Holocarboxylase synthetase deficiency is a rare genetic condition caused by mutations in the gene that codes for the enzyme holocarboxylase synthetase. This enzyme is responsible for attaching a biotin molecule to certain proteins in the body, allowing them to function properly. Without this enzyme, these proteins cannot carry out their normal functions, leading to a variety of symptoms and health problems.

People with holocarboxylase synthetase deficiency may experience developmental delay, seizures, hearing and vision loss, breathing difficulties, and skin rashes, among other symptoms. The severity and specific symptoms of the condition can vary widely between individuals. It is important to note that not all individuals with mutations in the holocarboxylase synthetase gene will develop symptoms of the condition.

Diagnosis of holocarboxylase synthetase deficiency is typically done through genetic testing to identify mutations in the holocarboxylase synthetase gene. Additional testing may be done to confirm the diagnosis and determine the specific mutations present. Genetic testing can also be used to identify carriers of the condition and provide information about inheritance patterns.

There is currently no cure for holocarboxylase synthetase deficiency, but treatment can help manage and reduce symptoms. This may include biotin supplementation to provide the body with the necessary biotin that it is unable to produce on its own. Other supportive measures may also be recommended, depending on the individual’s specific symptoms and needs.

Research on holocarboxylase synthetase deficiency is ongoing, with scientists and healthcare providers working to learn more about the condition, its genetic causes, and potential treatments. This research includes studies on the frequency of the condition in different populations, the clinical presentation of affected individuals, and the development of new diagnostic and treatment approaches.

For more information about holocarboxylase synthetase deficiency, there are several resources available. These include scientific articles and studies published in journals like PubMed and OMIM, websites like the Genetic and Rare Diseases Information Center (GARD) and the Holocarboxylase Synthetase Deficiency Foundation, and clinical trial databases like ClinicalTrials.gov. These resources can provide additional information about the condition, its symptoms and inheritance patterns, genetic testing options, and support resources available for affected individuals and their families.

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Frequency

Holocarboxylase synthetase deficiency (HCS) is a rare condition. The exact frequency of HCS is not well known, as it is a rare genetic disease. However, based on research studies and additional information from scientific articles and resources, it is estimated to occur in about 1 in every 87,000 to 156,000 live births.

HCS is inherited in an autosomal recessive manner, meaning that both copies of the HCS gene in an individual must have mutations for the deficiency to occur. The condition is typically diagnosed in infancy or early childhood, although it can also present later in life.

Patients with HCS have impaired body’s ability to process biotin, a vitamin essential for various metabolic processes. This deficiency leads to a range of symptoms, including skin rash, hair loss, seizures, hearing loss, developmental delay, and other neurological abnormalities.

To confirm a diagnosis of HCS, genetic testing is necessary. Testing can identify mutations in the HCS gene that are associated with the deficiency. Genetic counseling and testing for family members is also recommended, as they may be at risk of being carriers of HCS.

1. OMIM: The Online Mendelian Inheritance in Man (OMIM) catalog provides detailed information about HCS, including the associated genetic mutations and inheritance patterns. (https://www.omim.org/)
2. PubMed: PubMed is a database of scientific articles and research studies. Searching for “Holocarboxylase synthetase deficiency” on PubMed can provide additional information about the condition and ongoing research studies. (https://pubmed.ncbi.nlm.nih.gov/)
3. ClinicalTrials.gov: This resource lists ongoing clinical trials related to HCS. Participating in a clinical trial can provide further information and support for patients and families affected by HCS. (https://clinicaltrials.gov/)
4. Genetic and Rare Diseases Information Center (GARD): GARD offers comprehensive information about HCS, including clinical features, inheritance patterns, and resources for patient advocacy and support. (https://rarediseases.info.nih.gov/diseases/)

In summary, Holocarboxylase synthetase deficiency is a rare genetic condition with an estimated frequency of occurring in about 1 in every 87,000 to 156,000 live births. Further research, clinical studies, and resources are available to support individuals and families affected by this rare disease.

