Lysinuric protein intolerance (LPI) is a rare autosomal recessive genetic disorder caused by mutations in the SLC7A7 gene, which codes for the y+LAT-1 protein. This condition is characterized by impaired transport of lysine, arginine, and ornithine across the cell membrane, leading to elevated levels of these amino acids in the blood and decreased levels in urine. LPI affects multiple organ systems and can manifest with a variety of symptoms, including growth failure, osteoporosis, and hyperammonemia. The exact frequency of LPI is unknown, as it is a rare disease, but it has been reported in populations from various ethnic backgrounds.

The clinical manifestations of LPI can vary widely among affected individuals. Symptoms can begin in infancy or later in childhood and may include failure to thrive, muscle weakness, hepatosplenomegaly, and pulmonary complications. LPI is often diagnosed based on clinical findings, elevated levels of lysine, arginine, and ornithine in the blood, and decreased levels of these amino acids in urine. Genetic testing can confirm the diagnosis by identifying mutations in the SLC7A7 gene.

Treatment for LPI involves restricting dietary intake of lysine, arginine, and ornithine, as well as providing nutritional supplements to address any deficiencies. Additional treatments may be required to manage specific symptoms, such as medication for pulmonary complications or growth hormone therapy for growth failure.

Research on LPI is ongoing, with studies aimed at understanding the underlying causes of the condition, developing new treatments, and improving outcomes for patients. ClinicalTrials.gov and PubMed are valuable resources for finding more information on ongoing research studies and scientific articles related to LPI. Genetic counseling and testing for family members of individuals with LPI are also available to assess the risk of inheriting the condition.

In conclusion, lysinuric protein intolerance is a rare genetic disorder caused by mutations in the SLC7A7 gene. It affects the transport of certain amino acids and can cause a range of symptoms. Ongoing research and clinical trials are providing more information about the causes and treatment of this condition. Genetic testing and counseling can help individuals and families affected by LPI understand the inheritance patterns and make informed decisions about their healthcare.

Frequency

Lysinuric protein intolerance is a rare genetic condition caused by mutations in the SLC7A7 gene. It is inherited in an autosomal recessive manner, which means that individuals need to inherit two mutated copies of the gene – one from each parent – in order to have the condition. The frequency of lysinuric protein intolerance is not well established, but it is believed to be a rare condition that affects many populations worldwide.

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According to scientific articles and studies, lysinuric protein intolerance has been reported in individuals from various ethnic backgrounds, including European, Asian, and African populations. The condition is more commonly diagnosed in individuals of Finnish descent, where the estimated frequency is about 1 in 60,000 to 1 in 100,000 individuals.

Lysinuric protein intolerance can cause a range of symptoms, including an impaired transportation of certain amino acids and increased ammonia levels in the body. This condition affects the function of the digestive system and can lead to gastrointestinal problems, such as vomiting and diarrhea, as well as osteoporosis and lung issues. Additionally, lysinuric protein intolerance is associated with an increased risk of developing kidney problems.

If you suspect that you or someone you know may have lysinuric protein intolerance, genetic testing and consultation with a healthcare professional is recommended. Additional information about testing and resources can be found on websites such as the National Institutes of Health’s Genetic and Rare Diseases Information Center (GARD), Online Mendelian Inheritance in Man (OMIM), and clinicaltrials.gov.

Currently, there are ongoing research studies and clinical trials aimed at further understanding lysinuric protein intolerance, its causes, and potential treatments. It is important to stay updated on the latest scientific findings and advancements in this field, as new information may become available that could lead to improved diagnosis and management of this condition. Patients and their families can also seek support and advocacy from organizations dedicated to lysinuric protein intolerance.

References:

  1. “Lysinuric Protein Intolerance.” Genetic and Rare Diseases Information Center (GARD). National Institutes of Health.

  2. “Lysinuric Protein Intolerance.” Online Mendelian Inheritance in Man (OMIM). Johns Hopkins University.

  3. “Lysinuric Protein Intolerance.” National Center for Biotechnology Information (NCBI). PubMed GeneReviews.

  4. “Lysinuric Protein Intolerance.” clinicaltrials.gov. U.S. National Library of Medicine.

