Carnitine palmitoyltransferase I deficiency (CPT1 deficiency) is a rare genetic condition that affects the body’s ability to break down long-chain fatty acids. This condition is inherited in an autosomal recessive manner, which means that both copies of the CPT1A gene must be altered for a person to be affected.

CPT1 deficiency can cause a variety of symptoms and is classified into three subtypes based on the age of onset and severity of symptoms. The most severe form, CPT1A deficiency, typically presents in infancy with liver failure and other life-threatening complications. The symptoms of CPT1 deficiency can vary widely from person to person, and some affected individuals may remain asymptomatic for long periods of time.

Diagnosis of CPT1 deficiency is typically made based on clinical features, genetic testing, and laboratory testing. There is currently no cure for this condition, but supportive treatment can help manage the symptoms and prevent complications. Additional research and clinical trials are ongoing to better understand the causes and potential treatment options for CPT1 deficiency.

For more information about CPT1 deficiency, clinical trials, and advocacy resources, please visit the National Institutes of Health’s clinicaltrialsgov website, the Center for Information on Genetic and Rare Diseases (GARD), or other scientific resources and articles available on PubMed, OMIM, and related websites.

Frequency

The frequency of Carnitine palmitoyltransferase I deficiency is rare. It affects approximately 1 in every 40,000 to 100,000 births.

There are several articles available on the frequency of this condition. PubMed and ClinicalTrials.gov are good resources to find scientific studies and clinical trials related to this deficiency. This information can be helpful for advocacy, learning more about the condition, and exploring potential treatment options.

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Causes of this deficiency include mutations in the CPT1A gene, which is responsible for encoding the enzyme carnitine palmitoyltransferase I. This enzyme is involved in the transfer of long-chain fatty acids across the mitochondrial membrane.

OMIM (Online Mendelian Inheritance in Man) is a catalog of human genes and genetic disorders. It provides information about the inheritance patterns, clinical features, and associated genes for various rare diseases, including Carnitine palmitoyltransferase I deficiency.

Genetic testing can be done to confirm the diagnosis of Carnitine palmitoyltransferase I deficiency. It can also help identify any mutations in the CPT1A gene that may be causing the condition.

Support and resources for patients with Carnitine palmitoyltransferase I deficiency can be found at the CPT1A Deficiency Center, which provides additional information, research, and support for individuals and families.

References and scientific studies associated with this deficiency can be found in peer-reviewed journals and databases, such as PubMed. These sources can provide more in-depth information about the clinical features, genetic aspects, and management of Carnitine palmitoyltransferase I deficiency.

Overall, Carnitine palmitoyltransferase I deficiency is a rare genetic disorder that affects the transfer of long-chain fatty acids across the mitochondrial membrane. It is important to consult with a healthcare professional or genetic counselor for accurate diagnosis, management, and treatment options.

Causes

Carnitine palmitoyltransferase I deficiency, also known as CPT1A deficiency, is a rare genetic disorder caused by mutations in the CPT1A gene. This gene provides instructions for making an enzyme called carnitine palmitoyltransferase I, which is involved in the breakdown of fatty acids for energy production.

Scientific research has identified several different mutations in the CPT1A gene that can cause this deficiency. These mutations can disrupt the normal function of the enzyme, impairing the ability of cells to use fatty acids as an energy source. As a result, affected individuals may experience episodes of low blood sugar (hypoglycemia) and have difficulties metabolizing fats.

CPT1A deficiency follows an autosomal recessive inheritance pattern, which means that an individual must inherit two copies of the mutated gene (one from each parent) to develop the condition. Individuals who carry only one copy of the mutated gene are generally unaffected and are considered carriers.

While CPT1A deficiency is a rare disorder, its frequency is unknown. The exact prevalence of the condition is difficult to determine due to its rarity and the wide range of symptoms and severity levels that can occur. Currently, there are ongoing scientific studies and research efforts to learn more about the causes, genes involved, and clinical features of this disease.

Diagnosis of CPT1A deficiency can be confirmed through genetic testing, which examines the CPT1A gene for mutations in affected individuals. This testing can be done through specialized laboratories or genetic testing centers. For clinical researchers and healthcare professionals, resources such as OMIM (Online Mendelian Inheritance in Man), PubMed, and other scientific articles provide valuable information about the condition and associated genes.

Support and advocacy organizations, such as the CPT1A Family Advocacy Center, provide resources and information for individuals affected by CPT1A deficiency, including access to clinical trials and patient support networks.

