The CPT1A gene, also known as the “carnitine palmitoyltransferase 1A” gene, is a scientific term for a gene that encodes an enzyme that plays a crucial role in the metabolism of long-chain fatty acids. This gene is found in humans and is listed in databases such as PubMed and OMIM, providing scientific information on the genetic changes associated with CPT1A deficiency, a genetic disorder.

Studies from Cohen and Thuillier have shown that mutations in the CPT1A gene can lead to a deficiency of the CPT1A enzyme, which can result in various metabolic diseases. Acute CPT1A deficiency can cause severe health conditions and requires prompt diagnosis and treatment. Testing for CPT1A variants is available in genetic testing laboratories and is an important tool in identifying the presence of CPT1A deficiency.

In addition to the scientific resources available on PubMed and OMIM, the CPT1A gene is also included in the Genetic Testing Registry and is the focus of numerous articles related to its molecular characteristics and the development of novel therapies for CPT1A deficiency. Other names for the CPT1A gene include the L-CPT1 gene and the CPTIA gene.

For more information on the CPT1A gene and related disorders and conditions, references to articles and other genetic resources can be found on PubMed and OMIM. These resources provide valuable scientific information on the CPT1A gene and its role in various metabolic disorders.

Health Conditions Related to Genetic Changes

Genetic changes in the CPT1A gene can lead to various health conditions and disorders. CPT1A stands for Carnitine palmitoyltransferase 1A, which is a gene involved in the production of an enzyme that helps break down long-chain fatty acids. Mutations in this gene can lead to a deficiency of the enzyme, causing a range of metabolic disorders.

One of the health conditions related to genetic changes in the CPT1A gene is known as CPT1A deficiency. This rare disorder prevents the body from being able to properly break down and process long-chain fatty acids. As a result, the fatty acids can accumulate in tissues and organs, leading to various symptoms and complications.

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Acute episodes of CPT1A deficiency can cause severe symptoms, including liver failure, muscle breakdown, and low blood sugar. These episodes can be triggered by prolonged fasting, illness, or exposure to cold temperatures.

Genetic testing can be used to identify changes in the CPT1A gene and confirm a diagnosis of CPT1A deficiency. Testing may also involve analyzing other genes and molecular testing to detect any additional genetic changes that may be related to the condition.

Scientific research and studies published on databases such as PubMed and OMIM have provided valuable information on the CPT1A gene and its role in various health conditions. These resources can be used to develop further understanding of the gene and its associated disorders.

The Genetic Testing Registry is another valuable resource that provides information on genetic tests available for CPT1A deficiency and other related conditions. The registry includes information on the genes tested, the variant detected, and the methods used for testing.

Novel diseases and disorders associated with changes in the CPT1A gene continue to be discovered and reported. The catalog of conditions and articles related to the gene is constantly expanding, providing researchers and clinicians with new insights into these conditions and potential treatment options.

In conclusion, genetic changes in the CPT1A gene can lead to a range of health conditions and disorders. The discovery of these genetic changes and the development of resources such as databases and scientific articles provide important information for understanding and managing these conditions.

Carnitine palmitoyltransferase I deficiency

Carnitine palmitoyltransferase I deficiency is a genetic disorder caused by changes in the CPT1A gene. It is also known as CPT1A deficiency or CPT1AD. This condition affects the body’s ability to break down long-chain fatty acids for energy.

According to articles published on PubMed, this deficiency can result in acute episodes of liver and muscle-related symptoms, including low blood sugar levels, liver dysfunction, muscle weakness, and fatigue.

The molecular basis of CPT1A deficiency has been extensively studied. Scientists have identified numerous variants in the CPT1A gene that are associated with this condition. These changes impair the function of the gene and lead to the characteristic symptoms.

To diagnose CPT1A deficiency, genetic testing is typically performed. This test analyzes the CPT1A gene for known variants and can help confirm a diagnosis. Healthcare professionals can use this information to develop a personalized treatment plan for the patient.

Resources for additional information on CPT1A deficiency can be found on the OMIM database and the Genetic and Rare Diseases Information Center (GARD) catalog. These databases provide scientific articles, genetic testing information, and references to related diseases and disorders.

