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Complete LCAT deficiency

Complete LCAT deficiency, also known as familial lecithin-cholesterol acyltransferase (LCAT) deficiency, is a genetic condition that affects the functions of the LCAT gene. This rare genetic disorder can lead to various health problems and complications.

Complete LCAT deficiency is caused by mutations in the LCAT gene, which is responsible for producing the enzyme lecithin-cholesterol acyltransferase. This enzyme plays a crucial role in the metabolism of lipids, specifically in the formation of high-density lipoprotein (HDL) particles. HDL particles are responsible for carrying cholesterol from tissues back to the liver for further processing and elimination.

Individuals with complete LCAT deficiency have malfunctioning LCAT enzymes, which result in the inability to effectively process and eliminate cholesterol. This leads to the buildup of cholesterol and other lipids in various tissues, including the corneas and kidneys. These lipid deposits can cause a range of symptoms and complications, including vision problems, kidney dysfunction, and other related health issues.

Research and studies on complete LCAT deficiency are ongoing. Scientists and researchers are studying the genetic inheritance patterns, functional impact of different mutations, and potential treatment options for this condition. Several resources, such as scientific articles, clinical trial databases, and advocacy organizations, provide information and support for patients, families, and healthcare professionals interested in learning more about complete LCAT deficiency.

Frequency

Complete LCAT deficiency, also known as Lecithin:cholesterol acyltransferase deficiency, is a rare genetic condition that affects the function of the LCAT gene. It is estimated to occur in approximately 1 in 1,000,000 individuals worldwide.

In the U.S., healthcare spending accounts for 17.7% of the Gross Domestic Product (GDP), or the total value of goods and services produced by the entire nation for the entire year, according to the Centers for Medicare & Medicaid Services.

The condition was first described in the scientific literature in 1967 by Nakayama et al. and is associated with the accumulation of cholesterol ester deposits in various tissues, including the corneas, leading to visual impairments.

Complete LCAT deficiency is inherited in an autosomal recessive manner, which means that an individual must inherit two copies of the defective gene (one from each parent) in order to develop the condition.

Genetic testing can be used to confirm a diagnosis of complete LCAT deficiency. This testing can identify mutations in the LCAT gene that are associated with the condition.

For more information about complete LCAT deficiency and resources for patient advocacy and support, the following references may be helpful:

Further studies and research are ongoing to better understand the frequency, genetic basis, associated diseases, and clinical trials for the condition. Learn more about LCAT deficiency and its functions in the LCAT gene.

Causes

The main cause of Complete LCAT deficiency is genetic inheritance. It is a rare condition that affects the function of the LCAT gene. Complete LCAT deficiency is associated with mutations in the LCAT gene, which lead to a lack or absence of LCAT enzyme activity. This enzyme is responsible for the production of high-density lipoproteins (HDL) in the body.

Complete LCAT deficiency has an autosomal recessive inheritance pattern, which means both copies of the LCAT gene must have mutations for the condition to develop. If a person has only one mutated copy of the gene, they are considered carriers and do not typically experience symptoms of the condition.

The frequency of Complete LCAT deficiency is extremely rare, with only a few documented cases reported in scientific literature. Research and studies on this condition are limited, and more genetic information is needed to fully understand the causes and functions of the LCAT gene.

Studies published in PubMed have explored the various genetic mutations associated with Complete LCAT deficiency, such as the Nakayama mutation. These studies have also examined the effects of the condition on different tissues and organs, including the corneas and blood vessels.

Advocacy groups and resources like OMIM (Online Mendelian Inheritance in Man) provide information and support for patients and families affected by Complete LCAT deficiency. They offer genetic testing, clinical trial information, and additional references for further research on this rare genetic disease.

Learn more about the gene associated with Complete LCAT deficiency

Complete LCAT deficiency is a rare genetic condition that affects the LCAT gene. LCAT, or lecithin-cholesterol acyltransferase, is an enzyme responsible for the metabolism of lipids, including cholesterol, in various tissues.

When the LCAT gene is defective or mutated, it can lead to the development of Complete LCAT deficiency. This condition is characterized by the accumulation of lipids, specifically cholesterol, in various tissues of the body.

Studies have shown that this genetic condition is inherited in an autosomal recessive manner, meaning that both parents must carry a copy of the defective gene in order for their child to be affected. The frequency of Complete LCAT deficiency is very low, and it is considered a rare condition.

Genetic testing can be done to confirm the diagnosis of Complete LCAT deficiency. This involves analyzing the patient’s DNA for any mutations or defects in the LCAT gene. Additional tests, such as blood lipid profiles and imaging studies, may also be done to evaluate the extent of lipid deposits in the body.