Causes

Lysinuric protein intolerance (LPI) is a rare autosomal recessive genetic disorder caused by mutations in the SLC7A7 gene. The SLC7A7 gene provides instructions for making a protein called y+LAT-1, which is involved in the transportation of amino acids, including lysine, arginine, and ornithine.

LPI is caused by a defect in this transportation function, leading to a buildup of lysine, arginine, and ornithine in the body. This defect affects the body’s ability to absorb and utilize these amino acids, leading to a range of symptoms and complications.

LPI is inherited in an autosomal recessive manner, meaning that both copies of the SLC7A7 gene must be mutated in order for the disorder to occur. Individuals who carry one mutated copy of the gene are carriers and typically do not experience symptoms of LPI.

Research has identified over 50 different mutations in the SLC7A7 gene that can cause LPI. These mutations can vary in severity and impact on the functioning of the y+LAT-1 protein. Some mutations result in a complete loss of function, while others may only partially impair the protein’s activity.

Additionally, several other genes have been associated with LPI-like symptoms in rare cases. These genes include SLC36A2, SLC3A1, and SLC7A9. Mutations in these genes can result in similar symptoms and complications as LPI.

There is still much to learn about the precise genetic causes and mechanisms of LPI. Ongoing research, genetic testing, and scientific studies are providing additional information about the genes involved and their specific roles in the development of the condition. This knowledge is valuable for understanding the disease, improving diagnosis, and developing potential treatments.

See also  PNPLA3 gene

More information about the genetic causes and inheritance patterns of LPI can be found in scientific articles and resources such as PubMed, OMIM, and GeneReviews. These databases provide comprehensive information on genetic disorders, including LPI, and offer references to relevant research articles and clinical trials.

In addition to genetic causes, LPI has also been associated with other diseases and conditions. For example, individuals with LPI have an increased risk of developing osteoporosis, likely due to the impaired absorption of amino acids and their role in bone health. ClinicalTrial.gov also lists ongoing studies and clinical trials related to LPI and its associated complications.

Learn more about the gene associated with Lysinuric protein intolerance

Lysinuric protein intolerance is a rare genetic condition that affects the transportation of certain amino acids, including lysine, arginine, and ornithine, into cells. This condition is caused by mutations in the SLC7A7 gene, also known as the y+LAT-1 gene.

The SLC7A7 gene provides instructions for making a protein that is involved in the transportation of amino acids across cell membranes. Mutations in this gene result in a dysfunctional protein, leading to the impaired transportation of amino acids, particularly in the intestines and kidneys.

Lysinuric protein intolerance is inherited in an autosomal recessive pattern, which means that an individual must inherit two copies of the mutated gene (one from each parent) in order to develop the condition. People with only one copy of the mutated gene are carriers and do not typically show symptoms of the condition.

Individuals with lysinuric protein intolerance may experience a variety of symptoms, including poor feeding, growth retardation, muscle weakness, osteoporosis, and an increased susceptibility to infections. The condition can be diagnosed through genetic testing, which can identify the specific mutations in the SLC7A7 gene.

There is currently no cure for lysinuric protein intolerance, and treatment focuses on managing the symptoms and preventing complications. This may include dietary interventions, such as avoiding foods rich in lysine and arginine, as well as medications to help lower ammonia levels in the body.

If you would like to learn more about lysinuric protein intolerance, its genetic causes, or find additional resources and support for patients and families affected by this condition, the following references may be helpful:

  • OMIM (Online Mendelian Inheritance in Man) – a database of genetic diseases and associated genes: https://www.omim.org
  • PubMed – a database of scientific articles: https://pubmed.ncbi.nlm.nih.gov
  • Genetic and Rare Diseases Information Center (GARD) – an information resource for rare diseases: https://rarediseases.info.nih.gov
  • Lysinuric Protein Intolerance Advocacy and Research Center – a nonprofit organization dedicated to supporting research and advocacy for lysinuric protein intolerance: https://lysintol.org
  • ClinicalTrials.gov – a database of clinical trials for lysinuric protein intolerance and other diseases: https://clinicaltrials.gov

By further exploring these resources, you can gain more information and support related to lysinuric protein intolerance.

