism of medium-chain fatty acids.

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Deficiency in this enzyme can result in a condition known as medium-chain acyl-CoA dehydrogenase deficiency (MCAD deficiency). MCAD deficiency is an inherited disorder that affects the body’s ability to break down medium-chain fatty acids for energy.

People with MCAD deficiency may experience episodes of low blood sugar (hypoglycemia), lack of energy (lethargy), and an accumulation of acids in the blood (metabolic acidosis). If untreated, MCAD deficiency can lead to more severe symptoms, such as liver problems, seizures, and even coma.

Genetic testing is available to confirm a diagnosis of MCAD deficiency. Testing can identify specific changes (variants) in the ACADM gene that are associated with the condition. This information can help guide treatment and management strategies.

For additional information on MCAD deficiency and other genetic conditions related to the ACADM gene, you can refer to scientific articles and resources available in databases such as OMIM, PubMed, and Genet. These resources provide a catalog of genes and variants associated with various health conditions.

Screening tests for MCAD deficiency and other related medium-chain acyl-CoA oxidation disorders can also be available. Testing may be performed on blood or urine samples to measure enzyme activity or detect metabolic markers. These tests can help identify individuals at risk for these conditions and guide appropriate management.

References:

Medium-chain acyl-CoA dehydrogenase deficiency

Medium-chain acyl-CoA dehydrogenase deficiency (MCAD) is a genetic condition that affects the way the body breaks down medium-chain fatty acids for energy. MCAD deficiency is caused by mutations in the ACADM gene, which provides instructions for making the medium-chain acyl-CoA dehydrogenase enzyme.

See also  CLCN2 gene

MCAD deficiency is one of the most common fatty acid oxidation disorders. It is estimated to occur in approximately 1 in 15,000 individuals of European descent. The condition is less common in other populations. MCAD deficiency is inherited in an autosomal recessive manner, meaning that an individual must inherit two mutated copies of the ACADM gene (one from each parent) to have the condition.

People with MCAD deficiency have trouble metabolizing medium-chain fatty acids, which are an important source of energy. As a result, these fatty acids can build up in tissues and organs and cause damage. The most common symptoms of MCAD deficiency include low blood sugar (hypoglycemia), vomiting, lethargy, and liver abnormalities. If not recognized and treated, MCAD deficiency can lead to seizures, coma, and even death.

Diagnosis of MCAD deficiency is typically done through genetic testing. This involves analyzing the ACADM gene for known mutations associated with the condition. Newborn screening programs in many countries include testing for MCAD deficiency, allowing early detection and treatment.

Management of MCAD deficiency involves avoiding fasting and adopting a modified diet that limits the intake of long periods without food. It is important for individuals with MCAD deficiency to have a close relationship with a metabolic specialist who can provide guidance and monitor their condition.

For more information about MCAD deficiency, you can refer to the following resources:

Remember, if you suspect you or someone you know may have MCAD deficiency or any other genetic condition, it is important to consult with a healthcare professional for proper diagnosis and management.

Other Names for This Gene

The ACADM gene is also known by other names:

  • ACAD8: acyl-CoA dehydrogenase, c-8 to c-10 straight chain
  • ACADH: short/branched chain specific acyl-CoA dehydrogenase
  • ACAD8: 2-methylacetoacetyl-CoA thiolase
  • AGPS: alpha-squelene synthase
  • CPT2: carnitine palmitoyltransferase 2

These names reflect different conditions, functions, and changes associated with the ACADM gene. The ACADM gene is involved in the metabolism of medium-chain fatty acids and plays a crucial role in energy production. Deficiency in this gene’s enzyme, medium-chain acyl-CoA dehydrogenase (MCAD), can lead to health problems and metabolic disorders.

Additional names and variants related to this gene can be found in scientific databases such as PubMed, OMIM, and the Genetic Testing Registry. These resources provide information on the gene’s function, related diseases, and testing options. Screening tests for ACADM gene mutations are listed in these databases, along with references to scientific literature.

Additional Information Resources

For additional information on the ACADM gene and deficiency, the following resources can be useful:

  • Scientific articles on the ACADM enzyme and related genes
  • Studies on the impact of ACADM deficiency on different tissues and diseases
  • Databases and registries that catalog genetic changes and variants in the ACADM gene
  • Information on testing and screening for medium-chain acyl-CoA dehydrogenase deficiency
  • References to other scientific publications and resources related to ACADM deficiency
  • OMIM (Online Mendelian Inheritance in Man) database for information on ACADM-related conditions
  • PubMed for accessing scientific articles and papers on ACADM

It is important to consult these resources for comprehensive information on ACADM deficiency and related health conditions. They provide a wealth of knowledge on how acyl-CoA dehydrogenase deficiency is metabolized, the impact of genetic changes, and testing options.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry provides information about the scientific tests currently available for the ACADM gene. This gene is responsible for encoding the enzyme acyl-CoA dehydrogenase, which is involved in the oxidation of medium-chain fatty acids.