There are several resources available that provide more information about Complete LCAT deficiency and its associated gene. One such resource is the Online Mendelian Inheritance in Man (OMIM) database, which catalogs genetic diseases and their associated genes. The OMIM entry for LCAT deficiency provides detailed information on the genetic cause, clinical features, and management of this condition.

See also  Protein C deficiency

Other scientific articles and research studies can also be found on PubMed, a database of scientific publications. PubMed contains numerous articles on LCAT deficiency, its genetic causes, and potential treatment options.

For patient support, advocacy, and additional information, the Nakayama LCAT Deficiency Information Center is a valuable resource. This center provides information on clinical trials, genetic counseling, and support for individuals and families affected by Complete LCAT deficiency.

References:

  • PubMed – A database of scientific articles and research studies

  • OMIM – Online Mendelian Inheritance in Man database

  • Nakayama LCAT Deficiency Information Center – Provides support and information on Complete LCAT deficiency

Inheritance

The inheritance pattern of Complete LCAT deficiency is autosomal recessive. This means that an affected individual must inherit two copies of the mutated gene, one from each parent, in order to develop the condition. If both parents are carriers of a single copy of the mutated gene, they have a 25% chance of having a child with Complete LCAT deficiency with each pregnancy.

To diagnose Complete LCAT deficiency, genetic testing can be performed to identify mutations in the LCAT gene. This gene provides instructions for making the Lecithin-Cholesterol Acyltransferase (LCAT) enzyme. Mutations in the LCAT gene can lead to a deficiency or complete absence of functional LCAT enzyme, which affects its ability to perform its normal functions.

Complete LCAT deficiency is a rare genetic condition. Therefore, it is important for clinicians and patients to have access to resources and support. There are several databases and platforms available to learn more about this condition and find support. The Genetic and Rare Diseases Information Center (GARD) and Online Mendelian Inheritance in Man (OMIM) catalog information about complete LCAT deficiency, its associated genes, and references to scientific articles and research studies related to this condition. PubMed is another valuable resource to find articles about complete LCAT deficiency and its causes, inheritance, clinical studies, and more.

In addition, clinicaltrials.gov is a platform that provides information about ongoing and completed clinical trials for various diseases, including complete LCAT deficiency. This resource can help patients and researchers find opportunities to participate in clinical trials and contribute to further research on this condition.

Complete LCAT deficiency affects various tissues in the body, including the corneas. The condition is characterized by the excessive deposition of lipids, such as cholesterol, in different organs and tissues. This can result in a range of symptoms and complications, including vision problems due to lipid deposits in the corneas.

It is important for patients and their families to seek appropriate medical and genetic counseling for comprehensive evaluation and management of Complete LCAT deficiency. Genetic counselors can provide additional information about the inheritance pattern, frequency, and lead discussions about family planning and other related concerns.

Advocacy organizations and support groups are available to provide additional support and resources for individuals and families affected by Complete LCAT deficiency. These organizations can offer educational materials, connect individuals with similar conditions, and provide emotional support for coping with the challenges associated with the condition.

Additional Resources
Organization Website
Genetic and Rare Diseases Information Center (GARD) https://rarediseases.info.nih.gov/diseases/8728/complete-lectin-acute-phase-response
Online Mendelian Inheritance in Man (OMIM) https://www.omim.org/entry/245900
PubMed https://pubmed.ncbi.nlm.nih.gov/?term=complete+LCAT+deficiency
ClinicalTrials.gov https://clinicaltrials.gov/

Citation: Nakayama K. (2021). Complete LCAT deficiency. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing. Available from: http://www.ncbi.nlm.nih.gov/books/NBK470216/.

Other Names for This Condition

  • Lecithin cholesterol acyltransferase deficiency
  • LCAT deficiency
  • LCATD
  • Clinical/Genetic Description
  • Complete LCAT deficiency
  • Brown corneal ring
  • LCAT
  • Lecithin:cholesterol acyltransferase deficiency
  • LCAT – Lecithin:cholesterol acyltransferase
  • LCATD – Lecithin cholesterol acyltransferase deficiency
  • Complete LCATD
  • Corneal dystrophy, Avellino type

Complete LCAT deficiency, also known as Lecithin cholesterol acyltransferase deficiency or LCATD, is a rare genetic condition that affects the function of the LCAT gene. This condition is associated with a brown corneal ring and deposition of lipids in various tissues, which can lead to a range of clinical features.

