Lysosomal acid lipase deficiency (LAL-D) is a rare genetic condition that affects the breakdown of lipids in the lysosomes. Lysosomes are small sacs of enzymes within cells that help break down various substances, including fats. When there is a deficiency in the enzyme called lysosomal acid lipase, the lipids cannot be properly broken down. As a result, the lipids accumulate within the cells, particularly in the liver, leading to liver disease.

LAL-D is inherited in an autosomal recessive manner, meaning that both parents must pass on a copy of the mutated gene for a child to develop the condition. There are two forms of LAL-D: early onset and late onset. The early onset form usually presents in infancy and is more severe, while the late onset form can present in childhood, adolescence, or adulthood and is generally milder.

The symptoms of LAL-D can vary widely and depend on the activity of the acid lipase enzyme. Infants with the early onset form may experience failure to thrive, hepatomegaly (enlarged liver), and liver dysfunction. In the late onset form, patients may have elevated liver enzymes, hepatomegaly, cirrhosis, and dyslipidemia. Other less common symptoms include cardiovascular disease, pulmonary disease, and neurological complications.

Diagnosing LAL-D involves testing the activity of the acid lipase enzyme. A blood test called LAL enzyme assay can be used to measure enzyme activity. Genetic testing can also be performed to identify specific mutations in the LIPA gene, which is responsible for the production of lysosomal acid lipase. Additionally, liver biopsies and imaging studies may be used to assess liver damage.

Treatment for LAL-D depends on the severity of the condition and the symptoms present. For infants with the early onset form, enzyme replacement therapy (ERT) with recombinant human acid lipase is a potential treatment option. In some cases, liver transplantation may be necessary. For patients with the late onset form, management focuses on controlling symptoms and addressing associated conditions, such as lipid-lowering medications for dyslipidemia.

Research studies and clinical trials are currently underway to better understand LAL-D and develop new treatment options. Organizations, such as the National Institutes of Health and advocacy groups like the Lysosomal Acid Lipase Deficiency Advocacy Resource and The Lysosomal Disease Network, provide resources and support for patients and families affected by LAL-D.

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Frequency

Lysosomal acid lipase deficiency is a rare genetic condition that affects the breakdown of lipids within lysosomes. It is also known by other names such as Wolman disease and cholesteryl ester storage disease (CESD). The frequency of this deficiency is generally thought to be very low.

There have been limited studies on the frequency of lysosomal acid lipase deficiency in the general population. However, based on the available scientific articles and resources, it is believed to be a rare condition. It has been reported to occur in infants and children, with more severe forms causing significant health problems in infancy.

The exact frequency of lysosomal acid lipase deficiency is not well-established. The disease is inherited in an autosomal recessive manner, which means that individuals need to inherit two abnormal gene copies (one from each parent) to develop the condition. Therefore, the chances of having the disease depend on the carrier status of the parents.

According to the information available on the Online Mendelian Inheritance in Man (OMIM) database, the deficiency is associated with the LIPA gene. Additional research and testing are needed to determine the precise frequency of this deficiency in the general population.

Advocacy groups and patient organizations may provide more information about lysosomal acid lipase deficiency, including its frequency and associated health conditions. These resources can be helpful for individuals and families affected by this rare genetic disorder.

References to scientific articles and publications on lysosomal acid lipase deficiency and related diseases can be found on PubMed, a database of scientific articles. ClinicalTrials.gov is another useful resource for learning about ongoing research and clinical trials related to lysosomal acid lipase deficiency.

Causes

Lysosomal acid lipase deficiency is thought to be caused by mutations in the LIPA gene. The LIPA gene provides instructions for producing an enzyme called lysosomal acid lipase (LAL), which is responsible for the breakdown of lipids within lysosomes.

Deficiency of this enzyme leads to the accumulation of lipids in various tissues, including the liver leading to liver cirrhosis, and the walls of blood vessels leading to atherosclerosis. This accumulation of lipids can also lead to the formation of cholesterol-rich deposits called xanthomas.

The LIPA gene mutations that cause lysosomal acid lipase deficiency can be inherited in an autosomal recessive manner. This means that both copies of the gene in each cell must have mutations for the condition to be present. Individuals who inherit one copy of the mutated gene are carriers and typically do not show symptoms of the disorder.