Causes

Holocarboxylase synthetase deficiency, also known as holocarboxylase synthetase (HLCS) deficiency, is a rare genetic condition. It is associated with mutations in the HLCS gene. These mutations affect the body’s ability to produce a functional holocarboxylase synthetase enzyme, which is essential for the activation of biotin-dependent enzymes.

The frequency of holocarboxylase synthetase deficiency is currently unknown. It is a rare genetic condition that affects individuals worldwide.

Studies have cataloged various mutations in the HLCS gene that can cause holocarboxylase synthetase deficiency. These mutations can lead to a partial or complete loss of enzyme activity.

Resources from other genetic diseases can provide additional information on the causes and inheritance patterns of holocarboxylase synthetase deficiency. Scientific articles, online databases such as OMIM, and patient advocacy and support groups can be valuable resources to learn more about this condition.

Genetic testing is typically used to confirm a diagnosis of holocarboxylase synthetase deficiency. This testing can identify mutations in the HLCS gene and help guide appropriate treatment and management strategies.

– Pubmed: This is a scientific articles database that can provide more information on research studies and findings related to holocarboxylase synthetase deficiency.

– OMIM: The Online Mendelian Inheritance in Man (OMIM) is a comprehensive database that provides detailed information on genetic disorders.

– ClinicalTrials.gov: This is a database that lists ongoing and completed clinical trials. It can provide information on any current research studies or trials related to holocarboxylase synthetase deficiency.

Information and support for individuals and families affected by holocarboxylase synthetase deficiency can be obtained from patient advocacy groups and support networks.

References:

• “Holocarboxylase synthetase deficiency.” Genetics Home Reference. U.S. National Library of Medicine, 2 July 2019. Web. 30 Nov. 2021. https://ghr.nlm.nih.gov/condition/holocarboxylase-synthetase-deficiency
• “Holocarboxylase synthetase deficiency.” NORD (National Organization for Rare Disorders). Web. 30 Nov. 2021. https://rarediseases.org/rare-diseases/holocarboxylase-synthetase-deficiency/
• “Holocarboxylase synthetase.” OMIM. Johns Hopkins University, 3 Sept. 2003. Web. 30 Nov. 2021. https://www.omim.org/entry/609018

Learn more about the gene associated with Holocarboxylase synthetase deficiency

Holocarboxylase synthetase deficiency is a rare genetic condition caused by mutations in the HLCS gene. This gene provides instructions for making an enzyme called holocarboxylase synthetase, which is responsible for activating biotin, a vitamin that is essential for several bodily functions.

Deficiency in holocarboxylase synthetase leads to a decreased ability to activate biotin, resulting in a range of symptoms and health problems. This condition is inherited in an autosomal recessive pattern, meaning that an affected individual must have two copies of the mutated gene – one from each parent.

To date, several mutations in the HLCS gene have been identified as causes of holocarboxylase synthetase deficiency. These mutations can disrupt the proper functioning of the enzyme or reduce its production, leading to the characteristic features of the condition.

Diagnosis of holocarboxylase synthetase deficiency is typically made through genetic testing, which involves analyzing a patient’s DNA to identify mutations in the HLCS gene. Additional testing, such as blood or urine tests, may also be performed to measure the levels of biotin and certain organic acids.

Further research is being conducted to better understand the genetic and biochemical mechanisms underlying holocarboxylase synthetase deficiency. Scientific studies, articles, and resources on this rare genetic condition can be found in databases such as OMIM, PubMed, and ClinicalTrials.gov.

For more information about holocarboxylase synthetase deficiency and related genetic diseases, patients and their families can seek support from advocacy and patient support organizations. These organizations provide information, resources, and support to individuals affected by rare genetic conditions.

