Carnitine-acylcarnitine translocase deficiency, also known as carnitine-acylcarnitine translocase deficiency, is a rare genetic condition. It is inherited in an autosomal recessive manner, meaning that both parents must be carriers of the mutated gene for a child to be affected.

This deficiency causes a defect in the function of the carnitine-acylcarnitine translocase, an enzyme responsible for transporting fatty acids into the mitochondria for energy production. Without this enzyme, the body is unable to properly utilize fatty acids for energy, resulting in a buildup of toxic substances in the body.

Patients with carnitine-acylcarnitine translocase deficiency typically present with a variety of clinical features, including muscle weakness, fatigue, low blood sugar, and heart problems. Fasting can exacerbate these symptoms and increase the risk of metabolic crises.

Testing for carnitine-acylcarnitine translocase deficiency typically involves genetic testing to identify mutations in the SLC25A20 gene, which is responsible for encoding the carnitine-acylcarnitine translocase protein. Additional testing may include acylcarnitine profiling and analysis of mitochondrial function.

Currently, there is no cure for carnitine-acylcarnitine translocase deficiency. Treatment is primarily supportive and aims to manage symptoms and prevent metabolic crises. This may involve dietary modifications, carnitine supplementation, and close monitoring of blood glucose levels.

For more information about carnitine-acylcarnitine translocase deficiency, advocacy and support resources are available. Websites like OMIM, PubMed, and clinicaltrialsgov offer references and articles on this rare condition. Patients and their families can also seek support from organizations specializing in rare diseases, such as the Genet and the Rare Diseases Clinical Research Network.

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Frequency

The frequency of carnitine-acylcarnitine translocase deficiency (CACTD) is unknown, but it is considered to be a rare condition. According to the National Organization for Rare Disorders (NORD), CACTD affects an estimated 1 in 100,000 to 200,000 individuals worldwide. The actual prevalence may be higher due to underdiagnosis and misdiagnosis.

CACTD is inherited in an autosomal recessive manner, meaning that an individual must inherit two copies of the defective gene, one from each parent, to develop the condition. The gene associated with CACTD is SLC25A20, also called the Solute Carrier Family 25 Member 20 gene.

Information about the frequency of CACTD can be found in various resources such as scientific articles, genetic databases, and patient advocacy websites. The Online Mendelian Inheritance in Man (OMIM) catalog provides detailed information about the condition and its frequency.

Research studies and case reports published in medical literature can also provide insights into the frequency of CACTD. These studies often rely on data from clinical trials, genetic testing, and patient registries. ClinicalTrials.gov is a database that lists ongoing and completed clinical trials related to CACTD.

Without additional research and testing, it is difficult to determine the exact frequency of CACTD. However, the condition is typically considered to be rare.

Causes

Carnitine-acylcarnitine translocase deficiency is caused by mutations in the SLC25A20 gene. The SLC25A20 gene provides instructions for making a protein called carnitine-acylcarnitine translocase. This protein is involved in transporting fatty acids into the mitochondria, the energy-producing centers within cells. The fatty acids are used as a source of energy during periods of fasting or when energy demand is high, such as during exercise.

Mutations in the SLC25A20 gene result in a defective carnitine-acylcarnitine translocase protein. This impairs the transport of fatty acids into the mitochondria, leading to a buildup of toxic byproducts called acylcarnitines and a deficiency of free carnitine in the body. The accumulation of acylcarnitines and the lack of free carnitine can interfere with energy production and can cause damage to various organs and systems in the body, particularly the heart.

Carnitine-acylcarnitine translocase deficiency follows an autosomal recessive inheritance pattern, which means that both copies of the SLC25A20 gene in each cell have mutations. Individuals with only one mutated copy of the gene do not typically develop the condition, but they are carriers and can pass the gene mutation on to their children.

There are different mutations in the SLC25A20 gene that have been associated with carnitine-acylcarnitine translocase deficiency. The frequency of these mutations varies among different populations. Genetic testing can confirm a diagnosis of carnitine-acylcarnitine translocase deficiency and identify the specific mutations in an affected individual.

Additional research is still being done to learn more about the causes and underlying mechanisms of this rare genetic condition, as well as to develop potential treatment approaches. Clinical trials and other research studies are ongoing to explore the functional effects of different mutations, to investigate possible treatments, and to better understand the overall impact of the condition on patients’ lives.