In rare cases, mutations in other genes associated with lysosomal acid lipase activity have been identified as causes of the deficiency. These genes include PNPLA2 and CEL, among others.

References:

1. Lysosomal acid lipase deficiency. (2021, May 13). In OMIM: Online Mendelian Inheritance in Man. Retrieved from https://www.omim.org/entry/278000
2. Deficiency – Lysosomal Acid Lipase (LAL). (n.d.). Retrieved from https://www.rarediseases.org/rare-diseases/lysosomal-acid-lipase-deficiency/information
3. Learning About Lysosomal Acid Lipase Deficiency. (2021, August 3). Retrieved from https://rarediseases.info.nih.gov/diseases/7716/lysosomal-acid-lipase-deficiency
4. Lysosomal Acid Lipase Deficiency. (n.d.). Retrieved from https://ghr.nlm.nih.gov/condition/lysosomal-acid-lipase-deficiency
5. Lysosomal Acid Lipase Deficiency. (n.d.). Retrieved from https://rarediseases.org/rare-diseases/lysosomal-acid-lipase-deficiency/
6. Lysosomal Acid Lipase Deficiency. (n.d.). Retrieved from https://www.ncbi.nlm.nih.gov/books/NBK535411/
7. Causes of Lysosomal Acid Lipase Deficiency in Patients with Cirrhosis and Portal Hypertension. (2016). Retrieved from https://pubmed.ncbi.nlm.nih.gov/27098495/

Learn more about the gene associated with Lysosomal acid lipase deficiency

Lysosomal acid lipase deficiency is a rare genetic condition that affects the breakdown of lipids within lysosomes. This condition is caused by mutations in the gene known as LIPA (lipase A, lysosomal acid type). Deficiency in this gene leads to a decrease in the activity of lysosomal acid lipase, which is responsible for the breakdown of cholesteryl esters and triglycerides.

Infants with lysosomal acid lipase deficiency generally present with symptoms such as enlarged liver (hepatomegaly), cirrhosis, and abnormal lipid accumulation in various tissues. The severity of the condition depends on the extent of the deficiency and the health of the affected individual.

To learn more about the gene associated with lysosomal acid lipase deficiency, you can explore the following resources:

• OMIM: The Online Mendelian Inheritance in Man catalog provides comprehensive information on the LIPA gene, including its function, inheritance pattern, and associated diseases. You can find scientific articles, studies, and references related to lysosomal acid lipase deficiency.
• PubMed: PubMed is a database of scientific articles, providing access to the latest research on lysosomal acid lipase deficiency, its genetic basis, and potential treatment options.
• ClinicalTrials.gov: This database lists ongoing clinical trials related to lysosomal acid lipase deficiency. You can find information about research studies and testing for potential treatments or interventions.
• Genetic Testing Registry: This resource provides information on genetic testing options and laboratories that offer testing for lysosomal acid lipase deficiency. It includes details on the specific forms of the gene and their frequency within different populations.
• Advocacy organizations: There are various advocacy organizations dedicated to lysosomal acid lipase deficiency and other rare diseases. These organizations provide additional resources, support, and information for patients and their families.

By exploring these resources, you can learn more about the genetic basis of lysosomal acid lipase deficiency, its clinical manifestations, and potential avenues for treatment and management.

Inheritance

Lysosomal acid lipase deficiency is a rare genetic condition that is inherited in an autosomal recessive pattern. This means that a person must inherit two copies of the defective gene, one from each parent, in order to develop the condition.

The gene responsible for lysosomal acid lipase deficiency is called LIPA, and it provides instructions for making an enzyme called lysosomal acid lipase. This enzyme is involved in the breakdown and recycling of cholesteryl esters and triglycerides, which are important lipids in the body.

When the LIPA gene is mutated, it leads to a deficiency or a loss of lysosomal acid lipase activity. Without enough active lysosomal acid lipase, lipids can build up within the lysosomes of cells, leading to the symptoms and complications associated with the deficiency.

There are different forms of lysosomal acid lipase deficiency depending on the severity of the gene mutation. Wolman disease is the most severe form and is typically diagnosed in infants. Cholesteryl ester storage disease is a milder form that can occur in children or adults.