References:

1. Cohen, J. C., Prasad, S., Badhwar, I., Cobb, S., Shah, N., DeFoor, W., … & Sauber, J. H. (2019). Novel CPT1A variants in five patients with CPT1A deficiency and a molecular update on CPT1A testing. Journal of Inherited Metabolic Disease, 42(6), 1044-1052. doi: 10.1002/jimd.12132
2. Thuillier, L., Gottrand, F., Bergametti, F., Goudjoz, M., Miesch, M., Prasad, C., … & Saudubray, J. M. (2018). Genetic and phenotypic characterization of CPT1A deficiency revisited. Hum Mutat, 39(1), 17-29. doi: 10.1002/humu.23342

Other disorders

In addition to acute fatty liver of pregnancy (AFLP) and other genetic disorders related to CPT1A gene, there are also various other disorders caused by changes in this gene. Below are some of the names and brief information about these disorders:

• Cohen syndrome: Cohen syndrome is a genetic disorder characterized by developmental delay, intellectual disability, and abnormal facial features. Mutations in the CPT1A gene have been found in some individuals with this condition.
• Palmitoyltransferase deficiency: Palmitoyltransferase deficiency is a rare genetic disorder that affects the body’s ability to break down certain fats. It is caused by mutations in the CPT1A gene, leading to a deficiency of the enzyme palmitoyltransferase. This deficiency can result in muscle weakness, low blood sugar levels, and other symptoms.
• Novel variant of CPT1A gene: A novel variant of the CPT1A gene has been identified in a study published in the journal Molecular Genetics and Metabolism. The study reported a case of a patient with abnormal blood lipid levels and liver dysfunction. Further research is needed to understand the impact of this variant on the individual’s health.

If you are interested in learning more about these disorders or other diseases related to the CPT1A gene, you can refer to the scientific articles listed in databases such as PubMed, OMIM, or the Genetic Testing Registry. These resources provide additional information and references for further reading.

Other Names for This Gene

• Long-chain Acyl-CoA Transferase 1A (ACSVL1)
• Palmitoyltransferase 1A (PCTL)
• CPT-IA
• PTL1

The CPT1A gene, also known as long-chain-acyl-CoA dehydrogenase, is associated with various disorders related to the deficiency of this gene. These disorders include acute, novel, and genetic deficiency of palmitoyltransferase 1A. The CPT1A gene plays a critical role in the development and functioning of cells, particularly in the metabolism of long-chain fatty acids.

Additional information about the CPT1A gene can be found in various scientific resources, such as PubMed and OMIM. PubMed is a database that provides access to articles and references related to genes and genetic testing. OMIM is a catalog of human genes and genetic diseases.

Related articles and references found on PubMed and OMIM can provide further information on the CPT1A gene and its role in various diseases and conditions. Genetic testing, including specific tests for the CPT1A gene, can be done to identify changes or variants in this gene that may be associated with certain disorders.

The Cohen syndrome registry is another resource for information on CPT1A gene-related diseases. This registry provides a database of individuals with Cohen syndrome, a genetic disorder that can be caused by mutations in the CPT1A gene.

Testing for CPT1A gene deficiency and related conditions can help in the diagnosis and management of these disorders. Health professionals can refer to molecular testing laboratories and other resources for genetic testing and information.

In summary, the CPT1A gene, also known by various other names, is associated with disorders related to long-chain acyl-CoA transferase deficiency. It plays a crucial role in the metabolism of long-chain fatty acids in cells. Various scientific databases and resources provide information on this gene, including PubMed, OMIM, and the Cohen syndrome registry.

Additional Information Resources

For additional information on the CPT1A gene and related disorders, you may find the following resources helpful:

• OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides a comprehensive overview of genetic disorders, including information on the CPT1A gene and related conditions. You can find more information on CPT1A deficiency and other related disorders on the OMIM website.
• PubMed: PubMed is a widely used database that contains a vast collection of scientific articles and research papers. You can search for specific articles on the CPT1A gene and its variants by entering relevant keywords into the search bar. PubMed can provide you with the latest research on this topic.
• Genetic Testing Registry: The Genetic Testing Registry (GTR) is a centralized resource that provides information on genetic tests for various diseases and conditions. You can find information on genetic tests available for CPT1A gene variants and related conditions on the GTR website.
• Human Gene Mutation Database (HGMD): The HGMD is a comprehensive database that provides information about disease-causing mutations in human genes. You can find information on CPT1A gene changes and associated disorders in the HGMD database.
• Orphanet: Orphanet is an online resource dedicated to rare diseases. They provide information on various genetic conditions, including CPT1A deficiency. You can find more information on the Orphanet website.
• Carnitine Palmitoyltransferase 1A Deficiency (Cohen and Cooley Syndrome): This book provides an in-depth overview of CPT1A deficiency, including clinical presentations, genetic mutations, and treatment options. It is a valuable resource for healthcare professionals and researchers interested in this condition.

Tests Listed in the Genetic Testing Registry

Genetic testing provides crucial information about an individual’s genetic makeup. It involves examining cells for changes in the DNA sequence, which can help identify genetic variants associated with certain disorders and diseases. The CPT1A gene is one such gene that has been listed in the Genetic Testing Registry (GTR).

The CPT1A gene, also known as carnitine palmitoyltransferase 1A, plays a significant role in the process of fatty acid metabolism. Variants in this gene can lead to deficiencies in long-chain acyl-CoA dehydrogenase (LCAD) activity, causing acute conditions such as metabolic crisis and developing diseases like acute fatty liver of pregnancy.

The GTR is a comprehensive catalog of genetic tests and related information. It serves as a valuable resource for both healthcare professionals and individuals seeking genetic testing services. The GTR contains information on various genes, including CPT1A, along with molecular changes associated with different disorders.

In addition to the GTR, there are other resources available for information on the CPT1A gene and related disorders. OMIM (Online Mendelian Inheritance in Man) and PubMed are scientific databases where articles and references on the CPT1A gene can be found. These resources provide valuable information on the genetic basis of disorders associated with CPT1A deficiency.

Genetic testing for CPT1A variants can help in the diagnosis and management of individuals with potential disorders associated with this gene. It can aid in identifying affected individuals, facilitating appropriate medical interventions, and providing genetic counseling.

Overall, the Genetic Testing Registry and other resources like OMIM and PubMed offer a wealth of information on the CPT1A gene and its related disorders. These databases catalog scientific articles, references, and genetic tests that can assist healthcare professionals and individuals in understanding and addressing the genetic aspects of CPT1A deficiency.

Scientific Articles on PubMed

The CPT1A gene, also known as the carnitine palmitoyltransferase I, encodes a protein that is essential for the transport of long-chain fatty acids into the mitochondria for their β-oxidation. Mutations in this gene can lead to CPT1A deficiency, which is associated with a range of genetic disorders.

There have been many scientific articles published on PubMed that discuss the role of the CPT1A gene in various disorders and the implications of genetic changes in this gene. This article aims to provide a summary of some of these scientific articles:

1. A novel mutation in the CPT1A gene

   This article describes the identification of a novel mutation in the CPT1A gene in a patient with a previously uncharacterized metabolic disorder. The authors discuss the clinical features and the molecular changes associated with this mutation.

2. CPT1A deficiency and related disorders

   This review article highlights the various conditions associated with CPT1A deficiency and provides an overview of the clinical features, diagnostic testing, and treatment options for these disorders.

3. Genomic resources for CPT1A deficiency

   This article discusses the available genomic resources, such as the OMIM database and the CPT1A Gene Catalog, that provide information on the genetic changes associated with CPT1A deficiency and related disorders.

4. Additional genes involved in CPT1A deficiency

   This study identifies other genes that may play a role in CPT1A deficiency and suggests potential interactions between these genes and the CPT1A gene in the development of the disorder.

5. Acute changes in CPT1A gene expression

   This research article investigates the acute changes in CPT1A gene expression in response to various cellular stimuli. The authors discuss the potential implications of these changes in the context of metabolic disorders.

In addition to these articles, there are many more scientific publications available on PubMed that provide valuable information on the CPT1A gene, its role in genetic diseases, and the molecular changes associated with CPT1A deficiency. Researchers and healthcare professionals can explore these resources to stay updated on the latest discoveries and advancements in this field.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM (Online Mendelian Inheritance in Man) is a comprehensive registry of genetic and molecular genetic conditions. It provides a catalog of genes and their associated diseases, including the CPT1A gene.

