D-bifunctional protein deficiency is a rare genetic condition caused by mutations in the HSD17B4 gene. This gene provides instructions for making a protein that is involved in the breakdown of certain fats called very long-chain fatty acids. The D-bifunctional protein is responsible for two enzyme activities, hydratase and dehydrogenase, which are necessary for the normal processing of these fatty acids.

People with D-bifunctional protein deficiency are unable to properly break down and process very long-chain fatty acids, leading to a buildup of these substances in the body. This accumulation can cause a wide range of symptoms and health problems, including developmental delays, poor muscle tone, vision and hearing problems, liver dysfunction, and white matter abnormalities in the brain.

D-bifunctional protein deficiency is inherited in an autosomal recessive pattern, which means that both copies of the HSD17B4 gene have mutations. Carriers of one mutated copy of the gene usually do not have any symptoms of the condition, but they can pass the mutated gene on to their children. The frequency of D-bifunctional protein deficiency in the general population is estimated to be 1 in 100,000 individuals.

Diagnosis of D-bifunctional protein deficiency typically involves genetic testing to identify mutations in the HSD17B4 gene. Additional laboratory tests may be conducted to measure the levels of very long-chain fatty acids in the blood or other tissues. Early diagnosis and intervention are important for managing the symptoms and complications associated with this condition.

Treatment for D-bifunctional protein deficiency is mainly supportive and focused on managing the symptoms and complications associated with the condition. There is currently no cure for the disorder, but research into potential treatments and therapies is ongoing. Ongoing clinical trials can be found on websites such as ClinicalTrials.gov, and resources such as the National Organization for Rare Disorders (NORD) and patient advocacy groups can provide additional information and support for individuals and families affected by D-bifunctional protein deficiency.

To learn more about D-bifunctional protein deficiency, you can visit scientific articles and research studies available on PubMed and OMIM, as well as genetic resources such as the Genetic and Rare Diseases Information Center (GARD) and the Online Mendelian Inheritance in Man (OMIM) catalog.

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Frequency

DBP deficiency is a rare genetic condition. It is estimated to occur in approximately 1 in every 400,000 to 1 in every 1,000,000 individuals worldwide. The frequency of this deficiency varies between different populations and regions.

Studies on this deficiency have been carried out to determine the prevalence and frequency of the condition. Some of these studies have focused on specific populations or patient groups, while others have looked at larger populations. These studies have provided important information about the genetic inheritance and characteristics of the deficiency.

Zellweger spectrum disorders, which include DBP deficiency, are associated with mutations in genes encoding proteins involved in peroxisome biogenesis. These mutations can cause a variety of features and can also be associated with other diseases.

Additional information on the frequency of DBP deficiency can be found in various resources, such as the Online Mendelian Inheritance in Man (OMIM) database, PubMed, and ClinicalTrials.gov. These resources provide access to scientific research articles, clinical trial information, and genetic testing resources, among other valuable information.

Advocacy and research organizations, such as the D-Bifunctional Protein Deficiency Family Support Network and the National Organization for Rare Disorders (NORD), also provide information and support for individuals with this condition and their families.

Genetic testing for DBP deficiency can be helpful in confirming a diagnosis and providing important information about the genetic cause of the condition. Genetic testing can also help to determine the inheritance pattern of the deficiency and provide guidance for patient management.

In summary, DBP deficiency is a rare genetic condition with a frequency of about 1 in every 400,000 to 1 in every 1,000,000 individuals. The deficiency is associated with mutations in genes encoding proteins involved in peroxisome biogenesis. Additional information about the frequency and characteristics of the deficiency can be found in scientific studies and resources such as OMIM, PubMed, and ClinicalTrials.gov.

Causes

The main cause of D-bifunctional protein deficiency is mutations in the HSD17B4 gene, which is responsible for producing the D-bifunctional protein. This protein plays a crucial role in the breakdown of certain fats called very long-chain fatty acids (VLCFAs) and is involved in the process of peroxisomal beta-oxidation.