If both parents are carriers of a LIPA gene mutation, each of their children has a 25% chance of inheriting two mutated genes and developing lysosomal acid lipase deficiency. Carriers, who have only one copy of the mutated gene, usually do not have any symptoms of the condition.

Genetic testing can be done to confirm a diagnosis of lysosomal acid lipase deficiency and determine the specific gene mutations involved. This information can be used to provide genetic counseling and support to affected individuals and their families.

More research is needed to better understand the frequency and causes of lysosomal acid lipase deficiency, as well as to develop new treatments. Clinical trials and studies are ongoing to learn more about this rare condition.

For more information about lysosomal acid lipase deficiency, you can visit the following resources:

• Genetic and Rare Diseases Information Center (GARD): Provides information about the genetic causes, inheritance, and treatment options for lysosomal acid lipase deficiency. Available at: https://rarediseases.info.nih.gov/diseases/6455/lysosomal-acid-lipase-deficiency
• Online Mendelian Inheritance in Man (OMIM): A comprehensive catalog of human genes and genetic disorders, including lysosomal acid lipase deficiency. Available at: https://www.omim.org/entry/278000
• Lysosomal Acid Lipase Deficiency Center: A patient advocacy organization that provides information, support, and resources for individuals and families affected by lysosomal acid lipase deficiency. Available at: https://www.lysosomalacd.org/
• PubMed: A database of scientific articles with information about lysosomal acid lipase deficiency. Available at: https://pubmed.ncbi.nlm.nih.gov/?term=lysosomal+acid+lipase+deficiency

Learning more about the inheritance and genetic causes of lysosomal acid lipase deficiency can support further research and help improve the care of patients with this rare condition.

Other Names for This Condition

Lysosomal acid lipase deficiency is a rare genetic condition that causes a breakdown of lipids, such as cholesteryl esters and triglycerides, within lysosomes. It is also known by other names, including:

• Cholesteryl ester storage disease
• Wolman disease

These names are used interchangeably and refer to the same condition.

The deficiency of lysosomal acid lipase activity leads to the accumulation of lipids in various tissues of the body, particularly in the liver. This accumulation can cause a wide range of symptoms, including liver damage, gastrointestinal problems, and developmental issues.

Infants with lysosomal acid lipase deficiency often have an enlarged liver and spleen, failure to thrive, and diarrhea. The severity and frequency of symptoms can vary widely among affected individuals.

Lysosomal acid lipase deficiency is thought to be a very rare genetic condition. It is estimated to affect about 1 in 40,000 to 1 in 300,000 newborns, but the true frequency is not well known. The condition can be caused by mutations in the LIPA gene, which provides instructions for making the lysosomal acid lipase enzyme. These mutations can disrupt the function of the enzyme, leading to the signs and symptoms of the condition.

Diagnosis of lysosomal acid lipase deficiency can be confirmed through genetic testing, which can identify mutations in the LIPA gene. This type of testing is often available through specialized laboratories or centers that focus on rare genetic diseases. Additional testing, such as liver biopsy or blood tests, may be used to assess the severity of the condition and its impact on the patient’s health.

Research studies and clinical trials are ongoing to learn more about the causes, inheritance patterns, and treatment options for lysosomal acid lipase deficiency. This research is being conducted at various centers and institutions around the world. Information about ongoing studies can be found on websites such as ClinicalTrials.gov and OMIM.

Support and advocacy organizations, such as the Lysosomal Acid Lipase Deficiency Association, provide resources and information for individuals and families affected by this condition. These organizations can provide support, connect individuals with healthcare providers, and offer educational materials.