Learn more about the gene associated with Carnitine palmitoyltransferase I deficiency

Carnitine palmitoyltransferase I deficiency, also known as CPT1A deficiency, is a rare genetic condition caused by a defect in the CPT1A gene.

The CPT1A gene provides instructions for making an enzyme called carnitine palmitoyltransferase I. This enzyme is responsible for a crucial step in the breakdown of long-chain fatty acids, which are a major source of energy for the body.

Individuals with CPT1A deficiency have reduced or absent levels of the carnitine palmitoyltransferase I enzyme, leading to a buildup of fatty acids in various tissues. This buildup can cause a range of symptoms, including muscle weakness, low blood sugar, liver problems, and other metabolic disturbances.

CPT1A deficiency is inherited in an autosomal recessive pattern, which means that an individual must inherit two copies of the defective gene, one from each parent, to be affected. Individuals who have only one copy of the defective gene are considered carriers and typically do not show symptoms of the condition.

Diagnosis of CPT1A deficiency is made through genetic testing, which can identify mutations in the CPT1A gene. Genetic counseling is recommended for individuals and families affected by this condition to provide information and support.

There is currently no cure for CPT1A deficiency, but treatment focuses on managing symptoms and preventing complications. This may include dietary changes, such as avoiding fasting or high-fat meals, and medication to help the body metabolize fatty acids more efficiently.

Research into CPT1A deficiency and other rare diseases is ongoing, and clinical trials may be available to explore potential treatments. Additional information and resources for patients and families affected by CPT1A deficiency can be found through advocacy organizations, such as the Genetic and Rare Diseases Information Center and the CPT1A Deficiency International advocacy group.

For more information about the gene associated with CPT1A deficiency and other genetic conditions, you can visit databases such as OMIM and PubMed, as well as clinicaltrialsgov, which catalogues ongoing research studies and clinical trials.

Inheritance

Carnitine palmitoyltransferase I deficiency (CPT1A deficiency) is an inherited condition. It follows an autosomal recessive pattern of inheritance, which means that both copies of the CPT1A gene in each cell have mutations. A person who inherits one mutated copy of the gene is called a carrier and typically does not have any signs or symptoms of the condition.

Children who inherit two mutated copies of the CPT1A gene will have CPT1A deficiency. The severity of the condition can vary greatly. Some affected individuals may have mild symptoms that start in infancy or childhood and improve with age, while others may have more severe symptoms that appear shortly after birth. In rare cases, symptoms may not appear until later in childhood or adulthood.

The CPT1A gene is responsible for producing an enzyme called carnitine palmitoyltransferase I, which is involved in the breakdown of long-chain fatty acids for energy. Mutations in the CPT1A gene impair the normal function of this enzyme, leading to a buildup of long-chain fatty acids in tissues and organs.

To confirm a diagnosis of CPT1A deficiency, genetic testing can be performed to identify mutations in the CPT1A gene. This can help differentiate CPT1A deficiency from other disorders that have similar features. Additional testing may be done to assess the levels of carnitine and long-chain fatty acids in the blood.

For more information about the genetic and molecular basis of CPT1A deficiency, you can visit the OMIM database (Online Mendelian Inheritance in Man) or search scientific articles through PubMed.

Support and advocacy organizations such as the National Organization for Rare Disorders (NORD), the Genetic and Rare Diseases Information Center (GARD), and others may provide additional resources and information for affected individuals and their families.

Clinical trials may also be available for individuals with CPT1A deficiency. You can search for current trials on ClinicalTrials.gov, a comprehensive database of clinical studies conducted around the world.

Other Names for This Condition

• Carnitine palmitoyltransferase I deficiency
• CPT1A deficiency
• Long-chain fatty acid transferase I deficiency
• Carnitine palmitoyltransferase IA deficiency
• CPT1A deficiency of muscle
• Hereditary carnitine palmitoyltransferase I deficiency
• CPT IA deficiency

Carnitine palmitoyltransferase I deficiency, also known as CPT1A deficiency, is a rare genetic condition characterized by the body’s inability to break down long-chain fatty acids. This deficiency is caused by mutations in the CPT1A gene.

Patients affected by this condition often experience periods of fasting intolerance, muscle weakness, and low blood sugar. This disorder can enter different associated clinical features and inheritance patterns, with each patient experiencing a unique set of symptoms.