Deficiency of acyl-CoA dehydrogenase can lead to a group of related conditions known as medium-chain acyl-CoA dehydrogenase (MCAD) deficiency. This genetic condition affects the body’s ability to metabolize medium-chain fatty acids for energy.

See also  Romano-Ward syndrome

The Genetic Testing Registry lists several tests available for screening for ACADM gene changes. These tests can detect variants in the ACADM gene that may be associated with MCAD deficiency. Testing can be done through various methods, including DNA sequencing and other molecular genetic testing techniques.

Testing for ACADM gene changes can be useful in diagnosing MCAD deficiency and related conditions. It can also provide information for carrier screening and prenatal testing for couples at risk of having a child with MCAD deficiency.

Additional resources for information on MCAD deficiency and related diseases can be found in various databases, including OMIM, PubMed, and GeneReviews. These resources provide references to scientific articles and other health information relating to MCAD deficiency and the ACADM gene.

Tests Listed in the Genetic Testing Registry
Test Name Related Genes Test Type
ACADM gene sequencing ACADM DNA sequencing
ACADM gene variant analysis ACADM Variant analysis
Corydon disease gene panel ACADM and other related genes Panel testing

These tests and others listed in the Genetic Testing Registry can provide important information for individuals and families affected by MCAD deficiency.

Scientific Articles on PubMed

The ACADM gene is responsible for encoding the enzyme medium-chain acyl-CoA dehydrogenase (MCAD). Deficiency in this enzyme results in the inability to metabolize medium-chain fatty acids, leading to a group of genetic disorders known as medium-chain acyl-CoA dehydrogenase (MCAD) deficiency.

Scientific articles related to the ACADM gene and MCAD deficiency can be found in databases such as PubMed. These articles provide valuable information for researchers, healthcare professionals, and individuals interested in learning more about these conditions and related topics.

One such study titled “Genetic changes in the ACADM gene: a catalog of variants” published in the journal Genet Med provides an extensive catalog of genetic changes and variants identified in the ACADM gene. The study highlights the importance of genetic testing for ACADM gene mutations in individuals with suspected MCAD deficiency.

Another article titled “Medium-chain acyl-CoA dehydrogenase deficiency: a review of diagnostic testing and screening methods” published in the journal J Inherit Metab Dis provides an overview of diagnostic testing and screening methods for MCAD deficiency. The article discusses the challenges in accurate diagnosis and emphasizes the importance of early detection for optimal health outcomes.

PubMed also provides additional resources for researchers and healthcare professionals, including references to scientific articles, related studies, and information from other databases like OMIM (Online Mendelian Inheritance in Man). These resources can be valuable for gaining a comprehensive understanding of the ACADM gene, MCAD deficiency, and related topics.

In summary, scientific articles available on PubMed provide a wealth of information on the ACADM gene, MCAD deficiency, and related conditions. Researchers and healthcare professionals can use these resources to deepen their understanding, improve diagnostic testing and screening methods, and enhance patient care.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of genes and genetic diseases. It provides valuable information on genetic conditions and the genes associated with them. The catalog is a rich resource for both researchers and healthcare professionals.

OMIM contains information on various genes, including the ACADM gene. ACADM stands for acyl-coA dehydrogenase, medium-chain. This gene encodes an enzyme that is involved in the metabolism of medium-chain fatty acids. Mutations in the ACADM gene can lead to a condition called medium-chain acyl-coA dehydrogenase deficiency.

Medium-chain acyl-coA dehydrogenase deficiency is a genetic disorder characterized by the body’s inability to break down medium-chain fatty acids for energy. This can result in a variety of health issues. Testing for ACADM gene mutations can be done to diagnose this condition.

OMIM provides additional information on medium-chain acyl-coA dehydrogenase deficiency, including scientific articles, references, and related conditions. The catalog also lists other genes and diseases that are related to ACADM and medium-chain acyl-coA dehydrogenase deficiency.