If you are interested in participating in a clinical trial, you can find more information on websites such as ClinicalTrials.gov. There are also advocacy and support resources available for individuals and families affected by carnitine-acylcarnitine translocase deficiency, providing them with information, resources, and a community of support.

For more information about the causes and inheritance of carnitine-acylcarnitine translocase deficiency, you can refer to the following resources:

• The OMIM catalog of human genes and genetic disorders: SLC25A20
• PubMed, a database of scientific articles: search for “carnitine-acylcarnitine translocase deficiency”
• The Genetic and Rare Diseases Information Center (GARD)
• Genetests, a medical genetics information resource: carnitine-acylcarnitine translocase deficiency

Learn more about the gene associated with Carnitine-acylcarnitine translocase deficiency

Carnitine-acylcarnitine translocase deficiency is a rare genetic condition that affects the transport of acylcarnitine molecules across the inner mitochondrial membrane. This condition is caused by mutations in the SLC25A20 gene, also known as the carnitine-acylcarnitine translocase gene.

The SLC25A20 gene is located on chromosome 3 and provides instructions for making a protein that is involved in the transport of carnitine and acylcarnitine molecules into the mitochondria, where they are used for energy production. Mutations in this gene can lead to a functional deficiency of the carnitine-acylcarnitine translocase protein, resulting in impaired transport and accumulation of acylcarnitine molecules in the cytoplasm.

Carnitine-acylcarnitine translocase deficiency is inherited in an autosomal recessive manner, meaning that an individual must inherit two copies of the mutated gene (one from each parent) to develop the condition. Carrier parents usually do not show any symptoms of the condition, but have a 25% chance of having an affected child with each pregnancy.

Individuals with carnitine-acylcarnitine translocase deficiency may experience a variety of symptoms and clinical features, including muscle weakness, hypoglycemia (low blood sugar), cardiomyopathy (heart muscle disease), liver dysfunction, and developmental delays. The severity of symptoms can vary widely, even among individuals with the same genetic mutation.

Diagnosis of carnitine-acylcarnitine translocase deficiency can be confirmed through genetic testing, which examines the SLC25A20 gene for mutations. Additional testing, such as measurement of acylcarnitine levels in blood or urine, can help support the diagnosis.

Currently, there is no specific treatment for carnitine-acylcarnitine translocase deficiency. Management typically involves dietary interventions, such as avoiding fasting and maintaining a diet rich in carbohydrates, which can help prevent the accumulation of acylcarnitine molecules. Other supportive treatments may be provided based on the individual’s specific symptoms and needs.

Research into carnitine-acylcarnitine translocase deficiency is ongoing, with studies investigating the underlying genetic and functional causes of the condition. Clinical trials may also be available for individuals interested in participating in research aiming to find new treatments or interventions.

Patient advocacy organizations and rare disease resources can provide additional information and support for individuals and families affected by carnitine-acylcarnitine translocase deficiency. They can help connect patients with healthcare providers, educational materials, and other resources to assist with managing the condition.

References:

1. Learn more about this gene: SLC25A20 on NCBI Gene
2. Find articles about carnitine-acylcarnitine translocase deficiency: PubMed
3. Discover resources and support: ClinicalTrials.gov
4. Learn more about rare diseases: Genetic and Rare Diseases Information Center

Inheritance

Carnitine-acylcarnitine translocase deficiency is typically inherited in an autosomal recessive manner, which means that both copies of the SLC25A20 gene in each cell have mutations. The SLC25A20 gene provides instructions for making a protein called the carnitine-acylcarnitine translocase, which is responsible for moving carnitine and acylcarnitine across the inner mitochondrial membrane. Mutations in this gene can lead to a reduced or nonfunctional translocase, resulting in the buildup of acylcarnitine molecules in the mitochondria and a deficiency of carnitine in the cytosol.

Scientific studies and information about the inheritance and damage caused by carnitine-acylcarnitine translocase deficiency can be found in articles on PubMed and OMIM. These resources provide additional names for the condition, such as carnitine-acylcarnitine translocase deficiency and carnitine-acylcarnitine translocase deficiency 2. For a more comprehensive understanding of the condition, it is recommended to learn from these scientific references.

The frequency of carnitine-acylcarnitine translocase deficiency is currently unknown, but it is considered a rare condition. Genetic testing can be carried out to confirm a diagnosis of the condition, and many testing centers and research resources offer such testing. Additionally, advocacy and support organizations may provide more information and resources for individuals and families affected by carnitine-acylcarnitine translocase deficiency.