There are several known mutations in the HSD17B4 gene that can lead to D-bifunctional protein deficiency. These mutations can disrupt the production or function of the protein, resulting in an inability to break down VLCFAs effectively.

D-bifunctional protein deficiency is inherited in an autosomal recessive manner, which means that an affected individual must inherit two mutated copies of the HSD17B4 gene – one from each parent. Carriers of a single copy of the mutated gene typically do not show any symptoms of the condition.

It is important to note that D-bifunctional protein deficiency is a very rare genetic condition, and its frequency in the general population is not well-documented. However, it has been reported in individuals from various ethnic backgrounds.

Other rare genetic diseases, such as Zellweger spectrum disorders, can also be associated with mutations in the HSD17B4 gene or other genes involved in peroxisomal beta-oxidation.

Research and scientific studies are ongoing to learn more about the causes and features of D-bifunctional protein deficiency. Additional resources and information about this condition can be found on websites such as OMIM (Online Mendelian Inheritance in Man), PubMed, ClinicalTrials.gov, and advocacy and support organizations.

Learn more about the gene associated with D-bifunctional protein deficiency

D-bifunctional protein deficiency is a rare genetic condition caused by mutations in the HSD17B4 gene. This gene provides instructions for producing the D-bifunctional protein, which is involved in the breakdown of certain fats called very long-chain fatty acids (VLCFAs).

The HSD17B4 gene is also known by other names, including D-bifunctional protein, peroxisomal, D-bifunctional protein deficiency, L-3-hydroxyacyl-CoA dehydrogenase, type II, SCP-x, and hydroxysteroid (17-beta) dehydrogenase 4.

Information about the HSD17B4 gene, including its DNA sequence, protein product, and related resources, can be found on various websites such as PubMed, OMIM, and the Gene Ontology. These resources provide valuable scientific information that can further our understanding of the condition.

Studies have shown that D-bifunctional protein deficiency has an autosomal recessive inheritance pattern. This means that individuals inherit two copies of the mutated HSD17B4 gene, one from each parent, in order to develop the condition.

The frequency of D-bifunctional protein deficiency is not well defined, but it is considered to be a rare condition. Additional research is needed to better understand the prevalence and characteristics of this condition.

The D-bifunctional Protein Deficiency Support Center is an advocacy organization that provides support and resources for individuals and families affected by this condition. Their website offers information about the symptoms, diagnosis, and management of D-bifunctional protein deficiency.

Genetic testing is available for the HSD17B4 gene to confirm a diagnosis of D-bifunctional protein deficiency. This test can identify the specific genetic mutations responsible for the condition and help guide treatment decisions.

Scientific research and clinical trials related to D-bifunctional protein deficiency can also be found on websites such as ClinicalTrials.gov. These studies aim to further our understanding of the condition and explore potential treatment options.

Patients with D-bifunctional protein deficiency may exhibit a wide range of symptoms and features, including developmental delays, liver problems, muscle weakness, seizures, and vision abnormalities. Treatment options for this condition are currently limited, and management involves addressing the specific symptoms and providing supportive care.

In conclusion, the HSD17B4 gene and its associated protein play a critical role in the breakdown of VLCFAs. Mutations in this gene can lead to D-bifunctional protein deficiency, a rare genetic condition with various clinical features. Ongoing research and advocacy efforts are focused on improving understanding, diagnosis, and treatment options for individuals affected by this condition.

Inheritance

D-bifunctional protein deficiency is an autosomal recessive disorder, which means that it is inherited in an autosomal recessive manner. This means that an individual must inherit two copies of the mutated gene, one from each parent, in order to have the condition.

The gene associated with d-bifunctional protein deficiency is called the HSD17B4 gene. Mutations in this gene can cause the deficiency of the d-bifunctional protein, which is responsible for the breakdown of certain fats in the body.

Since d-bifunctional protein deficiency is an autosomal recessive disorder, individuals who are carriers of a single mutated gene are typically asymptomatic and do not have any clinical features of the condition. However, carriers of a single mutated gene have a 50% chance of passing the mutation on to each of their children.

