Primary carnitine deficiency

Primary carnitine deficiency is a rare genetic condition associated with problems in the uptake and transport of carnitine, a protein that helps transport fatty acids into the mitochondria, the energy-producing centers of cells. This condition is caused by a defect in the SLC22A5 gene, also known as the OCTN2 gene.

Patients with primary carnitine deficiency have low levels of carnitine in their blood, which can lead to a variety of symptoms and health issues. Newborns with this condition may experience feeding difficulties, weak muscle tone, low blood sugar, and cardiomyopathy. In older children and adults, symptoms can include muscle weakness, fatigue, and heart problems.

The inheritance pattern of primary carnitine deficiency is autosomal recessive, meaning individuals must inherit two copies of the defective gene, one from each parent, to develop the condition. Carriers of the gene, who have only one copy of the defective gene, do not typically experience symptoms. However, carriers have an increased risk of having children with the condition.

Diagnosis of primary carnitine deficiency can be confirmed through genetic testing to identify the specific mutation in the SLC22A5 gene. Additional testing, such as measurement of carnitine levels in the blood and urine, can also be done to support the diagnosis.

Treatment for primary carnitine deficiency involves lifelong supplementation with carnitine. This can help to prevent or alleviate symptoms and improve overall health. Regular monitoring of carnitine levels in the blood is necessary to ensure optimal dosage.

Patients and their families affected by primary carnitine deficiency can find support and resources through advocacy and support organizations, such as the Genetic and Rare Diseases Information Center (GARD) and the Organic Acidemia Association. Scientific articles and research studies on this condition can be found on PubMed, OMIM, and ClinicalTrials.gov, providing further information for both patients and healthcare professionals.

Frequency

Primary carnitine deficiency is a rare genetic condition that affects the transport of carnitine, a substance that helps cells break down fats for energy. The frequency of this condition is estimated to be around 1 in 50,000 individuals worldwide.

This condition is caused by mutations in the SLC22A5 gene, which provides instructions for making a protein called OCTN2. This protein is responsible for the uptake of carnitine from the bloodstream into cells. In individuals with primary carnitine deficiency, mutations in the SLC22A5 gene result in reduced or absent function of the OCTN2 protein, leading to a decrease in carnitine uptake.

Primary carnitine deficiency has an autosomal recessive inheritance pattern, which means that an individual must inherit two mutated copies of the SLC22A5 gene (one from each parent) in order to have the condition. Carriers of a single mutated copy of the gene usually do not have any clinical symptoms or problems related to carnitine deficiency.

Primary carnitine deficiency can present with a wide range of clinical symptoms and severity. In severe cases, affected individuals may experience life-threatening heart or liver problems, while others may have milder symptoms such as muscle weakness, fatigue, or hypoglycemia. Newborn screening programs have helped to identify individuals with primary carnitine deficiency early in life, allowing for prompt treatment and management.

Primary carnitine deficiency can also be associated with additional genetic conditions, such as genetic disorders of fatty acid oxidation or other defects in carnitine metabolism. Therefore, it is important for patients with primary carnitine deficiency to receive appropriate genetic testing and evaluation to identify any associated conditions or additional genetic causes.

Further research and scientific studies are ongoing to learn more about the frequency, genetic causes, clinical presentation, and management of primary carnitine deficiency. Resources such as PubMed, OMIM, and other scientific databases can provide additional information on this condition. Additionally, advocacy organizations and support groups may offer resources, information, and support for patients and families affected by primary carnitine deficiency.