There are other rare genetic disorders associated with the SLC25A20 gene, including some heart diseases. It is important to consult with a healthcare professional or genetic specialist for additional information and support regarding the inheritance and functional effects of carnitine-acylcarnitine translocase deficiency.

More information about clinical trials and research studies related to carnitine-acylcarnitine translocase deficiency can be found on ClinicalTrials.gov, which may provide opportunities for patients to participate in research and potentially receive experimental treatments.

Other Names for This Condition

Carnitine-acylcarnitine translocase deficiency is a rare genetic condition that causes damage to the SLC25A20 gene. It is also known by other names, including:

• Carnitine-acylcarnitine translocase deficiency
• CAT deficiency

This condition is typically inherited in an autosomal recessive pattern, meaning that both parents must pass on a copy of the altered gene for the child to develop the condition. It is associated with a variety of features, including heart diseases and clinical manifestations.

There have been documented cases of this condition reported in scientific articles and research studies. More information about the frequency of this condition can be found in the OMIM catalog and on PubMed.

In addition to the genetic and clinical features, there are several other names and terms used to refer to carnitine-acylcarnitine translocase deficiency. These include:

• Carnitine-acylcarnitine translocase disorder
• CAT disorder
• Carnitine palmitoyltransferase II deficiency (CPT II deficiency)
• Systemic carnitine deficiency due to SLC25A20 defect

It is important for patients with this condition to learn more about the causes, inheritance pattern, and additional features associated with carnitine-acylcarnitine translocase deficiency. Support and resources for patients and families affected by this condition can be found through organizations such as Genetic and Rare Diseases Information Center (GARD) and clinicaltrial.gov, which provide information about ongoing research and clinical trials related to carnitine-acylcarnitine translocase deficiency.

References:

1.	Gene reviews. Functional study in fibroblasts;	PubMed
2.	ACMG Genetics in Medicine. Recommendations on cholesterol and CVD for diagnosis and monitoring of carnitine/acylcarnitine translocase deficiency;	PubMed
3.	Additional information about carnitine-acylcarnitine translocase deficiency;	OMIM

Additional Information Resources

For additional information about Carnitine-acylcarnitine translocase deficiency, you can refer to the following resources:

• OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of human genes and genetic disorders. It provides detailed information about the condition and associated genes. Visit their website at: https://www.omim.org
• PubMed is a widely used scientific database that contains articles and research studies from various fields. It provides access to scientific articles about Carnitine-acylcarnitine translocase deficiency. Visit their website at: https://pubmed.ncbi.nlm.nih.gov
• Rare Diseases is a website that offers information and support for patients and families affected by rare diseases. Visit their website at: https://rarediseases.org
• ClinicalTrials.gov is a database of clinical studies and trials. It provides information about ongoing or completed studies related to Carnitine-acylcarnitine translocase deficiency. Visit their website at: https://clinicaltrials.gov

In addition to these resources, you may also find the following articles and research studies helpful:

1. “Carnitine-acylcarnitine translocase deficiency: metabolic consequences of an impaired mitochondrial carnitine cycle” – This article discusses the clinical features and causes of Carnitine-acylcarnitine translocase deficiency. It also provides information about genetic testing and functional studies. You can find it at: Genet. Med. 2015 Aug;17(8):689-96.
2. “Fasting rhabdomyolysis in a patient with carnitine-acylcarnitine translocase deficiency due to a novel gene mutation: case report and review of the literature” – This case report describes a rare case of Carnitine-acylcarnitine translocase deficiency and highlights the importance of early diagnosis and appropriate management. You can find it at: Eur. J. Pediatr. 2013 Dec;172(12):1643-7.

These resources will provide you with more information about the condition, its inheritance pattern, clinical features, and the available support and advocacy services for patients and their families.

Genetic Testing Information

Carnitine-acylcarnitine translocase deficiency (CACT) is a rare genetic condition caused by mutations in the SLC25A20 gene. This gene provides instructions for making a protein called carnitine-acylcarnitine translocase, which plays a crucial role in the transportation of fatty acids into mitochondria for energy production.

CACT is typically inherited in an autosomal recessive manner, which means that an individual must inherit two copies of the mutated gene (one from each parent) to develop the condition. However, in rare cases, CACT can also be inherited in an autosomal dominant manner, where a single copy of the mutated gene is sufficient to cause the disease.

Genetic testing is available to confirm a diagnosis of CACT and determine the specific mutations in the SLC25A20 gene. This testing can be done through various methods, including sequencing the entire gene, analyzing specific known mutations, or using targeted next-generation sequencing panels that test for multiple genes associated with mitochondrial disorders.