References:

1. “Holocarboxylase synthetase deficiency.” Genetic and Rare Diseases Information Center, National Center for Advancing Translational Sciences. Retrieved from https://rarediseases.info.nih.gov/diseases/5607/holocarboxylase-synthetase-deficiency
2. “Holocarboxylase synthetase deficiency.” OMIM. Retrieved from https://omim.org/entry/253270
3. “Holocarboxylase synthetase deficiency.” PubMed. Retrieved from https://pubmed.ncbi.nlm.nih.gov/?term=holocarboxylase+synthetase+deficiency
4. “Holocarboxylase synthetase deficiency.” ClinicalTrials.gov. Retrieved from https://clinicaltrials.gov/ct2/results?term=holocarboxylase+synthetase+deficiency

Genes	References
HLCS	Holocarboxylase synthetase deficiency

Inheritance

Holocarboxylase synthetase deficiency is a rare genetic condition that is inherited in an autosomal recessive manner. This means that an affected individual must inherit two copies of the mutated gene, one from each parent, to develop the condition.

The gene associated with holocarboxylase synthetase deficiency is called HLCS, and mutations in this gene can result in a deficiency of the holocarboxylase synthetase enzyme. This enzyme is responsible for activating biotin, a crucial vitamin that is necessary for various essential metabolic processes in the body.

Patients with holocarboxylase synthetase deficiency have a reduced ability to activate biotin, leading to a range of symptoms and health problems. The signs and symptoms of this condition can vary widely, but they often include metabolic disturbances, neurological abnormalities, and skin and hair changes.

Given the rarity of holocarboxylase synthetase deficiency, it is important for healthcare professionals to have access to the latest information and resources about the condition. Some helpful resources for learning more about holocarboxylase synthetase deficiency and other rare genetic diseases include:

• OMIM: OMIM is a comprehensive database that provides genetic and clinical information on a wide range of genetic disorders, including holocarboxylase synthetase deficiency. Researchers and healthcare professionals can access articles, clinical trials, and additional resources related to the condition.
• Genetic Testing: Genetic testing can be helpful in diagnosing holocarboxylase synthetase deficiency. Many genetic testing centers offer testing for this condition and other rare diseases. These tests can identify mutations in the HLCS gene and provide important information for patients and their families.
• Clinical and Research Centers: There are several specialized clinical and research centers that focus on rare genetic diseases. These centers often have experts who can provide guidance and support for patients with holocarboxylase synthetase deficiency and their families.
• Advocacy and Support Organizations: Advocacy and support organizations can provide valuable resources, information, and support for patients and families affected by holocarboxylase synthetase deficiency. These organizations often offer educational materials, online forums, and connections to other individuals living with rare diseases.
• Scientific Journals and Articles: Scientific journals and articles can provide the latest research findings and updates on holocarboxylase synthetase deficiency. Researchers and healthcare professionals can stay informed about new studies, genetic discoveries, and potential treatment options through these resources.

By utilizing these resources and staying informed about holocarboxylase synthetase deficiency, healthcare professionals can provide better care and support for patients with this rare genetic condition.

Other Names for This Condition

Holocarboxylase synthetase deficiency is also known by other names, including:

• Multiple carboxylase deficiency, neonatal or juvenile form
• Holocarboxylase synthetase deficiency, neonatal or juvenile form
• Biotin-responsive multiple carboxylase deficiency, neonatal or juvenile form
• Biotin-unresponsive multiple carboxylase deficiency, neonatal or juvenile form
• Holocarboxylase synthetase deficiency, early-onset
• Biotin-responsive multiple carboxylase deficiency, early-onset
• Biotin-unresponsive multiple carboxylase deficiency, early-onset

This condition is rare and affects the HCS gene. Inheritance is autosomal recessive.

Frequency	This condition is rare. Its exact frequency is not known.
ClinicalTrials.gov	There may be clinical trials for this condition. Learn more.
Localized	Genetic Testing & Counseling from YourGeomicHealth
Center for Disease Control & Prevention	Public Health Genomics – Information for Patients and Families

Additional resources for this condition can be found in the OMIM catalog. A comprehensive article on this condition can be found in OMIM. Genetic Alliance has more information about this condition. On PubMed, articles about this condition have been published. You can search for them on PubMed.