Inheritance

Lysinuric protein intolerance is a rare autosomal recessive genetic condition. It is caused by mutations in the SLC7A7 gene, also known as the y+LAT-1 gene. This gene is involved in the transportation of lysine, arginine, and ornithine.

Individuals with lysinuric protein intolerance cannot properly absorb these amino acids from the intestines, leading to their excretion in the urine. This condition is characterized by an inability to break down proteins, specifically low-protein diets, which can result in ammonia build-up and other metabolic disturbances.

The inheritance pattern of lysinuric protein intolerance means that both parents must carry a mutation in the SLC7A7 gene and pass it on to their child for the condition to develop. If both parents are carriers, each child has a 25% chance of inheriting the condition.

Lysinuric protein intolerance has a frequency of less than 1 in 100,000 individuals. It is more common in certain populations, such as individuals of Finnish descent.

For additional information about lysinuric protein intolerance, including clinical trials, research articles, and resources for patient support, references and other scientific resources can be found on websites such as PubMed, OMIM, ClinicalTrials.gov, and advocacy organizations like the Lysinuric Protein Intolerance Research and Support Center.

Other Names for This Condition

Lysinuric protein intolerance is also known by several other names including:

  • LPI
  • LYST deficiency
  • SLC7A7-related lysinuric protein intolerance
  • Hyperdibasic aminoaciduria type 2
  • Lysinuria
  • Hyperdibasic aminoaciduria
  • Aminoaciduria, di-dibasic

These alternative names can be used when searching for additional information about Lysinuric protein intolerance in resources such as PubMed, OMIM, ClinicalTrials.gov, and rare diseases databases. They can also be used to learn more about the clinical studies, genetic testing, and inheritance patterns associated with this condition.

Additional Information Resources

There are several resources available for additional information and support on lysinuric protein intolerance:

  • GeneReviews – This website provides a comprehensive overview of lysinuric protein intolerance, including information about its causes, symptoms, diagnosis, and management. It also offers genetic counseling information and resources for patients and families affected by the condition. Visit GeneReviews for more information.
  • OMIM – The Online Mendelian Inheritance in Man (OMIM) database is a valuable resource for finding detailed information on lysinuric protein intolerance and other genetic diseases. It provides a comprehensive list of associated genes, inheritance patterns, clinical features, and references to scientific literature. Visit OMIM for more information.
  • PubMed – PubMed is a database that provides access to a wide range of scientific literature. Searching for “lysinuric protein intolerance” on PubMed can provide you with current research articles, clinical studies, and case reports related to the condition. Visit PubMed for more information.
  • ClinicalTrials.gov – ClinicalTrials.gov is a registry and database of clinical studies. Searching for “lysinuric protein intolerance” on ClinicalTrials.gov can provide information on ongoing or upcoming clinical trials related to the condition. These trials may offer opportunities for patients to participate in research and access new treatments. Visit ClinicalTrials.gov for more information.
  • Lysinuric Protein Intolerance Network – The Lysinuric Protein Intolerance Network is an advocacy group that provides support, resources, and educational materials for patients and families affected by lysinuric protein intolerance. The network can help you connect with other individuals and families affected by the condition, learn about the latest research and treatment options, and find support in managing the challenges associated with the condition. Visit their website at Lysinuric Protein Intolerance Network for more information.

Genetic Testing Information

Lysinuric protein intolerance is a rare genetic condition caused by mutations in the SLC7A7 gene. This gene is responsible for the production of a protein called lysinuric protein transporter (LYCT1) that is involved in the transportation of lysine, arginine, and ornithine in the body.

See also  DBH gene

Genetic research has identified several mutations in the SLC7A7 gene that are associated with lysinuric protein intolerance. These mutations disrupt the function of the lysinuric protein transporter, leading to the accumulation of lysine, arginine, and ornithine in the body and the inability to properly metabolize these amino acids.

There are additional rare genes that have been identified as causes of lysinuric protein intolerance, such as SLC7A6 and SLC36A2. These genes play a role in the transportation and metabolism of amino acids.