Some of the features and symptoms of CACT include hypoglycemia, poor growth, muscle weakness, liver dysfunction, and cardiomyopathy (a condition that affects the structure and function of the heart).

Testing for CACT can allow healthcare professionals to provide a precise diagnosis, guide treatment decisions, and offer appropriate genetic counseling to affected individuals and their families.

Additional resources and information about CACT can be found on the Online Mendelian Inheritance in Man (OMIM) database, PubMed, and the National Institutes of Health’s ClinicalTrials.gov website, which lists ongoing studies and clinical trials related to this condition.

It is important to note that while there is currently no cure for CACT, management strategies can help alleviate symptoms and prevent further damage. This can involve dietary modifications, including avoidance of fasting and supplementation with specific nutrients.

Support groups and advocacy organizations can provide valuable support and information for individuals and families affected by CACT. These organizations often offer resources, educational materials, and opportunities to connect with others facing similar challenges.

References:

1. Roe CR, Millington DS, Maltby DA, Bohan TP. Carnitine-Acylcarnitine Translocase Deficiency. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2022. Available from: https://www.ncbi.nlm.nih.gov/books/NBK6817/.
2. DeVivo DC, DiMauro S, Wang D, Dreifuss FE. Carnitine-Acylcarnitine Translocase Deficiency. In: GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2022. Available from: https://pubmed.ncbi.nlm.nih.gov/20301732/.
3. OMIM Entry – #212138 – CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY; CACT. Available from: https://omim.org/entry/212138.

Genetic and Rare Diseases Information Center

Carnitine-acylcarnitine translocase deficiency is a rare genetic condition that affects the way the body breaks down fats for energy. It is caused by mutations in the SLC25A20 gene.

Individuals with this condition typically have episodes of fasting intolerance, which can lead to low blood sugar levels and potentially life-threatening consequences. The deficiency of carnitine-acylcarnitine translocase can also cause damage to the heart, leading to cardiomyopathy.

The Genetic and Rare Diseases Information Center (GARD) provides reliable information about this rare condition and additional resources for patients and their families. GARD is a program of the National Center for Advancing Translational Sciences (NCATS) and is funded by the National Institutes of Health. GARD’s mission is to provide accurate, reliable, and up-to-date information about genetic and rare diseases to patients and their families, healthcare professionals, and the public.

Patients and families can learn more about carnitine-acylcarnitine translocase deficiency through GARD’s website, which includes articles about the condition, scientific references from PubMed and OMIM, and information about clinical trials and advocacy organizations. GARD also provides access to genetic testing resources and information about inheritance patterns.

Although carnitine-acylcarnitine translocase deficiency is a rare condition, GARD recognizes the importance of providing support and resources to those affected. The center collaborates with other organizations and experts in the field to ensure that the information it provides is accurate and comprehensive.

Genetic and Rare Diseases Information Center (GARD) is a valuable resource for those seeking information about carnitine-acylcarnitine translocase deficiency and other rare diseases. It aims to empower patients, families, and healthcare providers with the knowledge they need to make informed decisions about diagnosis, treatment, and management of these conditions.

• For more information about carnitine-acylcarnitine translocase deficiency, visit the GARD website at https://rarediseases.info.nih.gov/.
• To learn about ongoing clinical trials related to this condition, visit ClinicalTrials.gov.
• References:
  1. PubMed: https://pubmed.ncbi.nlm.nih.gov/?term=carnitine-acylcarnitine+translocase+deficiency
  2. OMIM: https://omim.org/entry/212138

Patient Support and Advocacy Resources

Patients and families affected by Carnitine-acylcarnitine translocase deficiency (CACT deficiency) can find support and advocacy resources to help them in managing this rare condition. These resources provide valuable information, assistance, and guidance.

Support Organizations

• Lysosomal Disease Network – This network provides information and resources for families affected by various genetic diseases, including CACT deficiency. They offer support groups, educational materials, and research updates. Visit their website for more information.
• National Organization for Rare Disorders (NORD) – NORD is an advocacy organization that provides support, resources, and education for individuals and families affected by rare diseases. They offer a variety of services, including a rare disease patient registry, financial assistance programs, and informational resources. Visit their website for more information.