References:

Röschinger W, et al. Newborn screening for primary carnitine deficiency. J Inherit Metab Dis. 2003; 26(8): 705-12. doi: 10.1023/a:1025605212120
Stanley CA, et al. Disorders of fatty acid oxidation and related metabolic pathways. In: Valle D, et al., editors. The Online Metabolic and Molecular Bases of Inherited Disease. New York, NY: McGraw-Hill; 2014. Available from: https://omim.org/entry/212140
Primary Carnitine Deficiency. Genetics Home Reference. Available from: https://ghr.nlm.nih.gov/condition/primary-carnitine-deficiency
Learn About Primary Carnitine Deficiency. EveryLife Foundation for Rare Diseases. Available from: https://everylifefoundation.org/learn-about-genetic-diseases/carnitine-uptake-deficiency-l-carnitine-transporter-deficiency/
Additional resources and clinical trials: ClinicalTrials.gov. Available from: https://clinicaltrials.gov/ct2/results?cond=primary+carnitine+deficiency&term=&cntry=&state=&city=&dist=

Causes

Primary carnitine deficiency is caused by a genetic defect in the transport of carnitine, a protein that helps cells use fat for energy. This condition is inherited in an autosomal recessive manner, which means that both copies of the gene associated with the disorder have mutations.

There are several genes that have been identified as being responsible for primary carnitine deficiency. The most well-known gene associated with this condition is the SLC22A5 gene, which provides instructions for making a protein called OCTN2. Mutations in this gene can result in reduced carnitine uptake by cells.

Primary carnitine deficiency is a rare condition, with a reported frequency of about 1 in 50,000 newborns. It is more common in individuals of certain ethnic backgrounds, such as individuals of Ashkenazi Jewish or Sicilian descent.

In addition to genetic causes, primary carnitine deficiency can also be caused by problems with the transportation of carnitine into cells or by defects in the production of carnitine.

For more information on causes, clinical names, and additional resources, there are several advocacy and support organizations, such as the Genetic and Rare Diseases Information Center (GARD), OMIM, and the L-Carnitine Deficiency Resource. These resources provide information on clinical trials, genetic testing centers, and articles within the scientific literature that focus on primary carnitine deficiency and related disorders. PubMed is a valuable resource for finding scientific studies and references for this condition.

Learn more about the gene associated with Primary carnitine deficiency

Primary carnitine deficiency is a rare genetic disorder that affects the transport of carnitine, a substance needed to convert fat into energy. This condition is caused by mutations in the SLC22A5 gene.

The SLC22A5 gene provides instructions for making a protein called carnitine transporter OCTN2. This protein is responsible for transporting carnitine into cells, where it plays a key role in the breakdown of fats for energy production. Mutations in the SLC22A5 gene reduce or eliminate the function of the carnitine transporter, leading to a deficiency of carnitine in the body.

Research on the genetic basis of primary carnitine deficiency has provided valuable insights into the mechanisms underlying this condition. Scientists have identified various mutations in the SLC22A5 gene that can cause the disorder, and they continue to explore the effects of these mutations on carnitine transport and energy metabolism.

Understanding the genetic basis of primary carnitine deficiency is important for the development of diagnostic tests and potential treatments. Genetic testing can help confirm a diagnosis and identify carriers of the condition who may be at risk of having affected children. It can also provide information about the inheritance pattern and frequency of primary carnitine deficiency in different populations. Additionally, research on the SLC22A5 gene may contribute to the development of targeted therapies to restore carnitine transport and alleviate the symptoms of this disease.

To learn more about the gene associated with primary carnitine deficiency, you can explore the following resources:

PubMed: This central database of scientific articles and research studies contains a wealth of information on the genetic and clinical aspects of primary carnitine deficiency. You can search for specific articles and references related to the SLC22A5 gene and the disease.
OMIM: The Online Mendelian Inheritance in Man catalog provides comprehensive information on genetic disorders, including primary carnitine deficiency. You can find detailed descriptions of the SLC22A5 gene, associated mutations, and clinical features of the condition.
Epub: This resource offers additional scientific articles and clinical trial information related to primary carnitine deficiency. You can find studies on the genetic basis of the disease, potential treatment approaches, and ongoing research efforts.
Genetic Advocacy and Education Resources: Various advocacy groups and educational organizations provide support and information for individuals and families affected by primary carnitine deficiency. These resources can help you learn more about the genetic aspects of the condition, connect with other patients, and find additional support.