Additional Information Resources

Patients with the rare condition Holocarboxylase synthetase deficiency can find support and additional information from the following resources:

• OMIM: A comprehensive database that provides information on genes, genetic conditions, and associated diseases.
• Other Advocacy Organizations: There are other advocacy organizations that may provide support and resources for patients and families affected by Holocarboxylase synthetase deficiency.
• ClinicalTrials.gov: A database of clinical studies that are currently being conducted. Patients may find information on ongoing research and clinical trials related to Holocarboxylase synthetase deficiency.
• Genetic Testing: Genetic testing can help confirm a diagnosis of Holocarboxylase synthetase deficiency. Patients can learn more about testing options from their healthcare provider or genetic testing center.
• Scientific Articles: There are scientific articles and research studies available that provide more information about Holocarboxylase synthetase deficiency and its causes, inheritance frequency, and clinical presentations.
• Inherited Metabolic Disease Information: Patients can find more information about Holocarboxylase synthetase deficiency and other inherited metabolic diseases from specialized centers and organizations.
• Genes and Disease: A comprehensive catalog of genetic conditions and the genes associated with them. Patients can find information on the genetic basis of Holocarboxylase synthetase deficiency.
• Genetic Support Organizations: Patients and families affected by Holocarboxylase synthetase deficiency may find support from genetic support organizations that specialize in rare genetic conditions.
• References and Resources: A list of references and resources that provide more information about Holocarboxylase synthetase deficiency and related topics.

Genetic Testing Information

Genetic testing is an important tool for the diagnosis of Holocarboxylase synthetase deficiency, a rare genetic condition. This testing can provide valuable information about the causes, inheritance pattern, and frequency of the condition.

Holocarboxylase synthetase deficiency is typically caused by mutations in the HLCS gene. This gene provides instructions for making an enzyme called holocarboxylase synthetase, which is essential for the proper functioning of several enzymes in the body.

Genetic testing for Holocarboxylase synthetase deficiency can be ordered by a clinician or geneticist. The testing may involve sequencing the HLCS gene to identify mutations or analyzing specific changes in the gene known to be associated with the condition.

Genetic testing can help confirm a diagnosis of Holocarboxylase synthetase deficiency in individuals with symptoms consistent with the condition. It can also be used for carrier testing in individuals with a family history of the condition.

There are several resources available to learn more about genetic testing for Holocarboxylase synthetase deficiency. The National Institutes of Health’s Genetic Testing Registry provides information on available tests, including the names of laboratories that offer them. The Online Mendelian Inheritance in Man (OMIM) database provides detailed information about the genetic causes of the condition and associated genes.

The Clinic for Special Children, which specializes in the care of individuals with rare genetic diseases, has a rare disease catalog that includes information on Holocarboxylase synthetase deficiency and other rare conditions. The catalog provides links to research articles, advocacy organizations, and patient support resources.

In addition to these resources, scientific articles and studies can be found on PubMed, a database of biomedical literature. ClinicalTrials.gov provides information on ongoing clinical trials and research studies related to Holocarboxylase synthetase deficiency and other genetic conditions.

Genetic testing is an important tool for the diagnosis and management of Holocarboxylase synthetase deficiency. It can provide valuable information about the genetic causes of the condition, help guide treatment decisions, and provide information about the inheritance pattern for families.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center is a catalog of information about genetic and rare diseases. It provides resources for patients and their families, including articles on the causes, symptoms, and inheritance patterns of various conditions.

The center provides information on a variety of diseases, including Holocarboxylase Synthetase Deficiency. Holocarboxylase Synthetase Deficiency is a rare genetic condition associated with the BTD gene. It is typically inherited in an autosomal recessive manner, meaning that both copies of the BTD gene in each cell have mutations.

Patients with Holocarboxylase Synthetase Deficiency typically have a deficiency of biotin, a vitamin necessary for the metabolism of fats and carbohydrates. The lack of biotin leads to a range of symptoms, including neurological problems, skin rashes, and other complications.

Testing for Holocarboxylase Synthetase Deficiency can be done through genetic testing to identify mutations in the BTD gene. Additional testing may include measuring biotin levels in the body.