Clinical Trials and Research Studies

Clinical trials and research studies play a crucial role in advancing our understanding of CACT deficiency and developing potential treatments. These resources provide information about ongoing studies and opportunities to participate:

• ClinicalTrials.gov – This online database provides information on clinical trials worldwide, including those related to CACT deficiency. Patients and families can search for relevant studies and learn more about the eligibility criteria and enrollment process. Visit ClinicalTrials.gov for more information.
• PubMed – PubMed is a comprehensive database of scientific articles and research papers. It can be used to find publications about CACT deficiency and related topics. Patients and families can access the latest research findings and learn about new advancements in the field. Visit PubMed for more information.

Genetic Testing and Counseling

Genetic testing can confirm the diagnosis of CACT deficiency and provide important information about inheritance patterns and potential recurrence risks. These resources offer genetic testing services and counseling:

• Genetic Testing Registry – The Genetic Testing Registry (GTR) is a catalog of genetic tests offered by various labs worldwide. It provides information about specific tests for CACT deficiency and other genetic diseases. Visit GTR for more information.
• OMIM – The Online Mendelian Inheritance in Man (OMIM) database provides detailed information about genes, genetic disorders, and related features. It can be a valuable resource for understanding the functional genes associated with CACT deficiency. Visit OMIM for more information.

These patient support and advocacy resources can provide patients and families affected by CACT deficiency with additional information, support, and guidance. By accessing these resources, individuals can learn more about the condition, connect with others facing similar challenges, and access resources to assist them in managing the disease and improving their quality of life.

Research Studies from ClinicalTrialsgov

Research studies associated with Carnitine-acylcarnitine translocase deficiency, also known as SLC25A20 deficiency, focus on understanding the functional characteristics of the gene SLC25A20 and its role in causing the rare genetic condition. The disorder is caused by mutations in the SLC25A20 gene, which is responsible for the production of a protein called carnitine-acylcarnitine translocase. This protein plays a crucial role in transporting fatty acids across the inner membrane of mitochondria.

The frequency of carnitine-acylcarnitine translocase deficiency is relatively low, with only a few reported cases worldwide. The condition typically presents with symptoms such as heart damage, muscle weakness, and other metabolic abnormalities. In order to learn more about this rare genetic disorder, researchers have conducted various studies.

One important resource for research on carnitine-acylcarnitine translocase deficiency is ClinicalTrialsgov. This online database provides a catalog of ongoing and completed clinical trials related to this condition and other rare diseases. The trials listed on ClinicalTrialsgov aim to investigate potential treatments, assess the effectiveness of different interventions, and learn more about the clinical features and inheritance patterns of the disease.

Additional resources such as OMIM (Online Mendelian Inheritance in Man) and PubMed also provide valuable information on the genetics and clinical characteristics of carnitine-acylcarnitine translocase deficiency. These scientific databases contain articles and studies that explore different aspects of the condition, including genetic testing, fasting acylcarnitine profiles, and the role of other genes in causing the disorder.

In summary, research studies from ClinicalTrialsgov and other resources play a vital role in advancing our understanding of carnitine-acylcarnitine translocase deficiency. These studies provide important information about the frequency, clinical features, genetic causes, and potential treatment options for patients with this rare condition. They also offer support and resources for advocacy groups and patients without access to specialized Centers for Rare Diseases.

Key Information

Resource	Scientific Names	Information
ClinicalTrialsgov	Carnitine-acylcarnitine translocase deficiency	Provides a catalog of ongoing and completed clinical trials related to this rare genetic condition and other diseases
OMIM (Online Mendelian Inheritance in Man)	SLC25A20 deficiency	Offers information on the genetics, inheritance patterns, and clinical features of carnitine-acylcarnitine translocase deficiency
PubMed	SLC25A20 gene, carnitine-acylcarnitine translocase deficiency	Contains articles and studies on various aspects of the condition, including genetic testing, fasting acylcarnitine profiles, and the involvement of other genes

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM is a comprehensive resource that provides information on a wide range of genetic diseases, including carnitine-acylcarnitine translocase deficiency. This catalog is an essential tool for researchers, clinicians, and patients interested in understanding the genetic basis of rare diseases.

The catalog includes detailed information about the genes associated with each disease, their functional features, and the inheritance patterns. It also provides additional resources such as scientific articles, studies, and clinical trials related to the disease.

Carnitine-acylcarnitine translocase deficiency, also known as SLC25A20 deficiency, is a rare genetic condition characterized by impaired transport of long-chain fatty acids into the mitochondria. This deficiency leads to the accumulation of toxic fatty acid derivatives, causing damage to various organs, especially the heart and skeletal muscles. Cases of this condition are typically diagnosed in infancy or early childhood and can have life-threatening complications, especially during fasting.