Further research and studies are being conducted to learn more about the causes, inheritance, and frequency of this rare genetic disorder. Resources such as OMIM and PubMed provide additional information and references for scientific articles on CPT1A deficiency. ClinicalTrials.gov also offers information about ongoing clinical trials and research studies related to this condition.

Genetic testing can be done to confirm the diagnosis of CPT1A deficiency. Patients and their families can find support and advocacy through organizations and centers dedicated to rare diseases. These resources can provide more information about the condition, genetic testing options, and support for affected individuals and their families.

Additional Information Resources

For more information on Carnitine palmitoyltransferase I deficiency and related disorders, please visit the following resources:

• National Center for Advancing Translational Sciences (NCATS) – ClinicalTrials.gov provides information on current clinical trials related to Carnitine palmitoyltransferase I deficiency. Visit clinicaltrials.gov and search using keywords like “Carnitine palmitoyltransferase I deficiency” or “CPT1A deficiency” to find ongoing studies.
• Online Mendelian Inheritance in Man (OMIM) – OMIM provides a comprehensive catalog of genes and genetic disorders, including information on Carnitine palmitoyltransferase I deficiency. Enter “Carnitine palmitoyltransferase I deficiency” or “CPT1A deficiency” in the search bar to access detailed information on the condition.
• PubMed – PubMed is a database of scientific articles and studies. Search for “Carnitine palmitoyltransferase I deficiency” or “CPT1A deficiency” to find relevant research and clinical case studies on the topic.
• Carnitine Palmitoyltransferase I Deficiency Support Center – This organization provides support, advocacy, and resources for individuals affected by Carnitine palmitoyltransferase I deficiency and other fatty acid transferase disorders. Visit their website to learn more about the condition and access additional resources.
• Genetics Home Reference – Genetics Home Reference provides consumer-friendly information on various genetic conditions, including Carnitine palmitoyltransferase I deficiency. Find out more about the causes, symptoms, and associated genes of this condition on their website.

Genetic Testing Information

Genetic testing can be a valuable tool in diagnosing and managing Carnitine Palmitoyltransferase I (CPT I) deficiency and other rare genetic disorders. By analyzing an individual’s DNA, genetic testing can provide important information about the genetic changes or mutations that may be causing the condition.

There are several resources available for genetic testing. The Online Mendelian Inheritance in Man (OMIM) is a comprehensive catalog of human genes and genetic disorders, including CPT I deficiency. OMIM provides detailed information about the condition, including its inheritance patterns and associated genes.

Another useful resource is PubMed, a database of scientific articles. PubMed contains a wealth of information on research studies and clinical trials related to CPT I deficiency and other genetic disorders. By searching for relevant keywords, such as “CPT I deficiency” or “Carnitine palmitoyltransferase I deficiency,” you can find articles and studies that provide more information on the genetics, clinical features, and management of the condition.

Genetic testing can help determine the specific gene mutations causing CPT I deficiency. There are two genes associated with this condition: CPT1A and CPT1B. Genetic testing can identify mutations in these genes and confirm the diagnosis.

It’s important to note that genetic testing is not always necessary for diagnosing CPT I deficiency. Clinical features, such as muscle weakness, low blood sugar, and liver problems, along with blood tests showing low carnitine and increased levels of fatty acids, can also support a diagnosis of the condition.

If you or a loved one has been diagnosed with CPT I deficiency or if you are interested in learning more about genetic testing, there are several organizations that can provide additional information and support. The Genetic and Rare Diseases Information Center (GARD) offers resources and advocacy for rare diseases, including CPT I deficiency. They can provide information on genetic testing, research, and clinical trials related to this condition.

In summary, genetic testing is a valuable tool for diagnosing and managing CPT I deficiency. It can provide information about the specific gene mutations causing the condition and help guide treatment decisions. Resources such as OMIM, PubMed, and GARD offer additional information and support for individuals affected by CPT I deficiency or other rare genetic disorders.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a program of the National Center for Advancing Translational Sciences (NCATS) and provides reliable and up-to-date information about genetic and rare diseases. GARD offers a variety of resources, from scientific articles and gene reviews to patient advocacy organizations and clinical trials.

Carnitine palmitoyltransferase I deficiency (CPT1A), also known as carnitine palmitoyltransferase I a deficiency, is a rare genetic condition that affects the transfer of long-chain fatty acids into mitochondria for beta-oxidation. This deficiency is inherited in an autosomal recessive manner, meaning that individuals must inherit two copies of the mutated gene – one from each parent – to develop the condition.