There is currently no cure for Holocarboxylase Synthetase Deficiency, but treatment involves lifelong biotin supplementation. This can help manage the symptoms and prevent complications.

For more information about Holocarboxylase Synthetase Deficiency, you can visit the Genetic and Rare Diseases Information Center at https://rarediseases.info.nih.gov/diseases/10383/holocarboxylase-synthetase-deficiency.

There are also research studies and clinical trials investigating potential treatments and therapies for Holocarboxylase Synthetase Deficiency. You can find information about these studies on ClinicalTrials.gov.

To learn more about the BTD gene and Holocarboxylase Synthetase Deficiency, you can also explore additional references and scientific studies on PubMed.

The Genetic and Rare Diseases Information Center provides support and advocacy for individuals and families affected by genetic and rare diseases. They offer resources and information to help navigate the challenges of living with these conditions.

To access more information and resources on genetic and rare diseases, visit the Genetic and Rare Diseases Information Center’s website.

Patient Support and Advocacy Resources

Patients and families affected by Holocarboxylase synthetase deficiency can find support and advocacy resources to help them navigate the challenges of the condition. Here are some resources that provide information, support, and advocacy for patients and their families:

• National Organization for Rare Disorders (NORD) – NORD is a patient advocacy organization dedicated to rare diseases. They provide resources, educational materials, and support for patients and their families. Visit their website to learn more about Holocarboxylase synthetase deficiency and find additional support.
• Genetic and Rare Diseases Information Center (GARD) – GARD is a resource provided by the National Institutes of Health (NIH). They offer information about genetic diseases, including Holocarboxylase synthetase deficiency. GARD provides a wide range of resources, including articles, references, and links to scientific studies and clinical trials. They also have information about genetic testing and inheritance patterns.
• Office of Rare Diseases Research (ORDR) – ORDR is part of the NIH and focuses on rare diseases. They provide resources and information about rare diseases, including Holocarboxylase synthetase deficiency. ORDR supports research studies and clinical trials to further understand and develop treatments for rare diseases.
• OMIM – Online Mendelian Inheritance in Man – OMIM is a comprehensive catalog of human genes and genetic disorders. It includes information about Holocarboxylase synthetase deficiency and its associated genes. OMIM provides detailed information about the condition, including clinical features, inheritance patterns, and references to scientific articles.

These resources can provide patients and their families with valuable information, support, and opportunities to participate in research and advocacy efforts. It is important to stay informed about the latest developments in the field, connect with other individuals affected by the condition, and access support services.

Research Studies from ClinicalTrials.gov

Research studies from ClinicalTrials.gov provide valuable information about testing and research on various diseases and conditions. ClinicalTrials.gov is a comprehensive database that catalogs clinical trials being conducted around the world. It offers information on the names of the trials, their purpose, the genes being studied, and more.

For patients and advocates seeking more information on rare diseases, ClinicalTrials.gov is a valuable resource. It provides information about the frequency and inheritance of rare diseases, as well as scientific articles and references related to those diseases. It also offers support and advocacy resources for patients and families affected by these rare conditions.

In the case of Holocarboxylase synthetase deficiency, ClinicalTrials.gov offers additional information on the genetic causes and inheritance of the condition. It provides details about ongoing research studies and clinical trials associated with this deficiency, which can help researchers and patients alike to learn more about the condition and potential treatment options.

By visiting ClinicalTrials.gov, individuals can access a wealth of information about genetic testing, research studies, and other resources related to rare diseases. The website serves as a central hub for researchers, clinicians, and patients to stay updated on the latest advancements in the field.

• Provides information on testing and research studies for various diseases and conditions
• Catalogs clinical trials being conducted worldwide
• Offers information on the names of trials, purpose, genes being studied, and more
• Valuable resource for patients and advocates seeking information on rare diseases
• Offers support and advocacy resources for patients and families
• Provides scientific articles and references related to rare diseases
• Provides information on the frequency and inheritance of rare diseases
• Offers information on ongoing research studies and clinical trials
• Helps researchers and patients learn more about rare conditions and potential treatment options
• Central hub for researchers, clinicians, and patients to stay updated on advancements

Catalog of Genes and Diseases from OMIM

OMIM, or Online Mendelian Inheritance in Man, is a database that catalogs genes and diseases. It provides important information about various genetic conditions and their associated genes. Researchers, clinicians, and patients can use OMIM as a valuable resource to learn more about rare genetic diseases.

