Biotinidase deficiency – Austra Health

Biotinidase deficiency is a rare genetic condition that affects the body’s ability to process biotin, a vitamin essential for the breakdown of certain substances in the body. This condition is inherited in an autosomal recessive manner, meaning that individuals must inherit two copies of the mutated gene to develop the disease.

People with biotinidase deficiency have mutations in the BTD gene, which is responsible for producing the biotinidase enzyme. Without this enzyme, the body cannot effectively use biotin, leading to a buildup of toxic substances and a deficiency of biotin in the body. This can cause a range of symptoms, including skin rash, hair loss, seizures, developmental delay, and hearing loss.

Biotinidase deficiency is diagnosed through genetic testing, which can identify the specific mutations in the BTD gene. Early diagnosis and treatment are crucial for managing the disease and preventing long-term complications. Treatment involves taking biotin supplements to correct the deficiency and manage symptoms.

Additional resources and support for people with biotinidase deficiency and their families can be found through organizations such as the Biotinidase Deficiency Family Support Group and the National Organization for Rare Disorders (NORD). These organizations provide information, advocacy, and resources for individuals and families affected by this rare condition.

Research studies, clinical trials, and scientific articles on biotinidase deficiency can be found on websites such as PubMed, OMIM, and ClinicalTrials.gov. These resources provide valuable information on the causes, inheritance patterns, frequency, and management of this condition.

Further research and scientific advancements are needed to better understand biotinidase deficiency and develop more effective treatments. By raising awareness and supporting research efforts, we can improve outcomes for individuals with this rare genetic disease.

Frequency

Biotinidase deficiency is a rare genetic disease. It occurs with a frequency of approximately 1 in 60,000 newborns in the general population.

The Center for Information & Study on Clinical Research Participation (CISCRP) reports that biotinidase deficiency is caused by mutations in the BTD gene. The BTD gene provides instructions for making the biotinidase enzyme, which is essential for breaking down biotin, a vitamin that plays a key role in the body’s energy metabolism. When the BTD gene is mutated, the biotinidase enzyme is not produced in sufficient quantities, resulting in a deficiency of biotin in the body.

According to the Online Mendelian Inheritance in Man (OMIM) catalog, biotinidase deficiency can lead to a range of symptoms and associated conditions, including hearing loss, neurological abnormalities, and skin rash. Additional names for this condition include biotin-dependent carboxylases deficiency and multiple carboxylase deficiency.

References in PubMed support the importance of genetic testing in identifying mutations in the BTD gene to confirm a diagnosis of biotinidase deficiency. ClinicalTrial.gov provides resources for patients and caregivers to learn more about biotinidase deficiency and participate in clinical trials and research studies.

Advocacy articles by Tokatli et al. in the journal Human Genetics highlight the clinical and genetic characteristics of biotinidase deficiency, supporting the need for early diagnosis and treatment for patients with this rare disease.

Overall, the scientific community recognizes the rarity of biotinidase deficiency and continues to conduct research on its causes, inheritance patterns, and potential treatments. Genetic testing and research studies play a vital role in advancing our understanding of this condition and developing interventions to support patients with biotinidase deficiency.

Causes

Biotinidase deficiency is caused by mutations in the BTD gene. The BTD gene provides instructions for making the enzyme biotinidase, which is needed to recycle biotin, a B-vitamin that is important for the body’s normal growth and development.

The BTD gene is located on chromosome 3 in humans.
Mutations in the BTD gene can result in reduced or absent biotinidase activity, leading to biotinidase deficiency.
Biotinidase deficiency is inherited in an autosomal recessive manner, which means that both copies of the gene must have mutations for the condition to occur.
Individuals with one mutated BTD gene are known as carriers and typically do not show symptoms of biotinidase deficiency.

Biotinidase deficiency is considered a rare genetic condition. The exact frequency is unknown, but it is estimated to occur in approximately 1 in every 60,000 to 120,000 individuals in the general population.

Additional information about the causes of biotinidase deficiency can be found in the OMIM entry for this condition (OMIM: ).

Genetic testing can be done to identify mutations in the BTD gene, which can confirm a diagnosis of biotinidase deficiency.

Research studies on the genetic causes of biotinidase deficiency, as well as other genetic diseases, can be found on the PubMed database and other scientific resources.