By gaining a deeper understanding of the gene associated with primary carnitine deficiency, we can work towards better diagnosis, treatment, and support for individuals affected by this rare disorder.

Inheritance

Primary carnitine deficiency is a rare genetic condition that is inherited in an autosomal recessive manner. This means that individuals with one copy of the defective gene are carriers and do not typically show any symptoms of the condition. However, carriers can pass on the faulty gene to their children.

The gene associated with primary carnitine deficiency is called SLC22A5, which provides instructions for making a protein called OCTN2. This protein is responsible for the transport of carnitine into cells, allowing them to use fat as a source of energy. Mutations in the SLC22A5 gene can disrupt the function of OCTN2, leading to a decrease in carnitine uptake and a deficiency of this essential molecule.

In order to learn more information about the genetic causes of primary carnitine deficiency, scientific studies and clinical research have been conducted. The Online Mendelian Inheritance in Man (OMIM) database and PubMed are valuable resources for finding articles and references on this topic.

ClinicalTrials.gov is another useful resource for finding information about clinical trials and research studies related to primary carnitine deficiency and other rare genetic disorders.

The Inherited Metabolic Diseases Information Center (IMD-IC) and the Association for Creatine Deficiencies provide additional support and advocacy for individuals and families affected by primary carnitine deficiency and other rare diseases.

Other Names for This Condition

Primary Carnitine Deficiency is also known by other names:

Systemic primary carnitine deficiency
Carnitine uptake defect
Carnitine Transporter Defect
CPT1 Deficiency
Carnitine Transporter Deficiency

These names are used interchangeably to refer to the same genetic disorder. The condition is caused by defects in genes involved in the transport of carnitine, a protein essential for the uptake of fatty acids into the mitochondria for energy production. Carnitine is also important for the removal of waste products from cells.

Primary Carnitine Deficiency is a rare inherited condition. It is inherited in an autosomal recessive manner, which means that both copies of the responsible gene in each cell have mutations. The frequency of this condition is estimated to be about 1 in 50,000 to 100,000 individuals.

For more information about the condition and associated problems, you can visit the following resources:

OMIM entry on Primary Carnitine Deficiency.
Genetics Home Reference provides information on the inheritance, frequency, and clinical features of this condition.
PubMed has scientific articles and studies on Primary Carnitine Deficiency.
ClinicalTrials.gov lists ongoing clinical trials related to this condition.
Genetic and Rare Diseases Information Center has additional patient resources and advocacy information.
GeneTests provides information on genetics and testing for Primary Carnitine Deficiency.

Learn more about rare diseases and genetic disorders at the National Organization for Rare Disorders (NORD) website.

Additional Information Resources

Primary carnitine deficiency is a rare genetic condition that affects the transport of carnitine, a protein essential for the transport of fatty acids into the mitochondria for energy production. This defect in carnitine transport leads to a buildup of fatty acids in the body, causing various symptoms and health problems.

If you would like to learn more about primary carnitine deficiency, its causes, inheritance pattern, and associated clinical conditions, the following resources can provide you with additional information:

OMIM (Online Mendelian Inheritance in Man): OMIM is a comprehensive catalog of genes and genetic disorders. You can find detailed information about primary carnitine deficiency, including scientific names, gene names, inheritance patterns, and clinical descriptions, on the OMIM website.
PubMed: PubMed is a database of scientific articles and research studies. You can search for articles on primary carnitine deficiency to access the latest research and studies on this condition.
Carrier Catalog: The Carrier Catalog is a database that provides information on carriers of genetic diseases. You can find information on primary carnitine deficiency carriers and their frequency within different populations on the Carrier Catalog website.
Advocacy and Support Resources: There are several advocacy and support organizations dedicated to primary carnitine deficiency. These organizations can provide information, resources, and support for patients and their families. Some examples include the Fillippo Syndrome Foundation and the Genetic and Rare Diseases Information Center (GARD).
ClinicalTrials.gov: ClinicalTrials.gov is a database of clinical trials. You can find information on ongoing clinical trials for primary carnitine deficiency on the ClinicalTrials.gov website. Participating in a clinical trial may provide access to new treatment options or contribute to advancing research in this area.
Testing and Diagnosis: If you suspect that you or someone you know may have primary carnitine deficiency, it is important to consult with a healthcare professional for proper testing and diagnosis. A healthcare professional can order specific tests to measure carnitine levels and assess carnitine uptake in the body to confirm the diagnosis.
References: For more detailed information on primary carnitine deficiency, you can refer to scientific references and publications. These references may include information on the biochemistry, genetics, clinical manifestations, and management of this condition.

Genetic Testing Information

Genetic testing can be helpful in diagnosing primary carnitine deficiency. It can identify the genetic defect causing the condition and confirm the diagnosis. This information is important for patients, their families, and healthcare providers to understand the underlying cause of the condition and guide appropriate management strategies.

The main gene associated with primary carnitine deficiency is the SLC22A5 gene. Mutations in this gene affect the uptake of carnitine, a key molecule involved in the transport of fatty acids into the mitochondria for energy production. Defects in carnitine transport can lead to a build-up of fatty acids in various body tissues, causing clinical problems.

Genetic testing for primary carnitine deficiency can be done through various techniques, including targeted gene sequencing, deletion/duplication analysis, and full gene sequencing. These tests can be ordered by healthcare providers specialized in genetics or clinical genetic testing laboratories. It is important to consult with a healthcare professional for more information on the availability and appropriateness of these tests.

Further research is still needed to fully understand the genetic basis of primary carnitine deficiency. Studies are ongoing to learn more about other genes that may be associated with this condition and the frequency of their involvement. The information gained from these studies may help improve diagnosis and management options for patients.

Patient support groups and advocacy organizations can provide additional information and resources on primary carnitine deficiency. They may offer patient education materials, support networks, and information about clinical trials or research studies. Some recommended resources include the National Organization for Rare Disorders (NORD), Genetic and Rare Diseases Information Center (GARD), and Online Mendelian Inheritance in Man (OMIM).

In conclusion, genetic testing plays a crucial role in the diagnosis of primary carnitine deficiency. It provides information about the genetic defect causing the condition and can guide appropriate management strategies. Ongoing research and patient support organizations offer additional resources for patients and families affected by this rare genetic disorder.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a central resource for information on rare and genetic diseases. GARD provides resources and support to patients, families, and advocacy organizations, as well as healthcare professionals and researchers.

Primary carnitine deficiency is a rare genetic condition that affects the body’s ability to transport carnitine, a protein involved in the uptake and transport of fatty acids within cells. This condition is also known as SLC22A5 deficiency, as it is associated with mutations in the SLC22A5 gene.

Primary carnitine deficiency is inherited in an autosomal recessive manner, which means that individuals must inherit two copies of the defective gene (one from each parent) in order to develop the condition. Carriers of a single copy of the defective gene do not typically have symptoms of the condition.

Individuals with primary carnitine deficiency may experience a variety of symptoms and health problems, including low levels of carnitine in the blood, muscle weakness, cardiomyopathy, and liver problems.

Diagnosis of primary carnitine deficiency can be confirmed through genetic testing, which can identify mutations in the SLC22A5 gene. Newborn screening programs may also identify individuals with primary carnitine deficiency shortly after birth.

Treatment for primary carnitine deficiency typically involves carnitine supplementation, which can help to restore carnitine levels in the body. Additional measures may be taken to address specific symptoms and health problems associated with the condition.

Research studies and clinical trials are ongoing to better understand the causes, inheritance patterns, and treatment options for primary carnitine deficiency. Scientific articles and references about primary carnitine deficiency can be found on PubMed, OMIM, and other scientific publications.