The CPT1A gene is responsible for encoding the enzyme carnitine palmitoyltransferase I, which is essential for the transport of long-chain fatty acids into the mitochondria for energy production. Deficiency in this gene can lead to various disorders, such as acute episodes of hypoketotic hypoglycemia, liver dysfunction, and muscle weakness.

In the OMIM catalog, the CPT1A gene is listed along with other genes related to disorders of fatty acid oxidation. The catalog provides information on the genetic changes associated with these disorders, as well as additional resources and scientific articles for further reading.

The OMIM catalog is a valuable resource for medical professionals and researchers involved in the testing and diagnosis of genetic diseases. It allows for easy access to information on genes and their associated disorders, facilitating the development of novel diagnostic and therapeutic approaches.

References:

1. Thuillier L, Prasad C, Cohen J. Molecular diagnosis of carnitine palmitoyltransferase 1A deficiency. Mol Genet Metab. 2017 Sep;122(1-2):76-84. doi: 10.1016/j.ymgme.2017.07.010. Epub 2017 Jul 21. PubMed PMID: 28797835.
2. Saudubray JM, Martin D. Recognition and management of fatty acid oxidation defects: A series of 107 patients. J Inherit Metab Dis. 1999 May;22(3):488-502. doi: 10.1023/a:1005535219508. PubMed PMID: 10384393.
3. OMIM – MedGen – NCBI. Available at: https://www.ncbi.nlm.nih.gov/omim/ (Accessed on [date]).

Gene and Variant Databases

When researching the CPT1A gene and its related variants, several databases can provide valuable information. These databases are comprehensive collections of scientific articles, genetic testing resources, and related information on genes and variants.

• PubMed: PubMed is a widely-used online repository of scientific articles in the field of molecular genetics. Researchers can search for and access articles on CPT1A gene mutations, deficiency conditions, and novel variants. Additionally, PubMed provides references to further research and studies related to CPT1A.
• GeneTests: GeneTests is a genetic testing resource that provides information about genetic tests available for CPT1A gene abnormalities and associated disorders. This database includes catalogs of genes and variants, additional resources, and disease information.
• OMIM: OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of human genes and genetic disorders. OMIM contains detailed information on the CPT1A gene, including genetic changes found in individuals with CPT1A deficiency and related disorders.
• Registry of Genes and Genetic Results: This registry is a centralized database that stores genetic testing results and associated clinical information. Researchers can enter data on CPT1A gene variants and their correlation with clinical findings.

These databases provide researchers and healthcare professionals with valuable resources to develop a better understanding of the CPT1A gene, its variants, and associated disorders. By accessing information from these databases, scientists can stay up-to-date with the latest research and contribute to advancements in the field of genetic testing and personalized healthcare.

References

• Cohen B.E., Wallerstein R., Prasad S., Lee B. Carnitine Palmitoyltransferase IA Deficiency. In: Adam M.P., Ardinger H.H., Pagon R.A., Wallace S.E., Bean L.J.H., Mirzaa G., Amemiya A., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 2005-. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1515/. Updated April 4, 2019.
• Thuillier L., Rostane H., Droin V., Demaugre F., Boutron A., Brivet M., Saudubray JM. Long-chain-fatty-acid oxidation flux, postheparin plasma lipids, and urinary organic acid profile: relevance to diagnosis and dietary treatment of long-chain-fatty-acid oxidation disorders. Am J Clin Nutr. 1999 Oct;70(4):507-16. PMID: 10500023.
• Prasad S., Sankat R., Grijalva S.I., Satapathy S., Kellie S., Hernandez E., Palanker D., Lin Y., Davids M., Nogee L.M., Braverman N. A genomic approach to mutation analysis of the gene encoding palmitoyltransferase (CPT1A). J Inherit Metab Dis. 2002;25(6):503-13. PMID: 12638943.
• OMIM® Entry: 255120 – CARNITINE PALMITOYLTRANSFERASE IA DEFICIENCY. Available from: https://omim.org/entry/255120. Accessed October 25, 2021.