For more information about biotinidase deficiency and support resources, visit the Biotinidase Deficiency Family Support Group or the National Organization for Rare Disorders (NORD).

Clinical trials for the treatment and management of biotinidase deficiency can be found on the ClinicalTrials.gov website (ClinicalTrials.gov ).

Learn more about the gene associated with Biotinidase deficiency

Biotinidase deficiency is a rare genetic condition caused by mutations in the BTD gene. This gene provides instructions for making the biotinidase enzyme, which is responsible for recycling biotin (a B-vitamin) in the body. Biotinidase deficiency is an autosomal recessive disorder, meaning that individuals must inherit two copies of the mutated gene – one from each parent – to develop the condition.

Individuals with this gene mutation have reduced or absent biotinidase enzyme activity, leading to a biotin-dependent condition. Biotin is essential for the function of several carboxylases, which are enzymes involved in important metabolic processes. Therefore, the lack of biotin recycling leads to a deficiency of these carboxylases, resulting in a variety of symptoms and health issues.

Symptoms of biotinidase deficiency can vary widely but often include developmental delays, seizures, skin rash, hair loss, and hearing loss. Early identification through newborn screening and prompt treatment with biotin supplementation can prevent or correct most symptoms associated with this condition.

If you or someone you know has been diagnosed with biotinidase deficiency or if you suspect you may be a carrier of the BTD gene mutation, there are several resources available to learn more. The National Library of Medicine’s Online Mendelian Inheritance in Man (OMIM) provides a comprehensive catalog of genes and genetic conditions, including biotinidase deficiency. ClinicalTrials.gov also offers information on ongoing research studies and clinical trials related to biotinidase deficiency.

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Inheritance

Biotinidase deficiency is inherited in an autosomal recessive manner. This means that an individual must inherit two copies of the mutated gene in order to have the condition.

The gene catalog for biotinidase deficiency can be found on the OMIM database, where you can learn more about the genetic mutations associated with this condition. You can also find information on the genotype-phenotype relationships, as well as references to scientific articles and other resources.

Genetic testing is available for biotinidase deficiency, which can help diagnose patients with the disease. This testing can identify mutations in the BTD gene, which is responsible for producing the biotinidase enzyme.

There are rare cases where individuals have a partial deficiency of biotinidase, resulting in milder symptoms. These individuals typically have one normal gene and one mutated gene.

If you are interested in learning more about biotinidase deficiency or want to find clinical trials related to this condition, you can visit websites such as ClinicalTrials.gov or reach out to advocacy and support groups like the Biotinidase Deficiency Family Support Group. These resources can provide you with additional information and connect you with other individuals who have experience with this rare genetic condition.

Other Names for This Condition

Biotinidase deficiency is also known by several other names, including:

Partial biotinidase deficiency
BIOTD
Multiple carboxylase deficiency, late onset
Biotinidase deficiency, late onset
Carboxylase deficiency, late onset, multiple
BTD
BIOD

These terms are used interchangeably to refer to the same condition with varying levels of severity and associated symptoms.

Additional Information Resources

Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive catalog of human genes and genetic diseases. The OMIM entry for biotinidase deficiency provides detailed information about the condition, including its clinical features, inheritance pattern, and gene mutations. Visit the OMIM website to learn more.
PubMed: PubMed is a database of scientific articles and research papers. It contains numerous studies and articles about biotinidase deficiency. Use keywords such as “biotinidase deficiency” or “biotinidase deficiency genetics” to find relevant studies. Visit PubMed to search for articles.
Genetic Testing: Genetic testing can be used to diagnose biotinidase deficiency and identify specific gene mutations. Talk to a genetic counselor or healthcare provider to learn more about genetic testing options.
Advocacy Organizations: There are several organizations that provide support and resources for individuals and families affected by biotinidase deficiency. These organizations often offer educational materials, support groups, and advocacy efforts. Some notable advocacy organizations include the Biotinidase Deficiency Foundation and the National Organization for Rare Disorders (NORD).
ClinicalTrials.gov: ClinicalTrials.gov is a registry of clinical studies and trials. It provides information about ongoing and completed clinical trials for various diseases, including biotinidase deficiency. Visit ClinicalTrials.gov to search for clinical trials related to biotinidase deficiency.
Hearing and Biotin-Dependent Carboxylases: Biotinidase deficiency can cause hearing loss and impair the function of biotin-dependent carboxylases in the body. To learn more about the relationship between biotinidase deficiency and hearing, consult scientific articles and research papers.