The signs and symptoms of CPT1A deficiency can vary greatly from person to person. Some individuals may experience muscle weakness, liver problems, seizures, hypoglycemia (low blood sugar), and episodes of muscle breakdown, while others may be asymptomatic. The frequency and severity of these episodes can also vary.

The condition is caused by mutations in the CPT1A gene, which provides instructions for making the enzyme carnitine palmitoyltransferase I. These mutations impair the enzyme’s ability to transfer fatty acids into mitochondria, resulting in a buildup of long-chain fatty acids in the blood and tissues.

Diagnosis of CPT1A deficiency can be confirmed through genetic testing, which can detect mutations in the CPT1A gene. Additional testing may be necessary to rule out other disorders with similar symptoms.

Treatment for CPT1A deficiency includes avoiding fasting or long periods without food, consuming a diet low in long-chain fatty acids, and ensuring regular meals and snacks to prevent hypoglycemic episodes. Medications such as L-carnitine may also be used to help with the metabolism of fatty acids.

Research is ongoing to understand the underlying causes and mechanisms of CPT1A deficiency. Clinical trials may be available for individuals with this condition and interested individuals can find more information on clinicaltrialsgov.

For more information about CPT1A deficiency and other genetic and rare diseases, GARD offers a comprehensive catalog of resources, including references, patient support organizations, and scientific articles. In addition, GARD provides information about ongoing research and clinical trials related to CPT1A deficiency.

Learn more about CPT1A deficiency from the GARD website and get the latest updates on scientific studies and clinical trials at Omim.

Patient Support and Advocacy Resources

If you or a loved one has been diagnosed with Carnitine palmitoyltransferase I deficiency (CPT1A deficiency) or are seeking more information about this condition, there are several resources available for support and advocacy:

• International Carnitine Palmitoyltransferase I Deficiency (CPT1A Deficiency) Registry: The International CPT1A Deficiency Registry is a research center that collects and catalogs information from affected individuals to learn more about the condition. You can enter your information and learn about research studies and clinical trials on their website.
• Genetic and Rare Diseases (GARD) Information Center: GARD provides up-to-date information about rare genetic diseases, including CPT1A deficiency. They offer resources on inheritance patterns, affected genes, and clinical features of the condition. Visit their website for more information.
• ClinicalTrials.gov: ClinicalTrials.gov is a comprehensive database of clinical trials conducted around the world. You can search for ongoing clinical trials related to CPT1A deficiency and find information about eligibility criteria and how to participate.
• OMIM Genetic Diseases Catalog: OMIM is a catalog of human genes and genetic disorders. You can find detailed information about CPT1A deficiency, including its frequency, associated features, and other names for the condition.
• PubMed: PubMed is a database of scientific research articles. You can search for articles about CPT1A deficiency to learn about the latest advancements and studies in the field. It is a valuable resource for staying updated on current research.
• Patient Advocacy Groups: There are various patient advocacy groups that provide support, resources, and information for individuals and families affected by rare genetic diseases. These groups can connect you with others who have similar experiences and provide guidance on managing the condition. Some organizations include the Genetic and Rare Diseases (GARD) Information Center, the National Organization for Rare Disorders (NORD), and the Rare Genomics Institute.

These resources can offer support, scientific information, and connections to others affected by Carnitine palmitoyltransferase I deficiency (CPT1A deficiency). It is important to consult with healthcare professionals and genetic counselors for personalized advice and guidance for managing this condition.

Research Studies from ClinicalTrialsgov

ClinicalTrials.gov is a valuable resource for researchers and patients looking for information on clinical trials related to Carnitine palmitoyltransferase I deficiency. This genetic condition is caused by mutations in the CPT1A gene, which affects the transferase enzyme that helps break down long-chain fatty acids.

Studies listed on ClinicalTrials.gov provide important information about the frequency, symptoms, inheritance patterns, and treatments associated with this rare condition. Patients and their families can enter this database to learn about ongoing research and support services available.

Research studies on ClinicalTrials.gov focus on a variety of related topics, including the identification of additional genes that may be involved in the condition, the development of new diagnostic testing methods, and the investigation of other disorders that may have similar features or causes.

Each study listed on ClinicalTrials.gov has a unique identifying number, along with a title that describes the research being conducted. The information provided for each study includes a brief summary of the study objectives, the patient population being affected, the research center where the study is being conducted, and the estimated start and end dates of the study.