To learn more about lysinuric protein intolerance, you can visit the following resources:

  • ClinicalTrials.gov: Provides information about ongoing clinical trials related to lysinuric protein intolerance.
  • OMIM (Online Mendelian Inheritance in Man): A comprehensive catalog of human genes and genetic disorders.
  • PubMed: Offers access to scientific articles and studies about lysinuric protein intolerance and other related diseases.

Patients and their families can also find support and advocacy resources through organizations dedicated to lysinuric protein intolerance. These organizations can provide information about the condition, connect patients with healthcare providers and specialists, and offer support to those affected.

Genetic testing can be used to confirm a diagnosis of lysinuric protein intolerance. This testing involves analyzing the patient’s DNA for mutations in the SLC7A7 gene and other associated genes. Genetic testing can also help determine the inheritance pattern of the condition in a family.

After a diagnosis of lysinuric protein intolerance is confirmed, additional testing may be recommended to assess the function of the lysinuric protein transporter and monitor the patient’s health. This may include measuring levels of amino acids in the blood and urine, assessing bone density to monitor for osteoporosis, and evaluating kidney function.

It is important for individuals with lysinuric protein intolerance and their families to stay informed about the latest research and treatment options. By understanding the genetic causes of the condition, patients and their healthcare providers can work together to manage symptoms, prevent complications, and improve quality of life.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center is a center dedicated to providing up-to-date information on genetic and rare diseases. It serves as a valuable resource for patients, caregivers, and healthcare professionals looking to learn more about these conditions and find available resources and support.

Lysinuric protein intolerance is a rare genetic condition associated with a defect in the SLC7A7 gene. This gene is involved in the transportation of lysine, arginine, and ornithine – amino acids essential for normal function. In individuals with lysinuric protein intolerance, the gene mutation leads to impaired transport of these amino acids, resulting in their accumulation within cells and increased levels of ammonia in the blood.

ClinicalTrials.gov is a useful resource for finding information on ongoing clinical trials related to lysinuric protein intolerance. Additional testing, research studies, and treatment options may be available through clinical trials, providing potential opportunities for patients to participate in advancing scientific knowledge and finding new approaches to manage the condition.

OMIM (Online Mendelian Inheritance in Man) and PubMed are other valuable resources for accessing scientific articles, research studies, and references related to lysinuric protein intolerance. These resources can help individuals learn more about the causes, inheritance patterns, clinical features, and management of this rare condition.

Advocacy organizations, such as the Lysinuric Protein Intolerance (LPI) Support Group, can also provide support and information for individuals and families affected by lysinuric protein intolerance. These organizations often offer newsletters, online forums, and educational materials to help individuals navigate the challenges associated with the condition.

Osteoporosis is a common complication observed in individuals with lysinuric protein intolerance. Regular monitoring and management of bone health, including calcium and vitamin D supplementation, is important to minimize the risk of fractures and maintain overall skeletal health.

Genetic and Rare Diseases Information Center provides a centralized location for individuals to access comprehensive and reliable information on lysinuric protein intolerance and other rare diseases. By offering resources, clinical trial information, support groups, and educational materials, the center aims to empower patients and their families to better understand and manage their conditions.

References:

  1. Genetics Home Reference. Lysinuric protein intolerance. Retrieved from https://ghr.nlm.nih.gov/condition/lysinuric-protein-intolerance
  2. Worldwide LPI Support Group. Information about LPI. Retrieved from https://www.lpi-support-group.org/information-about-lpi/
  3. Orphanet. Lysinuric protein intolerance. Retrieved from https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=470

Patient Support and Advocacy Resources

If you or someone you know has lysinuric protein intolerance (LPI), it is important to find support and resources to better understand and manage the condition. Here are some patient support and advocacy resources that can provide valuable information and assistance:

Genetic and Rare Diseases Information Center (GARD)

GARD offers a variety of resources for patients and families affected by lysinuric protein intolerance. They provide information about the condition, its causes, inheritance patterns, and associated genes. GARD also offers links to relevant scientific articles, genetic testing information, and clinical trials related to LPI.

Online Mendelian Inheritance in Man (OMIM)

OMIM is an online catalog of human genes and genetic disorders. Their database includes information on the genetic causes and function of lysinuric protein intolerance. OMIM provides detailed descriptions of the condition, associated genes, and relevant scientific studies.