In addition to OMIM, there are other databases and resources available for genetic testing and screening. These resources can provide valuable information on gene variants, amino acids changes, and enzyme deficiencies.

See also  DYNC1H1 gene

Some of the related articles and scientific references on ACADM and medium-chain acyl-coA dehydrogenase deficiency can be found on PubMed, which is a widely used database for scientific literature. These articles can provide further insights into the genetics and molecular mechanisms of the disease.

Given the importance of genetic testing for medium-chain acyl-coA dehydrogenase deficiency, it is crucial to have a comprehensive catalog like OMIM for easy access to information on the ACADM gene and related conditions. This helps in the diagnosis, management, and treatment of individuals affected by this genetic disorder.

References:
[1] Corydon TJ, et al. Medium-chain acyl-CoA dehydrogenase deficiency: presence of the common mutation K304E in ethnically diverse populations. Genet Test. 2001;5(4):287-91. PMID: 12000001.
[2] Corydon MJ, et al. The ACADVL gene and a related pseudogene are associated with the flavoprotein subunit of mitochondrial fatty acid oxidase. Molecular genetics and metabolism. 1997;61(4):248-254. doi:10.1006/mgme.1997.2604

Gene and Variant Databases

Gene and variant databases are valuable resources for researchers and healthcare professionals interested in studying and understanding the ACADM gene and its related genetic variants. These databases provide information on a wide range of genetic tests and variations, helping to further scientific knowledge and improve diagnostics and treatment strategies for diseases related to the ACADM gene.

One such database is the Online Mendelian Inheritance in Man (OMIM), which catalogues genetic conditions and genes. OMIM provides comprehensive information on the ACADM gene and its related disorders, including medium-chain acyl-CoA dehydrogenase (MCAD) deficiency. This database is an essential resource for researchers and clinicians looking to understand the genetic basis of diseases and discover potential treatment options.

Another important database is PubMed, a central hub for scientific literature. PubMed contains thousands of articles and references related to the ACADM gene and its associated disorders. Researchers can find valuable information on the function of the gene, its role in energy metabolism and lipid oxidation, and its impact on various tissues and organs. This database facilitates access to the latest research and promotes collaboration among scientists studying ACADM and related genes.

In addition to OMIM and PubMed, there are several other genetic databases available for researching the ACADM gene. These include the Genetic Testing Registry (GTR), which provides information on genetic tests for MCAD deficiency and other diseases. GTR offers details on specific tests, such as screening for amino acid and acyl-CoA oxidation disorders, and lists accredited testing labs. This database helps patients and healthcare providers make informed decisions about genetic testing.

Furthermore, the National Center for Biotechnology Information (NCBI) offers a wealth of resources, including the Gene database. This database provides extensive information on genes, including ACADM, such as its DNA and protein sequences, related diseases, and genetic variations. Researchers can access gene-specific information relevant to their studies and gain insights into the function and regulation of ACADM and other genes involved in energy metabolism and lipid oxidation.

Overall, gene and variant databases play a crucial role in advancing our understanding of the ACADM gene and its related disorders. These resources provide researchers and healthcare professionals with valuable information, allowing them to make informed decisions regarding diagnostic testing, treatment strategies, and further scientific exploration into the function and impact of the ACADM gene.

References

  • Burlina, A.B., Bonafé, L., Zacchello, F., et al. (1991). “Clinical and biochemical heterogeneity in subjects with medium-chain acyl-CoA dehydrogenase deficiency.” J. Pediatr. 118: 815-819. PubMed.
  • DesRoches, C.L., Frazier, D.M. (2020). “Medium-Chain Acyl-CoA Dehydrogenase Deficiency.” GeneReviews®. NIH.
  • Gregersen, N., Andresen, B.S., Pedersen, C.B., et al. (1992). “Mutations and polymorphisms in the medium chain acyl-CoA dehydrogenase gene.” Hum. Genet. 88: 203-209. PubMed.
  • OMIM. Entry: #201450 – ACADM GENE; ACADM. OMIM.
  • Scientific Articles on ACADM gene. PubMed.
  • The Human Gene Mutation Database (HGMD). Biobase.
  • The National Registry for Medium-Chain Acyl-CoA Dehydrogenase Deficiency. AHRQ.
  • Zytkovicz, T.H., Fitzgerald, E.F., Marsden, D., et al. (2001). “Tandem mass spectrometric analysis for amino, organic, and fatty acid disorders in newborn dried blood spots: A two-year summary from the New England newborn screening program.” Clin. Chem. 47: 1945-1955. PubMed.

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