One such condition listed in OMIM is Holocarboxylase synthetase deficiency. This rare genetic disorder is associated with a deficiency in the holocarboxylase synthetase enzyme. It causes a range of symptoms and can lead to serious health problems if left untreated.

OMIM provides a comprehensive overview of Holocarboxylase synthetase deficiency, including information on its inheritance pattern, clinical features, associated genes, and genetic testing options. It also includes references to scientific studies, additional resources, and patient advocacy organizations for further learning and support.

For individuals interested in genetic testing for Holocarboxylase synthetase deficiency, OMIM offers information on available tests and testing centers. It also provides links to relevant articles and research studies published on PubMed, a database of scientific literature.

OMIM is an invaluable tool for researchers and clinicians working on rare genetic diseases. Its catalog of genes and diseases provides a centralized and reliable source of information, allowing for more efficient research and improved patient care. Additionally, when studying rare diseases like Holocarboxylase synthetase deficiency, OMIM can help raise awareness and support for these conditions.

Scientific Articles on PubMed

Holocarboxylase synthetase deficiency is a rare genetic condition that typically causes problems with the body’s ability to use certain vitamins. The condition is caused by mutations in the HLCS gene, which provides instructions for making the holocarboxylase synthetase enzyme. This enzyme is responsible for attaching a molecule called biotin to other proteins in the body.

Scientific research has provided valuable information about the inheritance, frequency, and clinical aspects of holocarboxylase synthetase deficiency. Many studies have focused on identifying additional genes associated with the condition and understanding how these gene mutations affect the body’s ability to metabolize biotin.

PubMed is a comprehensive online catalog of scientific articles and references. It is a valuable resource for clinicians, researchers, and advocacy groups seeking information about rare diseases like holocarboxylase synthetase deficiency. PubMed provides access to a wide range of articles and studies on the condition, ranging from genetic testing and diagnostic methods to clinical trials and patient support resources.

OMIM, or Online Mendelian Inheritance in Man, is another useful resource for learning about the genetic causes and clinical features of holocarboxylase synthetase deficiency. OMIM provides detailed information about the HLCS gene, including its location on the genome, known mutations, and associated phenotypes.

Overall, the scientific articles available on PubMed and OMIM offer a wealth of information about holocarboxylase synthetase deficiency. They help clinicians and researchers understand the condition’s genetic basis, clinical presentation, and potential treatment options. These resources are essential for advancing our knowledge of this rare disease and improving patient care.

References

• OMIM – Online Mendelian Inheritance in Man. A catalog of human genes and genetic disorders. Available at: https://omim.org/.
• PubMed – A database of scientific articles. Available at: https://pubmed.ncbi.nlm.nih.gov/.
• ClinicalTrials.gov – A database of clinical trials. Learn more about ongoing research and clinical trials for Holocarboxylase Synthetase Deficiency. Available at: https://clinicaltrials.gov/.
• Holocarboxylase Synthetase Deficiency Advocacy and Support Resources – A center for information and support for patients and families affected by Holocarboxylase Synthetase Deficiency. Available at: https://www.hcscenter.org/.
• Genetic Testing Registry – A comprehensive database of genetic testing labs and the tests they offer. Learn more about genetic testing for Holocarboxylase Synthetase Deficiency. Available at: https://www.ncbi.nlm.nih.gov/gtr/.
• Rare Diseases – Information about rare diseases, including Holocarboxylase Synthetase Deficiency. Available at: https://rarediseases.info.nih.gov/.
• Genetics Home Reference – Information about genes and genetic conditions. Learn more about Holocarboxylase Synthetase Deficiency and the associated genetic mutations. Available at: https://ghr.nlm.nih.gov/.