PubMed

PubMed is a database of scientific articles and research studies. Searching for “lysinuric protein intolerance” on PubMed can provide additional scientific information on the condition, its symptoms, diagnosis, and treatment options. It is a valuable resource for patients and healthcare professionals looking for up-to-date research on LPI.

ClinicalTrials.gov

ClinicalTrials.gov is a registry of clinical trials conducted worldwide. Patients with lysinuric protein intolerance can search for ongoing or upcoming clinical trials related to the condition on this website. Participating in clinical trials can provide access to new treatments and contribute to scientific research on LPI.

Patient Support Groups

Joining patient support groups can offer valuable emotional support and practical advice for living with lysinuric protein intolerance. These groups often have online forums or in-person meetings where individuals affected by LPI can connect with others facing similar challenges. Patient support groups can also help raise awareness about the condition and advocate for better resources and research.

Remember, this is just a small selection of the available resources on lysinuric protein intolerance. There are many more organizations, websites, and publications dedicated to supporting patients with this rare condition. Utilize these resources to learn more about LPI, find support, and stay informed about the latest research and treatment options.

Research Studies from ClinicalTrialsgov

Research studies from ClinicalTrialsgov provide valuable information about lysinuric protein intolerance (LPI) and its associated conditions. LPI is a rare genetic disorder that affects the transport of amino acids, including lysine, arginine, and ornithine, and can lead to various health problems.

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Osteoporosis, or weakened bones, is one of the complications associated with LPI. Clinical trials are being conducted to test new treatments and interventions to help manage osteoporosis in patients with LPI.

These research studies aim to understand the causes of LPI, identify the genes involved, and learn more about the function of these genes. ClinicalTrialsgov is a valuable resource for finding information about ongoing and completed studies related to LPI.

Scientific articles and publications from PubMed, a database of biomedical literature, provide additional support and advocacy for LPI. PubMed provides access to articles and studies that discuss the genetic basis of LPI, its clinical features, and potential treatment options.

OMIM, a comprehensive catalog of human genes and genetic disorders, also provides valuable information about LPI. It includes detailed information about the genes involved in LPI, their inheritance patterns, and the frequency of the condition in different populations.

Patients and caregivers can find resources and information about LPI from the Lysinuric Protein Intolerance Research Center and other advocacy organizations. These resources can help provide support and information about managing the condition and accessing appropriate healthcare services.

In conclusion, research studies from ClinicalTrialsgov, along with scientific articles, support advocacy organizations, and genetic databases like OMIM, contribute to our understanding of lysinuric protein intolerance and its associated complications. Continued research and collaboration are vital for improving the diagnosis, treatment, and management of this rare genetic condition.

Catalog of Genes and Diseases from OMIM

Lysinuric protein intolerance is a rare genetic condition that affects the transportation of amino acids, particularly lysine, arginine, and ornithine, from the intestines into the bloodstream. This inability to transport these amino acids leads to a buildup of ammonia in the body, resulting in a range of symptoms and health issues.

The OMIM (Online Mendelian Inheritance in Man) catalog provides information about this and many more genetic diseases. It contains a comprehensive list of genes associated with lysinuric protein intolerance and provides detailed information on the inheritance pattern, clinical presentations, and biochemical functions of these genes.

OMIM also includes references to scientific articles and clinical trials related to lysinuric protein intolerance. Additional resources for research and support, such as PubMed and ClinicalTrials.gov, can be found in the catalog’s resources section.

Research studies have shown that lysinuric protein intolerance can cause a range of symptoms, including osteoporosis, muscle weakness, growth retardation, and respiratory problems. Patients with this condition often experience episodes of vomiting, diarrhea, and abdominal pain after consuming protein-rich foods.

The inheritance of lysinuric protein intolerance is autosomal recessive, meaning that an affected individual must inherit two copies of the mutated gene, one from each parent, to develop the condition. The SLC7A7 gene, also known as y+LAT-1, is the most frequently mutated gene associated with lysinuric protein intolerance.

Currently, there are no known cures for lysinuric protein intolerance. Treatment mainly focuses on managing the symptoms and preventing complications. This may involve dietary interventions to limit the intake of certain amino acids and medications to manage symptoms.