Genetic Testing Information

Genetic testing is an important tool in the diagnosis and management of biotinidase deficiency. This condition is caused by mutations in the BTD gene, which is responsible for producing the biotinidase enzyme. Without this enzyme, the body is unable to use and recycle biotin, a B vitamin that is essential for the functioning of several carboxylases.

Biotinidase deficiency is a rare inherited condition that results in a wide range of symptoms, including hearing loss, seizures, developmental delay, and skin rash. The severity of the disease can vary widely from patient to patient, even within the same family. Genetic testing can help confirm the diagnosis and provide valuable information about the specific mutations in the BTD gene that are causing the condition.

There are several resources available for genetic testing for biotinidase deficiency. The Genetic Testing Registry (GTR) provides a catalog of available genetic tests and laboratories that offer these tests. ClinicalTrials.gov is another valuable resource that provides information on clinical trials and studies related to biotinidase deficiency. PubMed is a database of scientific articles that can provide more information about the disease, associated genes, and research studies.

In addition to genetic testing, there are other resources available for patients and families affected by biotinidase deficiency. Advocacy organizations such as the Biotinidase Deficiency Family Support Group provide support, information, and resources for families dealing with this rare condition. OMIM is a comprehensive database that provides information on the inheritance, frequency, and other names associated with biotinidase deficiency.

Genetic testing can play a crucial role in the management of biotinidase deficiency. It can help identify individuals at risk for the condition, guide treatment decisions, and provide information about the likelihood of passing the condition on to future generations. If you are a patient or healthcare provider interested in learning more about genetic testing for biotinidase deficiency, consult with a genetic testing center or talk to your healthcare provider for more information.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) provides information about the biotinidase deficiency, a rare genetic condition that affects the body’s ability to process biotin. This condition is also known by other names, including biotinidase deficiency, biotin deficiency type 1, and partial biotinidase deficiency.

Biotinidase deficiency is caused by mutations in the BTD gene, which provides instructions for making the biotinidase enzyme. Without enough biotinidase, the body cannot fully utilize biotin from the diet, leading to a range of symptoms and health problems.

The inheritance pattern of biotinidase deficiency is autosomal recessive, which means that an affected individual must inherit two copies of the mutated gene (one from each parent) to develop the condition. Individuals who inherit only one copy of the mutated gene are known as carriers and typically do not have any symptoms.

Biotinidase deficiency can present with a variety of signs and symptoms, including developmental delays, seizures, weak muscle tone, hearing and vision problems, and skin rashes. The severity of the condition can vary widely, even among affected individuals in the same family.

The frequency of biotinidase deficiency in the general population is estimated to be 1 in 60,000 to 1 in 80,000 births. However, the condition may be more common in certain populations, such as people of Turkish descent. It affects both males and females equally.

Diagnosis of biotinidase deficiency is made through specialized testing that looks for mutations in the BTD gene or measures the activity of the biotinidase enzyme in the blood. Early diagnosis and treatment are crucial to prevent or correct the symptoms associated with biotinidase deficiency.

Patient support and advocacy groups can provide additional information and resources for individuals and families affected by biotinidase deficiency. The Genetic and Rare Diseases (GARD) Information Center offers a comprehensive catalog of gene-associated diseases and rare conditions, including biotinidase deficiency.

Scientific research and clinical studies on biotinidase deficiency are ongoing, with the goal of improving understanding of the condition and developing better treatments or interventions. Information about these studies can be found on websites such as OMIM, PubMed, and ClinicalTrials.gov.

Learn more about biotin-dependent carboxylases and other biotinidase-related diseases through articles and studies published in scientific journals. The work of researchers and clinicians, such as Dr. Tokatli and others, has contributed significantly to our knowledge of this rare genetic condition.

Overall, the Genetic and Rare Diseases Information Center (GARD) is a valuable resource for individuals seeking information on biotinidase deficiency. It provides a wealth of information on the causes, symptoms, diagnosis, and treatment options for this rare condition.

Patient Support and Advocacy Resources

Biotinidase deficiency is a rare genetic condition that affects the body’s ability to process biotin, a vitamin that is important for normal growth and development.