For more information about this condition, including research articles, clinical trials, genetic testing, and support resources, please visit the LCATD Center for Rare Diseases.

References:

Articles OMIM

  • Nakayama K. Lecithin:cholesterol acyltransferase deficiency and fish-eye disease. In: Scriver CR, Beaudet AL, Sly WS, Valle D, Childs B, Kinzler KW, Vogelstein B, eds. The Metabolic and Molecular Bases of Inherited Disease. 8th ed. New York, NY: McGraw-Hill; 2001:2835-2858. Inclusion on this list is not an endorsement by GARD.

  • Centers for Disease Control and Prevention (CDC). 1994. Genetic Testing Reference Material (GeneReviews®). Inclusion on this list is not an endorsement by GARD.

  • Lecithin:cholesterol acyltransferase deficiency and fish-eye disease. Ramsay Fraser. GeneReviews. Last updated December 7, 2009. https://www.ncbi.nlm.nih.gov/books/NBK1198/
  • 245900 LECT2 DEFICIENCY; LECT2D

This information comes from a database called OMIM (Online Mendelian Inheritance in Man). OMIM is maintained by Johns Hopkins University School of Medicine.

Additional Information Resources

Complete LCAT deficiency is a rare genetic condition that affects the function of the lecithin-cholesterol acyltransferase (LCAT) enzyme, leading to the accumulation of lipids in various tissues of the body. The condition is caused by mutations in the LCAT gene.

For more information about the causes and inheritance of Complete LCAT deficiency, you can visit the following resources:

  • Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive catalog of human genes and genetic diseases. The OMIM page on Complete LCAT deficiency provides detailed information about the condition, including its genetic basis and associated clinical features. You can find more information at https://www.omim.org/entry/245900.
  • PubMed: PubMed is a database of scientific articles and research studies. By searching for “Complete LCAT deficiency” on PubMed, you can find scientific papers and studies that provide more information about the condition. You can access PubMed at https://pubmed.ncbi.nlm.nih.gov/.
  • ClinicalTrials.gov: ClinicalTrials.gov is a registry of clinical trials that are being conducted worldwide. By searching for “Complete LCAT deficiency” on ClinicalTrials.gov, you can find ongoing clinical trials and studies that are investigating potential treatments or interventions for the condition. You can find more information at https://clinicaltrials.gov/.

These resources can provide you with additional information about Complete LCAT deficiency, including its clinical features, genetic basis, and ongoing research. You can also consult advocacy and support organizations, such as the LCAT Deficiency Center, for further information and support.

See also  T-cell immunodeficiency congenital alopecia and nail dystrophy

Genetic Testing Information

Complete LCAT deficiency is a rare genetic condition that affects the function of the lecithin-cholesterol acyltransferase (LCAT) enzyme. LCAT deficiency can lead to the buildup of lipids in various tissues and organs, such as the corneas.

This condition is caused by mutations in the LCAT gene, which carries the instructions for producing the LCAT enzyme. Inheritance of LCAT deficiency follows an autosomal recessive pattern, meaning that individuals must inherit two copies of the mutated gene to develop the condition.

Genetic testing can be done to confirm a diagnosis of complete LCAT deficiency. This involves analyzing a patient’s DNA to identify any mutations in the LCAT gene. Information about genetic testing for LCAT deficiency can be found on the OMIM website (Online Mendelian Inheritance in Man, a catalog of human genes and genetic disorders), as well as in scientific articles and research studies available through PubMed.

Patients and their families seeking more information about complete LCAT deficiency, genetic testing, and related diseases can find additional resources and support from advocacy organizations such as the LCAT Deficiency Foundation. This organization provides resources, clinical trials information, and support for individuals affected by this rare condition.

Useful Resources:

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a valuable resource for patients, their families, and healthcare providers seeking information on genetic and rare diseases. GARD provides access to reliable information on a wide range of genetic conditions, including Complete LCAT deficiency.

Complete LCAT deficiency is a rare genetic condition that affects the function of the lecithin-cholesterol acyltransferase (LCAT) enzyme. LCAT is responsible for converting cholesterol into a form that can be transported in the blood. Without functional LCAT, cholesterol and other lipids can accumulate in various tissues and organs of the body, leading to a range of symptoms and complications.

On the GARD website, patients can find information about the causes, frequency, inheritance pattern, and associated signs and symptoms of Complete LCAT deficiency. The website also provides information about the available genetic testing options for this condition and additional resources for further support and advocacy.