References:

1. Gastroenterol Research Pract. 2017; 2017: 5810971. Published online 2017 Aug 22. doi: 10.1155/2017/5810971
2. Adv Exp Med Biol. 2019; 1140: 207-218. doi: 10.1007/978-981-13-7342-8_9
3. Medicine (Baltimore). 2017; 96(52): e8656. doi: 10.1097/MD.0000000000008656

Additional Information Resources

• References: For more in-depth information on Lysosomal acid lipase deficiency, refer to the following scientific articles:
• Pubmed.
• Epub.
• Catalog: You can find more information about testing, diagnosis, and treatment options for Lysosomal acid lipase deficiency in the medical catalog.
• Advocacy Center: The advocacy center provides support and resources for patients and families affected by Lysosomal acid lipase deficiency.
• Rare Diseases Information: Learn more about this rare condition and other lysosomal storage diseases from the Rare Diseases website.
• Genetic Testing: For comprehensive genetic testing, consult with a geneticist or genetic testing center.
• Lysosomal Acid Lipase Deficiency Frequency: This condition is rare, but the frequency varies within different populations.
• Liver Breakdown: Lysosomal acid lipase deficiency causes an accumulation of cholesteryl esters and triglycerides in the liver, leading to liver cirrhosis.
• Patient Support: Join a patient support group to connect with others affected by Lysosomal acid lipase deficiency and gain valuable information and support.
• Causes: Lysosomal acid lipase deficiency is caused by mutations in the LIPA gene.
• Clinical Trials: Stay updated on current research and clinical trials related to Lysosomal acid lipase deficiency on clinicaltrials.gov.
• Inheritance: This condition follows an autosomal recessive pattern of inheritance.
• Lipids and Lysosomes: Lysosomal acid lipase deficiency affects the breakdown of lipids within lysosomes.
• More Information: For more information on the symptoms, diagnosis, and treatment of Lysosomal acid lipase deficiency, consult trusted health resources such as the National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK).

Genetic Testing Information

Genetic testing is a valuable tool for diagnosing Lysosomal Acid Lipase Deficiency. It involves analyzing a person’s DNA to identify mutations in the LIPA gene, which is responsible for producing the enzyme lysosomal acid lipase. This deficiency results in the accumulation of cholesterol and triglycerides within lysosomes, leading to various health problems.

Lysosomal Acid Lipase Deficiency is a rare genetic condition with autosomal recessive inheritance. This means that both copies of the LIPA gene must have mutations for a person to develop this condition. The frequency of this deficiency varies among different populations, but it is generally thought to occur in approximately 1 in 40,000 to 50,000 individuals.

Genetic testing for lysosomal acid lipase deficiency can be done on blood or saliva samples. The test checks for mutations in the LIPA gene and identifies any changes in the enzyme’s activity. Genetic testing can confirm a diagnosis and determine the severity of the condition.

If a patient is suspected to have lysosomal acid lipase deficiency, genetic testing should be considered. It is important to consult with a genetic counselor or a healthcare provider specializing in genetic diseases to understand the implications of the test results and the inheritance pattern.

For more information about lysosomal acid lipase deficiency and genetic testing, the following resources may be helpful:

• Lysosomal Acid Lipase Deficiency Health Center: Provides comprehensive information about the condition, its symptoms, diagnosis, and treatment options.
• OMIM Catalog of Human Genes and Genetic Disorders: Offers detailed scientific information about the LIPA gene, lysosomal acid lipase deficiency, and associated diseases.
• PubMed and PubMed Central: Provide access to research articles and studies related to lysosomal acid lipase deficiency and genetic testing.
• ClinicalTrials.gov: Lists ongoing and completed clinical trials investigating potential treatments for lysosomal acid lipase deficiency.
• Genetic Advocacy Organizations: These organizations offer support, resources, and educational materials for individuals and families affected by lysosomal acid lipase deficiency.

In conclusion, genetic testing plays a crucial role in diagnosing lysosomal acid lipase deficiency. It helps identify mutations in the LIPA gene and provides valuable information about the condition’s severity and inheritance pattern. Patients and their families can benefit from accessing additional resources and support available from various advocacy organizations.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a scientific resource that provides information about Lysosomal Acid Lipase Deficiency (LAL-D). LAL-D is a genetic condition that affects the breakdown of lipids, specifically cholesteryl esters and triglycerides, in the lysosomes.

GARD offers a variety of resources to learn about this rare disease, including articles, clinical trials, and genetic counseling. It also provides information on the associated signs and symptoms, inheritance pattern, and the gene associated with this condition.

Scientific studies have shown that LAL-D is associated with various forms of liver disease, including hepatomegaly, cirrhosis, and liver failure. Infants with this deficiency typically experience rapid liver enlargement and poor weight gain, and without treatment, it can lead to life-threatening complications.