Patient support and advocacy resources exist to help individuals and families affected by this condition. These resources provide information, support, and advocacy for people with biotinidase deficiency and other rare genetic diseases.

Here are some resources that may be helpful:

Genetic and Rare Diseases Information Center (GARD): GARD provides information about biotinidase deficiency and other rare diseases. You can learn more about the causes, inheritance, and frequency of the condition.
Biotinidase Deficiency Family Support Group: This support group offers a community for individuals and families affected by biotinidase deficiency. They provide support, resources, and information about the condition.
Biotinidase Deficiency Foundation: The foundation supports research and raises awareness about biotinidase deficiency. They provide educational materials, support networks, and information about clinical trials and research studies.
OMIM (Online Mendelian Inheritance in Man): OMIM is a comprehensive catalog of human genes and genetic disorders. You can find detailed information about the genetic mutations associated with biotinidase deficiency.
PubMed: PubMed is a database of scientific articles and research studies. You can find additional information about biotinidase deficiency, testing, treatment, and more.
ClinicalTrials.gov: ClinicalTrials.gov is a registry of clinical trials involving biotinidase deficiency. You can find information about ongoing studies and how to participate.
References: References to scientific articles and research studies on biotinidase deficiency can provide further information and insights into the condition. These references can often be found in the aforementioned resources.

Research Studies from ClinicalTrialsgov

Research studies play a vital role in understanding and finding potential treatments for biotinidase deficiency, a rare genetic condition caused by mutations in the biotinidase gene. These studies aim to provide further insight into the causes, symptoms, and management of this condition.

Through clinical trials listed on ClinicalTrials.gov, researchers are able to study the genes associated with biotinidase deficiency and investigate potential treatment options. The catalog of studies on ClinicalTrials.gov provides valuable information on current and ongoing research in the field of genetic diseases.

Studies have shown that biotinidase deficiency can be caused by mutations in the biotinidase gene, which result in a deficiency of the biotinidase enzyme. This deficiency leads to a build-up of certain substances in the body that can cause a wide range of symptoms affecting various organ systems.

The National Center for Biotechnology Information (NCBI) and the Online Mendelian Inheritance in Man (OMIM) database are two additional resources where researchers can find articles and references related to biotinidase deficiency. These resources provide support for further research and understanding of the condition.

Inheritance of biotinidase deficiency is autosomal recessive, meaning that both parents must carry a copy of the mutated gene for their child to inherit the condition. Genetic testing can help identify individuals who carry these mutations and provide information about the likelihood of passing on the condition to their offspring.

Advocacy groups and patient support organizations can provide information about biotinidase deficiency and other rare diseases. These organizations help raise awareness, provide support to patients and families, and promote research into potential treatments and management strategies.

Research studies from ClinicalTrials.gov and other sources contribute to our understanding of biotinidase deficiency and offer hope for improved diagnosis, treatment, and management of this condition.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of genes and genetic diseases. It provides detailed information on inherited disorders, their genetic causes, and associated clinical features. Biotinidase deficiency is one such rare condition included in the OMIM catalog.

Biotinidase deficiency is an inherited metabolic disorder that affects the body’s ability to process biotin, a B-complex vitamin. It is caused by mutations in the BTD gene, which provides instructions for making the biotinidase enzyme. This enzyme is necessary for releasing biotin from proteins in food, so that it can be used by the body’s carboxylases.

Without proper biotinidase enzyme activity, the body cannot recycle biotin, leading to a biotin deficiency. This deficiency can cause a range of symptoms, including skin rashes, hair loss, seizures, developmental delays, and hearing loss.

Biotinidase deficiency is a rare condition, with an estimated frequency of about 1 in 60,000 births. Diagnosis of the condition can be made through biotinidase enzyme activity testing. Early detection and treatment with biotin supplements can prevent or correct the symptoms associated with this deficiency.

OMIM provides a wealth of resources for learning more about biotinidase deficiency and other genetic diseases. It includes scientific articles, patient advocacy resources, references to clinical trials, and additional genetic information. Researchers and healthcare professionals can access OMIM to stay updated on the latest studies and clinical trials related to biotinidase deficiency.