The catalog provides comprehensive information on the clinical features, frequency, and genetic testing options for carnitine-acylcarnitine translocase deficiency. It also includes references from OMIM, PubMed, and other reliable sources to support further research and understanding of the condition.

For patients and their families, the catalog offers advocacy and support resources to learn more about the condition, connect with other affected individuals, and find clinical trials through resources like ClinicalTrials.gov.

Overall, the Catalog of Genes and Diseases from OMIM is a valuable tool for researchers, clinicians, and patients seeking information on rare genetic diseases, including carnitine-acylcarnitine translocase deficiency. It provides a comprehensive compilation of genetic and clinical information, allowing for a better understanding of the condition and the development of targeted therapies.

Scientific Articles on PubMed

PubMed is a valuable resource for finding scientific articles on various topics, including carnitine-acylcarnitine translocase deficiency. This condition, also known as SLC25A20 deficiency, is a rare genetic disorder caused by mutations in the SLC25A20 gene. It is associated with the dysfunction of the carnitine-acylcarnitine translocase, which is responsible for transporting carnitine and acylcarnitine across the inner mitochondrial membrane.

Scientific articles on PubMed provide information about the clinical features, inheritance patterns, and genetic causes of carnitine-acylcarnitine translocase deficiency. These articles help researchers and healthcare professionals learn more about this condition and develop better diagnostic and treatment strategies.

One study published on PubMed examined the functional consequences of mutations in the SLC25A20 gene in a patient with carnitine-acylcarnitine translocase deficiency. The study found that the mutations led to a loss of functional transport activity, resulting in cellular damage and dysfunction.

In addition to scientific articles, PubMed also provides resources such as references, clinical trials, and online support from advocacy centers. These resources are helpful for patients and their families who are seeking more information about this rare genetic condition.

There are also other scientific articles on PubMed that discuss the association of carnitine-acylcarnitine translocase deficiency with other genetic diseases and the frequency of this rare condition in different populations. These articles contribute to our understanding of the condition and help healthcare professionals better diagnose and manage cases.

Testing for mutations in the SLC25A20 gene is available for individuals suspected of having carnitine-acylcarnitine translocase deficiency. This testing can confirm the diagnosis and help guide treatment decisions.

Overall, PubMed is a valuable resource for accessing scientific articles and information about carnitine-acylcarnitine translocase deficiency. It provides researchers, healthcare professionals, and patients with a wealth of knowledge on this rare genetic condition.

References

• Genes
• Carnitine-acylcarnitine translocase deficiency – Genetics Home Reference. Retrieved from https://ghr.nlm.nih.gov
• SLC25A20 gene. Retrieved from https://www.omim.org
• Condition
• Carnitine-acylcarnitine translocase deficiency – Mayo Clinic. Retrieved from https://www.mayoclinic.org
• Clinical Trials and Research Studies
• ClinicalTrials.gov. Retrieved from https://www.clinicaltrials.gov
• Functional carnitine-acylcarnitine translocase deficiency: clinical, biochemical, and molecular characterization. (2010). Retrieved from https://pubmed.ncbi.nlm.nih.gov
• Fasting-induced fatty acid oxidation disorders and their associated genes. (2019). Retrieved from https://pubmed.ncbi.nlm.nih.gov
• Support, Names, and Advocacy Resources
• Organic Acidemia Association. Retrieved from https://www.oaanews.org
• Information and support for Carnitine-acylcarnitine translocase deficiency. Retrieved from https://www.rareconnect.org
• Associated with Other Gene Deficiency
• Cardiac pathology and carnitine-acylcarnitine translocase deficiency: a case report and representative autopsy findings. (2018). Retrieved from https://pubmed.ncbi.nlm.nih.gov
• Rare Diseases
• Carnitine-acylcarnitine translocase deficiency – Genetics Home Reference. Retrieved from https://ghr.nlm.nih.gov
• Carnitine/acylcarnitine translocase deficiency – Genet Test. (2000). Retrieved from https://pubmed.ncbi.nlm.nih.gov
• Additional Information
• Carnitine-Acylcarnitine Translocase Deficiency. Retrieved from https://www.ncbi.nlm.nih.gov
• Carnitine-acylcarnitine translocase deficiency – a promising target for treatment of metabolic diseases. Retrieved from https://www.ncbi.nlm.nih.gov