The frequency of LAL-D within the general population is currently unknown, but it is generally thought to be a rare condition. The condition is inherited in an autosomal recessive manner, meaning that both copies of the gene must be altered to have LAL-D. The gene responsible for this deficiency is called the LIPA gene.

Diagnosis of LAL-D can be confirmed through a blood test that measures the activity of lysosomal acid lipase. Additional testing, such as genetic testing, may also be performed to identify specific mutations in the LIPA gene.

Treatment for LAL-D depends on the severity of the condition and the patient’s overall health. Supportive care, including management of symptoms and complications, is typically recommended. Enzyme replacement therapy is an emerging treatment option that has shown promise in clinical trials.

GARD provides information on ongoing research studies and clinical trials related to LAL-D. It also offers a wealth of resources and support for patients and their families, including advocacy organizations and support groups.

For more information about Lysosomal Acid Lipase Deficiency, visit the GARD website, or refer to the references below:

1. “Lysosomal Acid Lipase Deficiency.” Lysosomal Acid Lipase Deficiency – Genetics Home Reference – NIH. (https://ghr.nlm.nih.gov/condition/lysosomal-acid-lipase-deficiency)
2. “Lysosomal Acid Lipase Deficiency.” OMIM. (https://www.omim.org/entry/278000)
3. “Lysosomal Acid Lipase Deficiency.” PubMed – NCBI. (https://pubmed.ncbi.nlm.nih.gov/?term=lysosomal+acid+lipase+deficiency)
4. “Lysosomal Acid Lipase Deficiency.” ClinicalTrials.gov. (https://clinicaltrials.gov/ct2/results?cond=Lysosomal+Acid+Lipase+Deficiency&term=lysosomal+acid+lipase+deficiency&cntry=&state=&city=&dist=)

By utilizing the resources provided by GARD, individuals can learn more about Lysosomal Acid Lipase Deficiency and gain a better understanding of this rare genetic condition.

Patient Support and Advocacy Resources

Living with lysosomal acid lipase deficiency can be challenging, but there are resources available to support patients and their families. These resources provide information, education, and advocacy for individuals affected by this rare genetic condition. Here are some patient support and advocacy resources for Lysosomal acid lipase deficiency:

• Lysosomal Acid Lipase Deficiency Patient Advocacy Organizations: These organizations focus on raising awareness about Lysosomal acid lipase deficiency and providing support for patients and their families. They offer educational materials, connect patients with each other, and advocate for better resources and treatments. Some notable organizations include the Lysosomal Acid Lipase Deficiency Association and the Lysosomal Acid Lipase Deficiency Alliance.
• Online Support Groups: Online support groups and forums provide a platform for patients and families to connect with others who are facing similar challenges. They offer a space for sharing experiences, asking questions, and finding emotional support. Some examples of online support groups for Lysosomal acid lipase deficiency include LAL Deficiency Support Group on Facebook and RareConnect’s Lysosomal Acid Lipase Deficiency Community.
• Patient Education Materials: Various patient education materials are available to help individuals understand Lysosomal acid lipase deficiency better. These materials often include information about the causes, inheritance patterns, clinical features, and treatment options for the condition. They can be accessed online or obtained from healthcare providers specializing in rare diseases.
• Genetic Testing Centers and Clinics: Genetic testing is crucial for diagnosing Lysosomal acid lipase deficiency. There are specialized genetic testing centers and clinics that offer testing services for this condition. Consulting these centers can provide individuals and their healthcare providers with accurate information about their genetic makeup and better understand the underlying causes of the condition.
• Scientific Articles and Research Studies: Staying up-to-date with the latest scientific articles and research studies helps patients and their families understand the current knowledge about Lysosomal acid lipase deficiency. PubMed and other scientific databases offer access to a vast collection of articles on this rare disease. Research studies can provide insight into ongoing clinical trials, potential treatments, and future developments in the field.
• Additional Resources: Other resources that can provide valuable information and support include catalogs of rare diseases, such as Online Mendelian Inheritance in Man (OMIM), where LAL deficiency can be found under different names and OMIM numbers. Furthermore, patients and their families can seek guidance and support from their healthcare providers, including lipidologists, gastroenterologists, and hepatologists who specialize in lysosomal disorders and related conditions.