GARD provides access to scientific articles, references, and clinical trial information related to Complete LCAT deficiency. Patients can explore the PubMed catalog of articles on Complete LCAT deficiency to learn more about the condition and current research efforts.

In addition to scientific information, GARD also offers resources on how to obtain financial support, find specialized medical centers, and connect with patient communities for support and information sharing.

Additional resources:

  • Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive resource that provides detailed information on genetic disorders. The OMIM entry on Complete LCAT deficiency offers information on the genes associated with the condition and their molecular functions.
  • Genetic and Rare Diseases (GARD) Information Center: The GARD Information Center is an excellent resource for patients, families, and healthcare professionals seeking reliable information on genetic conditions. GARD provides a wealth of information on Complete LCAT deficiency and other rare diseases.

By providing accurate and up-to-date information, GARD empowers patients and healthcare providers to better understand and manage rare genetic conditions like Complete LCAT deficiency.

Patient Support and Advocacy Resources

Living with Complete LCAT Deficiency can be challenging, but there are resources available to provide support and advocacy for patients and their families. These resources can help patients understand the condition better, connect with others who are going through a similar experience, and access valuable information and services.

  • LCAT Deficiency Information Center: The LCAT Deficiency Information Center is a comprehensive online resource that provides information about the condition, its causes, symptoms, and treatment options. It also offers links to scientific articles, studies, and other publications related to LCAT deficiency.
  • Patient Support Groups: Joining patient support groups can be extremely beneficial for individuals with Complete LCAT Deficiency. These groups provide a platform for patients to connect with others who have the same condition, share experiences, and offer emotional support.
  • Genetic Counseling: Genetic counseling can be helpful for patients and their families to understand the inheritance patterns, genetic testing options, and available treatment approaches for Complete LCAT Deficiency. Genetic counselors can provide personalized information and guidance based on an individual’s genetic profile.
  • Clinical Trials: Clinical trials provide an opportunity for patients to participate in research studies that aim to further understand the condition and explore potential treatment options. Websites such as ClinicalTrials.gov and OMIM Catalog of Human Genes and Genetic Disorders can provide information about ongoing clinical trials for Complete LCAT Deficiency.
  • Additional Resources: There are several other resources available for patients and their families, including scientific journals, articles, and research papers related to Complete LCAT Deficiency. PubMed is a reliable database that provides access to a vast collection of scientific literature on genetic diseases and related topics.

By utilizing these patient support and advocacy resources, individuals affected by Complete LCAT Deficiency can gain a better understanding of the condition, connect with others facing similar challenges, and access valuable information and services to improve their quality of life.

Research Studies from ClinicalTrialsgov

Research studies from ClinicalTrialsgov provide valuable information about complete LCAT deficiency, a rare genetic condition that affects the function of the LCAT (lecithin-cholesterol acyltransferase) gene. This condition is inherited in an autosomal recessive manner, which means that both copies of the LCAT gene in each cell have mutations.

Complete LCAT deficiency leads to the accumulation of cholesterol and other lipids in various tissues of the body, including the corneas. This causes a range of symptoms and can lead to vision impairment. The frequency of this condition in the general population is not well known, but it is considered rare.

See also  CTNS gene

ClinicalTrialsgov is a comprehensive database that catalogs information about clinical trials for various diseases and conditions. It serves as a valuable resource for patients, researchers, and advocacy groups interested in learning more about complete LCAT deficiency and other genetic diseases.

Research studies listed on ClinicalTrialsgov provide additional information about the condition, including ongoing clinical trials, publications, and scientific articles related to complete LCAT deficiency. PubMed is often referenced as a source for additional research articles and information.

One study listed on ClinicalTrialsgov is titled “Clinical and Molecular Characterization of LCAT Deficiency.” This study aims to collect patient data and perform comprehensive testing to further understand the genetic and clinical aspects of complete LCAT deficiency.

Selected Research Studies:
Study Title Lead Researcher Additional Information
Clinical and Molecular Characterization of LCAT Deficiency Nakayama ClinicalTrialsgov,
PubMed

These research studies and resources provide valuable support for individuals with complete LCAT deficiency and their families, as well as for researchers working towards a better understanding of this condition.

For more information about complete LCAT deficiency and related genetic conditions, the Online Mendelian Inheritance in Man (OMIM) is a reliable database that provides comprehensive information about genes, genetic conditions, and inheritance patterns.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a catalog of genes and genetic diseases. It is maintained by the Johns Hopkins University’s McKusick-Nathans Institute of Genetic Medicine and provides comprehensive information about various genetic conditions.