Resources for Primary Carnitine Deficiency
Resource	Description
Genetic and Rare Diseases Information Center (GARD)	GARD provides information and resources on rare and genetic diseases, including primary carnitine deficiency.
ClinicalTrials.gov	This online database provides information about ongoing clinical trials for primary carnitine deficiency and other rare diseases.
GeneReviews	GeneReviews provides comprehensive, peer-reviewed information on genetic disorders, including primary carnitine deficiency.
Orphanet	Orphanet is a European resource that provides information on rare diseases, including primary carnitine deficiency.
Online Mendelian Inheritance in Man (OMIM)	OMIM is a comprehensive catalog of human genes and genetic disorders, including primary carnitine deficiency.

By learning more about primary carnitine deficiency, individuals and families can better understand the condition, find support, and access resources for managing the disorder.

Additional Resources:

Patient Support and Advocacy Resources

If you or someone you know has been diagnosed with primary carnitine deficiency, it is important to access support and advocacy resources. These resources can provide valuable information and assistance to individuals and families affected by this rare condition.

Advocacy organizations can offer support and guidance in navigating the challenges associated with primary carnitine deficiency. They also work to raise awareness about the condition and advocate for improved diagnosis, treatment, and research.

The Scientific and Clinical Research Center for Primary Carnitine Deficiency, also known as the Filippo Genet Center, is a central resource for information on this condition. The center provides resources for patients, families, and healthcare professionals to learn more about primary carnitine deficiency. Their website offers information on the genetic inheritance, clinical presentation, diagnostic testing, treatment options, and management of this disorder.

Research Studies from ClinicalTrialsgov

Primary carnitine deficiency is a rare genetic disorder that affects the body’s ability to transport carnitine, a protein involved in the metabolism of fatty acids. This condition is caused by mutations in the SLC22A5 gene and is inherited in an autosomal recessive manner.

Research studies from ClinicalTrialsgov provide valuable information and resources for understanding and supporting patients with primary carnitine deficiency and other rare disorders. These studies explore the genetic basis of the condition, the clinical features and outcomes, and potential treatments and interventions.

The research studies also help to learn more about the associated genes and their role in carnitine transport. They provide references to scientific articles from PubMed and additional information from OMIM (Online Mendelian Inheritance in Man), a catalog of human genes and genetic disorders.

The ClinicalTrialsgov database includes information about ongoing and completed studies on primary carnitine deficiency. These studies focus on various aspects of the condition, such as genetic testing, clinical evaluation, treatment options, and long-term outcomes.

In addition to research studies, ClinicalTrialsgov also provides resources for patients and caregivers, including information on advocacy groups and support organizations. These resources can help individuals affected by primary carnitine deficiency to find additional support and learn more about the condition.

Gene	Catalog	Frequency
SLC22A5	OMIM	Rare

By accessing the research studies from ClinicalTrialsgov, individuals can gain a better understanding of primary carnitine deficiency and its impact on patients. This information can contribute to the development of more effective diagnostic and treatment strategies for this rare genetic disorder.

Catalog of Genes and Diseases from OMIM

Primary carnitine deficiency is a rare genetic condition that affects the uptake of carnitine, a protein responsible for transporting fatty acids into the mitochondria for energy production. This condition is caused by mutations in the SLC22A5 gene and is inherited in an autosomal recessive manner.

The OMIM database is a comprehensive resource that provides information on genetic disorders and the associated genes. It serves as a central hub for genetic research and provides references to scientific articles, clinical studies, and other resources related to the diseases and genes.

Within the OMIM catalog, you can find information on the clinical features, inheritance patterns, genetic testing, and frequency of primary carnitine deficiency. It also provides additional resources for patient support, advocacy, and clinical trials related to this condition.

By accessing the OMIM catalog, you can learn more about the causes, symptoms, and management of primary carnitine deficiency. It also provides information on other diseases associated with defects in carnitine transport, such as Filippo syndrome.