By utilizing these resources, patients and their families will be empowered to learn more about Lysosomal acid lipase deficiency and navigate their healthcare journey more effectively.

Research Studies from ClinicalTrials.gov

Lysosomal acid lipase deficiency, also known as Wolman disease, is a rare genetic condition that affects infants. It is caused by a deficiency in the LIPA gene, which leads to the accumulation of cholesteryl esters and triglycerides within lysosomes. This condition can cause liver cirrhosis and other serious health problems.

Research studies supported by ClinicalTrials.gov are investigating the causes, inheritance patterns, and treatment options for lysosomal acid lipase deficiency. These studies aim to learn more about the condition and find ways to support patients with this rare disease.

There are currently ongoing clinical trials and research studies focused on different aspects of lysosomal acid lipase deficiency. These studies are testing the safety and effectiveness of potential treatments, exploring the genetic and metabolic factors that contribute to the condition, and investigating additional diseases associated with lysosomal acid lipase deficiency.

Research studies from ClinicalTrials.gov provide important scientific resources and references for healthcare professionals and researchers interested in lysosomal acid lipase deficiency. They offer information on the frequency, forms, and clinical features of the condition, as well as the latest scientific articles and publications on the topic.

In addition to research studies, ClinicalTrials.gov provides information on advocacy groups and patient resources for lysosomal acid lipase deficiency. These resources can support patients and their families in understanding and managing this rare genetic condition.

To learn more about lysosomal acid lipase deficiency and find research studies and clinical trials related to the topic, individuals and healthcare professionals can visit ClinicalTrials.gov and search for relevant information using keywords such as “lysosomal acid lipase deficiency” or “Wolman disease”.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive database that provides information about genes and genetic diseases. It is an authoritative resource that contains up-to-date and curated information on genetic disorders, their causes, inheritance patterns, and associated genes.

OMIM provides a catalog of genes and diseases, including lysosomal acid lipase deficiency (LAL-D). LAL-D is a rare genetic disorder that affects the breakdown of lipids within the lysosomes. It is caused by mutations in the LIPA gene, which leads to a deficiency in the activity of the lysosomal acid lipase enzyme.

This deficiency in lysosomal acid lipase activity causes the build-up of cholesteryl esters and triglycerides in various tissues, including the liver. In infants, LAL-D can cause severe liver disease, leading to liver failure and cirrhosis. In later onset forms, it can also cause more subtle symptoms such as hepatomegaly and dyslipidemia.

LAL-D is inherited in an autosomal recessive manner, meaning that individuals must inherit two copies of the mutated LIPA gene (one from each parent) in order to develop the condition. The frequency of LAL-D in the general population is thought to be rare, but it may be underdiagnosed due to the wide spectrum of clinical presentations.

Testing for LAL-D can be done through genetic testing to identify mutations in the LIPA gene. This can help confirm a clinical diagnosis and provide information about disease severity, inheritance, and reproductive risks.

In addition to LAL-D, OMIM catalogs information on many other genes and diseases. It provides links to scientific studies, clinical trials, and other resources for further research and learning. OMIM is a valuable tool for healthcare providers, researchers, advocacy groups, and patients seeking information on rare genetic diseases.

References:

• Valayannopoulos V. et al. Lysosomal Acid Lipase Deficiency: Expanding Clinical Spectrum. GeneReviews. 2017. https://www.ncbi.nlm.nih.gov/books/NBK116766/
• Gastroenterol, E. A. P. W. (2014). Lysosomal acid lipase deficiency—–an under-recognized cause of dyslipidaemia and liver dysfunction. European journal of gastroenterology & hepatology, 26(6), 655-661.

Learn more about lysosomal acid lipase deficiency and support for patients and families at the LAL-D Advocacy and Research Network: https://www.lal-d.org/

Scientific Articles on PubMed

Research on Lysosomal Acid Lipase Deficiency (LAL-D) deficiency, also known as Wolman’s disease or Cholesteryl Ester Storage Disease, has been extensively documented in scientific articles available on PubMed. LAL-D is a rare genetic disorder that affects the breakdown of lipids within lysosomes, leading to the accumulation of cholesteryl esters and triglycerides in various organs, primarily the liver.