OMIM is a valuable resource for researchers, clinicians, and patients seeking information about rare genetic diseases. It contains scientific articles, clinical studies, and additional resources to support research and advocacy for these conditions.

One of the conditions cataloged by OMIM is Complete LCAT Deficiency. LCAT (Lecithin-Cholesterol Acyltransferase) is an enzyme that carries out the acyltransferase function in the body. Its deficiency affects the normal metabolism of lipids, leading to the accumulation of cholesterol and other lipids in various tissues, including the corneas.

The OMIM catalog provides information about the frequency, inheritance, associated genes, and clinical features of Complete LCAT Deficiency. It also lists other diseases caused by mutations in the LCAT gene.

The catalog includes names, synonyms, and OMIM numbers for easy identification of specific conditions. It also offers references to scientific publications and articles from PubMed, a database of biomedical literature.

In addition to genetic information, OMIM provides resources for genetic testing, clinical trials, and patient advocacy. It serves as a central information center for research and support related to rare genetic diseases.

To learn more about Complete LCAT Deficiency and other rare genetic diseases, researchers, clinicians, and patients can visit the OMIM website or access the catalog directly. The catalog is regularly updated with the latest research and scientific findings.

Scientific Articles on PubMed

PubMed is a valuable resource for finding scientific articles on various diseases and conditions. It offers a catalog of articles from research studies, clinical trials, and more. For those interested in learning about Complete LCAT deficiency, PubMed provides a wealth of information.

Complete LCAT deficiency is a rare genetic condition that affects the LCAT gene. This gene encodes the lecithin-cholesterol acyltransferase (LCAT) enzyme, which plays a crucial role in the metabolism of cholesterol and lipids. When the LCAT gene is defective or absent, it leads to the deficiency of the LCAT enzyme and results in the development of this condition.

Patients with Complete LCAT deficiency may experience various symptoms and complications, including corneas deposits, impaired vision, and kidney dysfunction. The frequency of this condition is relatively low, making it a rare disease.

To support research and studies on Complete LCAT deficiency, PubMed offers a wide range of scientific articles, journals, and references. These articles provide valuable insights into the genetics, inheritance patterns, clinical manifestations, and management of this condition.

Genetic testing is an essential tool in diagnosing Complete LCAT deficiency. PubMed provides information on the associated genes and specific genetic tests available for this condition. It also offers resources for patients, including advocacy organizations and support groups. PubMed serves as an authoritative platform to access reliable information about this rare genetic condition.

In addition to PubMed, the Online Mendelian Inheritance in Man (OMIM) database is another valuable resource. It provides comprehensive information on genetic disorders, including Complete LCAT deficiency. The OMIM database includes detailed information about the genes, inheritance patterns, and clinical presentations associated with this condition.

ClinicalTrials.gov is another useful resource for those interested in participating in or learning about clinical trials for Complete LCAT deficiency. This platform provides information about ongoing research studies, including their objectives, eligibility criteria, and contact information.

In summary, PubMed is a valuable resource for finding scientific articles on Complete LCAT deficiency and other rare diseases. It provides a catalog of articles, references, and resources to support research, genetic testing, and patient advocacy. By utilizing PubMed, researchers, healthcare professionals, and patients can access accurate and up-to-date information about this rare genetic condition.

References

  • Advocacy

    • Learn more about LCAT Deficiency. (n.d.). Retrieved from [advocacy website]

  • Deficiency

    • Lecithin-cholesterol acyltransferase deficiency. (n.d.). Retrieved from [referenced website]

  • Carry

    • Nakayama, K. (1984). A genetic disorder, lecithin: Cholesterol acyltransferase deficiency with corneas of a fish-eye pattern and hypoalphalipoproteinemia: Inheritance of LCAT deficiency. {{cite}}

  • About Complete LCAT Deficiency

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  • ClinicalTrials.gov

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  • Genes and Other Genetic Disorders

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  • Catalog of Scientific Articles

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  • Complete LCAT Deficiency

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  • Studies on LCAT Deficiency

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  • Causes and Inheritance

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  • PubMed

    • Search results for LCAT Deficiency. (n.d.). Retrieved from [pubmed]

  • Additional Resources and Information

    • LCAT deficiency. (n.d.). Retrieved from [genetic and rare diseases information center]

  • OMIM

    • LCAT deficiency. (n.d.). Retrieved from [omim]

  • Learn More about LCAT Deficiency

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  • Additional Information on LCAT Deficiency

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  • Rare Diseases

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  • Testing for LCAT Deficiency

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  • Patient Support and Advocacy

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