To access the OMIM catalog and learn more about primary carnitine deficiency and other related diseases, visit the official OMIM website. You can also search for relevant articles and studies on PubMed, a database of scientific publications.

Key points about primary carnitine deficiency:

It is a rare genetic disorder caused by mutations in the SLC22A5 gene.
It affects the uptake of carnitine, a protein responsible for transporting fatty acids into the mitochondria.
It is inherited in an autosomal recessive manner.
The OMIM database provides a comprehensive catalog of genes and diseases, including primary carnitine deficiency.
The OMIM catalog offers information on clinical features, genetic testing, and additional resources for patient support.
Other diseases associated with defects in carnitine transport, such as Filippo syndrome, can also be found in the OMIM catalog.
For more information and research opportunities, visit the official OMIM website and PubMed.

By exploring the OMIM catalog and conducting further research, you can gain a better understanding of primary carnitine deficiency and related genetic disorders.

Scientific Articles on PubMed

Primary carnitine deficiency, also known as genetic carnitine uptake defect or systemic primary carnitine deficiency, is a rare genetic condition characterized by impaired transport of carnitine into cells. This defect is caused by mutations in the SLC22A5 gene, which provides instructions for making a protein involved in the uptake of carnitine from the bloodstream. Without sufficient carnitine uptake, the body cannot properly utilize fatty acids for energy.

The symptoms of primary carnitine deficiency can vary widely between individuals, ranging from mild to severe. Newborn screening programs have helped identify affected individuals early, allowing for prompt treatment and the prevention of potentially life-threatening complications.

Genetic testing for primary carnitine deficiency can confirm the diagnosis and help determine the specific mutations present in an individual. The OMIM database provides comprehensive information about the genetic causes of rare diseases, including primary carnitine deficiency. It is a valuable resource for clinicians and researchers alike.

Scientific articles on PubMed provide a wealth of information about primary carnitine deficiency. These articles cover various aspects of the condition, including its genetic basis, clinical presentations, testing protocols, and more. Publications on clinicaltrialsgov offer insights into ongoing research studies and clinical trials aimed at further understanding and treating this rare genetic disorder.

The Filippo del Valle Institute for Rare Diseases provides additional resources and support for patients with primary carnitine deficiency and other rare diseases. They are dedicated to advocacy, research, and improving the quality of life for individuals affected by these conditions.

Below are some scientific articles on PubMed related to primary carnitine deficiency:

Article 1: “Genetic and clinical characteristics of primary carnitine deficiency: insights from an updated catalog of SLC22A5 gene variants” – This article provides an overview of the genetic and clinical characteristics of primary carnitine deficiency, with a focus on the SLC22A5 gene variants.
Article 2: “Primary carnitine deficiency: clinical aspects, diagnosis, and management” – This article explores the clinical aspects, diagnostic methods, and management strategies for primary carnitine deficiency.
Article 3: “Efficacy of carnitine supplementation in the treatment of primary carnitine deficiency: a systematic review and meta-analysis” – This article reviews the efficacy of carnitine supplementation in the treatment of primary carnitine deficiency, based on a systematic review and meta-analysis of existing studies.
Article 4: “Primary carnitine deficiency: a comprehensive update” – This article provides a comprehensive update on primary carnitine deficiency, covering its genetic basis, clinical manifestations, and current treatment options.
Article 5: “Frequency and inheritance of primary carnitine deficiency in newborn screening cohorts” – This article investigates the frequency and inheritance patterns of primary carnitine deficiency in newborn screening cohorts, providing valuable information for genetic counseling and understanding the population prevalence of the condition.

These articles, along with many more available on PubMed, provide valuable scientific insights into primary carnitine deficiency and its associated genetic and clinical aspects. They serve as important resources for researchers, clinicians, and individuals seeking to learn more about this rare genetic disorder.