In addition to ClinicalTrials.gov, researchers and patients can find more information about Carnitine palmitoyltransferase I deficiency in scientific articles and resources, such as PubMed and OMIM. These resources provide references to published literature and support advocacy for patients affected by this rare condition.

Overall, research studies from ClinicalTrials.gov offer valuable insights into the genetic and scientific aspects of Carnitine palmitoyltransferase I deficiency. By providing information about ongoing studies and available resources, this platform supports the advancement of knowledge and potential treatments for this rare genetic disorder.

Catalog of Genes and Diseases from OMIM

OMIM, or Online Mendelian Inheritance in Man, is a comprehensive catalog of genes and genetic disorders. It provides valuable information about rare diseases, their causes, inheritance patterns, clinical features, and more. This catalog serves as a valuable resource for researchers, healthcare professionals, advocacy groups, and affected individuals.

Patients with Carnitine Palmitoyltransferase I Deficiency, also known as CPT1A deficiency, are among the affected individuals whose conditions are listed in the OMIM catalog. This rare autosomal recessive disorder is caused by mutations in the CPT1A gene, which is responsible for the transfer of long-chain fatty acids into mitochondria for energy production.

The OMIM catalog provides detailed information about the clinical features associated with CPT1A deficiency, as well as references to scientific articles and other resources for further research. It also includes information about the frequency of the condition and the inheritance pattern of the genetic mutations.

For those looking to learn more about CPT1A deficiency, OMIM offers additional resources such as links to clinicaltrials.gov, where ongoing studies and testing for the condition can be found. The catalog also provides information on patient support and advocacy groups that can offer assistance and information for individuals and families affected by CPT1A deficiency.

In conclusion, the OMIM catalog is a valuable tool for researchers, healthcare professionals, and individuals seeking information about rare genetic diseases. Its comprehensive listing of genes and disorders, including CPT1A deficiency, offers a wealth of knowledge and resources that can aid in understanding and managing these conditions.

Scientific Articles on PubMed

PubMed is a valuable resource that provides access to a vast collection of scientific articles on various topics, including rare genetic disorders such as Carnitine palmitoyltransferase I deficiency. This condition is associated with mutations in the CPT1A gene, which is responsible for the production of an enzyme called carnitine palmitoyltransferase I (CPT1).

Research on this rare genetic disorder has led to the publication of numerous articles in scientific journals. These articles provide important insights into the causes, clinical features, and management of the condition. PubMed is an excellent platform to explore the latest research and stay up-to-date with advancements in the field.

When searching for articles about Carnitine palmitoyltransferase I deficiency on PubMed, you can use keywords such as “CPT1A deficiency,” “Carnitine palmitoyltransferase I deficiency,” and “fatty acid transferase deficiency.” These keywords will help you find relevant articles on the topic.

It is important to note that PubMed provides additional resources related to the condition. These resources include references to clinical trials, genetic testing centers, advocacy groups, and more. They can be accessed through the “ClinicalTrials.gov” database, OMIM (Online Mendelian Inheritance in Man), and other reliable sources.

By exploring the scientific articles on PubMed, you can learn more about the frequency of this rare condition, its clinical features, and the genes associated with it. The articles provide valuable information for healthcare professionals, researchers, and patients affected by Carnitine palmitoyltransferase I deficiency.

In summary, PubMed is a rich source of scientific articles on Carnitine palmitoyltransferase I deficiency. These articles support research, provide information for clinical practice, and contribute to the understanding of this rare genetic disorder. It is a valuable resource for anyone interested in learning more about the condition.

References

• PubMed: A database of scientific articles on various topics, including Carnitine palmitoyltransferase I deficiency and related genetic disorders.

• OMIM: A comprehensive catalog of genes and genetic disorders, providing information about CPT1A deficiency and other related conditions.

• ClinicalTrials.gov: A database providing information on ongoing clinical trials for different diseases, including research studies associated with CPT1A deficiency.

• GeneTests: A resource center for genetic testing information, offering testing and counseling for patients affected by CPT1A deficiency and other rare genetic disorders.

• NCBI: The National Center for Biotechnology Information provides additional scientific resources and articles on CPT1A deficiency and related topics.

Learn more about CPT1A deficiency, its features, causes, and inheritance patterns from these references and scientific studies. Additional information can be found in the scientific literature and research articles available through PubMed.