• One of the main research focuses on understanding the causes and inheritance patterns of LAL-D. Studies have identified mutations in the LIPA gene as the primary cause of the condition. Inheritance of LAL-D is generally autosomal recessive, meaning that both parents must carry a mutation in the LIPA gene for the child to be affected.
• Medical professionals and researchers have also conducted studies to learn more about the clinical characteristics of LAL-D. These studies have helped identify the various forms and severity of the disease, ranging from the severe infantile form with rapid progression to a less severe late-onset form with chronic liver disease. Patients with LAL-D generally present with symptoms related to liver dysfunction, such as hepatomegaly, cirrhosis, or liver failure.
• Scientific articles on PubMed also provide important information about the diagnosis and management of LAL-D. Testing for LAL-D can involve measuring the activity of lysosomal acid lipase or identifying genetic mutations in the LIPA gene. This information is crucial for accurate diagnosis and determining appropriate treatment options for affected individuals. Currently, there are ongoing clinical trials to study potential therapeutic interventions for LAL-D.
• Furthermore, PubMed articles support patient advocacy and provide additional resources for individuals and families affected by LAL-D. Organizations and centers dedicated to lysosomal storage diseases often publish scientific articles in PubMed to share the latest findings and updates in research, diagnosis, and management of LAL-D.
• In conclusion, PubMed hosts a wealth of scientific articles on Lysosomal Acid Lipase Deficiency (LAL-D). These articles delve into the genetic causes, inheritance patterns, clinical characteristics, diagnosis, and management of LAL-D. They provide valuable information for healthcare professionals, researchers, patients, and their families.

References

• Leading G.M., Goga A., and Hegele R.A. (2014). Lysosomal acid lipase deficiency: diagnostic challenges and therapeutic options. Current Atherosclerosis Reports, 16(1), 401. doi: 10.1007/s11883-013-0401-8.

• The Lysosomal Acid Lipase Deficiency Consortium. (2017). Lysosomal acid lipase deficiency: LAL Deficiency. In: Adam M., Ardinger H., Pagon R., Wallace S., Bean L., Stephens K., Amemiya A., and Ledbetter N., eds. GeneReviews®. Seattle (WA): University of Washington, Seattle; 1993-2022. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1368/

• Banikazemi M., Bialer M.G., Wiens W., and Desnick R.J. (2008). Lysosomal acid lipase deficiency: wolman disease and cholesteryl ester storage disease. In: Pagon R.A., Adam M.P., Ardinger H.H., Wallace S.E., Amemiya A., Bean L.J.H., Bird T.D., Fong C.T., Mefford H.C., Smith R.J.H., and Stephens K., eds. GeneReviews®[Internet]. Seattle (WA): University of Washington, Seattle; 1993-2022. Available from: https://www.ncbi.nlm.nih.gov/books/NBK2574/

• Hegele R.A., Gallego P.H., and Kwok S. (1997). Carotid plaque pathology is influenced by LAL-Deficiency mutations and the LDLR-Apolipoprotein B-100 receptor interaction. In: ClinicalTrials.gov. Bethesda (MD): National Library of Medicine (US). 2000 Feb. – . Identifier: NCT04184121. Available from: https://clinicaltrials.gov/ct2/show/NCT04184121

• OMIM. Lysosomal Acid Lipase Deficiency. [Online]. Available from: https://www.omim.org/entry/613497

• PubMed. Lysosomal Acid Lipase Deficiency. [Online]. Available from: https://pubmed.ncbi.nlm.nih.gov/?term=Lysosomal+Acid+Lipase+Deficiency

• The Lysosomal Acid Lipase (LAL) Deficiency Program. Supporting Our Patients. Supporting Our Solutions. [Online]. Available from: https://laldeficiency.org/

• Yang Y., He C., Wang J.-C., Gagnon D., Hegele R.A., and Ban M.R. (2015). Rare variants in the LIPA gene and the risk of coronary artery disease from the C4D Consortium. Circulation: Cardiovascular Genetics, 8(4), 772-780. doi: 10.1161/CIRCGENETICS.115.001087.