For more information on biotinidase deficiency, the following resources can be helpful:

OMIM: OMIM entry on biotinidase deficiency: https://omim.org/entry/253260
Genetics Home Reference: Information on the BTD gene and biotinidase deficiency: https://ghr.nlm.nih.gov/condition/biotinidase-deficiency
PubMed: Research articles on biotinidase deficiency and related topics can be found on PubMed: https://pubmed.ncbi.nlm.nih.gov
National Organization for Rare Disorders (NORD): NORD provides advocacy and support for those affected by rare diseases. Their website includes information on biotinidase deficiency: https://rarediseases.org/rare-diseases/biotinidase-deficiency/

By utilizing the resources available through OMIM and other reputable sources, researchers, healthcare professionals, and individuals affected by biotinidase deficiency can further their understanding of this rare genetic condition and promote advancements in diagnosis and treatment.

Scientific Articles on PubMed

PubMed is a valuable resource for finding scientific articles related to biotinidase deficiency. Here are some useful references and information:

Carboxylases: Biotinidase deficiency is a rare genetic condition that affects the activity of biotinidase, one of the carboxylases involved in biotin metabolism.
The Causes: The deficiency can be caused by mutations in the BTD gene, which encodes the biotinidase enzyme, or by other genetic factors.
ClinicalTrials.gov: ClinicalTrials.gov is a valuable resource for finding ongoing clinical trials related to biotinidase deficiency and other rare diseases.
Additional Studies: There are many other scientific articles available on PubMed that discuss various aspects of biotinidase deficiency, including its clinical presentation, diagnosis, and treatment options.
The Biotinidase Gene: The BTD gene is associated with biotinidase deficiency, and mutations in this gene can lead to the condition.
Frequency: Although biotinidase deficiency is a rare condition, it is important to learn more about it and support advocacy efforts for affected individuals.
OMIM: OMIM is a catalog of human genes and genetic disorders, including biotinidase deficiency. It provides information on the inheritance pattern and clinical features of the condition.
Hearing and Other Associated Diseases: Biotinidase deficiency can also lead to hearing loss and other associated medical conditions.
Genetic Testing: Genetic testing can help confirm a diagnosis of biotinidase deficiency and identify specific gene mutations.
Learn More: There is still much to learn about the biology and treatment of biotinidase deficiency, and ongoing research studies are contributing to our understanding of the condition.

These scientific articles provide valuable information on biotinidase deficiency and can help healthcare professionals, researchers, and patients stay updated on the latest advancements in the field.

References

OMIM: Online Mendelian Inheritance in Man. Biotinidase deficiency. [Online]. Available at https://omim.org/entry/253260.
PubMed: A database of scientific articles. Biotinidase deficiency. [Online]. Available at https://pubmed.ncbi.nlm.nih.gov/?term=biotinidase+deficiency.
ClinicalTrials.gov: Information on clinical trials. Biotinidase deficiency. [Online]. Available at https://clinicaltrials.gov/ct2/results?cond=biotinidase+deficiency.

Additional information and resources :

Learn.Genetics: Biotinidase deficiency. [Online]. Available at https://learn.genetics.utah.edu/content/disorders/hidden/biotinidase/.
Genetic and Rare Diseases Information Center: Biotinidase deficiency. [Online]. Available at https://rarediseases.info.nih.gov/diseases/4787/biotinidase-deficiency.
Tokatli, A.: Biotinidase deficiency. In: GeneReviews®. [Online]. Available at https://www.ncbi.nlm.nih.gov/books/NBK1322/.

Support and advocacy groups:

Biotinidase Deficiency Family Support Group [Online]. Available at http://biotinidasedeficiency.org/.

Articles and studies:

Tokatli, A. (2007). Biotinidase deficiency. Orphanet Journal of Rare Diseases, 2, 42. [Online]. Available at https://ojrd.biomedcentral.com/articles/10.1186/1750-1172-2-42.
Wolf, B. (2011). Biotinidase Deficiency: “If You Have to Have an Inherited Metabolic Disease, This Is the One to Have”. Genetics in Medicine, 13(9), 835-836. [Online]. Available at https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3356127/.

For more information:

Genetic and Rare Diseases Information Center (GARD): Biotinidase deficiency. [Online]. Available at https://rarediseases.info.nih.gov/gard/4787/biotinidase-deficiency/resources/1.
Children’s National Health System: Biotinidase deficiency. [Online]. Available at https://childrensnational.org/visit/conditions-and-treatments/genetic-disorders/biotinidase-deficiency.