Advocacy organizations and support groups are available to provide information and support to individuals and families affected by lysinuric protein intolerance. These organizations can offer resources, connect individuals with healthcare professionals, and provide a community for sharing experiences and knowledge.

In conclusion, the OMIM catalog provides a wealth of information on lysinuric protein intolerance and other rare genetic diseases. It includes a comprehensive list of genes associated with the condition, information on inheritance patterns, clinical presentations, and biochemical functions. It is a valuable resource for researchers, healthcare professionals, and individuals and families affected by lysinuric protein intolerance.

Scientific Articles on PubMed

Lysinuric protein intolerance is a rare autosomal recessive genetic condition that causes impaired transportation of lysine, arginine, and ornithine out of the cells. It is also called ylat-1 deficiency, named after the gene that is involved in the transport of these amino acids. This condition leads to the accumulation of these amino acids in the body and can result in symptoms such as clinicaltrialsgov osteoporosis, growth retardation, and ammonia cycle disorders.

There are many scientific articles available on PubMed related to lysinuric protein intolerance. These articles provide valuable information about the genetics, clinical features, diagnosis, and management of this rare condition. Some of these articles discuss the involvement of other genes and the associated diseases.

Through the resources available on PubMed, researchers and healthcare professionals can learn more about lysinuric protein intolerance and stay updated with the latest studies and research in this field. PubMed provides a comprehensive catalog of scientific articles and studies, making it a valuable tool for gathering information about this condition.

In addition to PubMed, there are other resources available for lysinuric protein intolerance, such as OMIM (Online Mendelian Inheritance in Man) and clinicaltrialsgov. These resources provide additional references, genetic testing information, patient advocacy groups, and more. They play a crucial role in supporting patients and advancing research on this rare genetic condition.

Overall, lysinuric protein intolerance is a rare autosomal recessive condition that causes impaired transportation of amino acids and can lead to various symptoms and complications. Scientific articles on PubMed and other resources provide valuable information for researchers, healthcare professionals, and patients involved with lysinuric protein intolerance.

References

  • PubMed – a database with many articles about lysinuric protein intolerance. Available at: https://pubmed.ncbi.nlm.nih.gov/
  • Testing, Gene – Information about genetic testing for lysinuric protein intolerance. Available at: https://www.ncbi.nlm.nih.gov/gtr/tests/113052/overview/
  • Autosomal recessive inheritance – Learn more about autosomal recessive inheritance. Available at: https://ghr.nlm.nih.gov/primer/inheritance/inheritancepatterns
  • Ammonia – Scientific information about ammonia and its role in the urea cycle. Available at: https://pubchem.ncbi.nlm.nih.gov/compound/ammonia
  • ClinicalTrials.gov – A database with clinical trials related to lysinuric protein intolerance. Available at: https://clinicaltrials.gov/
  • Other Resources – Additional resources for learning about lysinuric protein intolerance. Available at: https://rarediseases.org/rare-diseases/lysinuric-protein-intolerance/
  • Genes – Information about the genes involved in lysinuric protein intolerance. Available at: https://www.ncbi.nlm.nih.gov/gene/?term=lysinuric+protein+intolerance
  • Osteoporosis – Learn more about the association between lysinuric protein intolerance and osteoporosis. Available at: https://www.ncbi.nlm.nih.gov/pubmed/18575370
  • Y+LAT-1 – Information about the function of the Y+LAT-1 protein in lysinuric protein intolerance. Available at: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2582405/
  • Information Center – The National Organization for Rare Disorders information center on lysinuric protein intolerance. Available at: https://rarediseases.org/rare-diseases/lysinuric-protein-intolerance/
  • Advocacy Groups – Advocacy groups for lysinuric protein intolerance. Available at: https://rarediseases.org/rare-diseases/lysinuric-protein-intolerance/
  • OMIM – Catalog of human genes and genetic disorders. Information about lysinuric protein intolerance can be found at: https://www.omim.org/entry/222700
  • Genetic causes – Research studies on the genetic causes of lysinuric protein intolerance. Available at: https://www.ncbi.nlm.nih.gov/pubmed/22896012