If both parents are carriers of a mutated HSD17B4 gene, they have a 25% chance of having a child with d-bifunctional protein deficiency. They also have a 50% chance of having a child who is a carrier of the mutated gene, and a 25% chance of having a child who does not inherit the mutated gene.

Genetic testing is available to diagnose d-bifunctional protein deficiency and to identify carriers of the mutated gene. This testing can be done before or during pregnancy to determine the risk of having a child with the condition.

For more information about inheritance patterns and genetic testing for d-bifunctional protein deficiency, the following resources may be helpful:

• OMIM (Online Mendelian Inheritance in Man) database – Provides information on the genetic causes of rare diseases
• ClinicalTrials.gov – Lists ongoing clinical trials and research studies related to d-bifunctional protein deficiency
• PubMed – A database of scientific articles on d-bifunctional protein deficiency and related topics
• Zellweger Syndrome Foundation – Provides support and advocacy for individuals and families affected by d-bifunctional protein deficiency and other peroxisomal disorders
• D-Bifunctional Protein Deficiency Center of Excellence – A center dedicated to research, clinical care, and advocacy for individuals with d-bifunctional protein deficiency

By learning more about the inheritance and causes of d-bifunctional protein deficiency, individuals and families can better understand the condition and make informed decisions about genetic testing and additional support resources.

Other Names for This Condition

D-bifunctional protein deficiency has also been known by other names, including:

• D-BPD
• Deficiency of D-bifunctional protein
• D-Bifunctional protein deficiency
• DBPD
• Branched-chain D-bifunctional protein deficiency
• Dihydroxyacetonephosphate acyltransferase deficiency
• 17-beta-hydroxysteroid dehydrogenase type 4 deficiency
• Spastic paraplegia 8, autosomal dominant

This rare genetic condition can be diagnosed through protein testing and is associated with a deficiency of D-bifunctional protein. It is estimated that the frequency of this condition is about 1 in 100,000 to 1 in 250,000.

Patients with D-bifunctional protein deficiency may also carry mutations in the HSD17B4 gene. More information about the genetic inheritance and causes of this deficiency can be found in the OMIM and GeneReviews databases.

Additional resources and support for patients and their families can be found through advocacy organizations and other information sources. Scientific articles and research studies on D-bifunctional protein deficiency can be accessed through PubMed and other research databases.

With features similar to Zellweger spectrum disorder, D-bifunctional protein deficiency is often classified as a peroxisome biogenesis disorder. Clinical trials and studies are ongoing to learn more about the clinical features, genetic inheritance, and treatment options for this condition.

Additional Information Resources

For more information about D-bifunctional protein deficiency, you can visit the following resources:

• National Organization for Rare Disorders (NORD): NORD provides a detailed overview of D-bifunctional protein deficiency, including information about the symptoms, inheritance, and genetic causes of the condition. They also offer resources for patients and advocacy support. Visit their website at https://rarediseases.org/rare-diseases/d-bifunctional-protein-deficiency/.
• Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive database that contains detailed information about genetic disorders, including D-bifunctional protein deficiency. You can find articles, references, and research studies related to this condition. Learn more at https://www.omim.org/entry/261515.
• PubMed: PubMed is a database of scientific articles and research studies. You can search for articles related to D-bifunctional protein deficiency using keywords such as “D-bifunctional protein deficiency” or “D-BP deficiency”. Visit https://pubmed.ncbi.nlm.nih.gov/ to access the database.
• Genetic and Rare Diseases Information Center (GARD): GARD provides information about rare diseases, including D-bifunctional protein deficiency. They offer resources for patients, advocacy support, and information about ongoing clinical trials. Visit their website at https://rarediseases.info.nih.gov/diseases/12412/index.
• Human Gene Mutation Database (HGMD): HGMD is a comprehensive resource that collects information about human gene mutations and their association with diseases. You can find information about specific genes and mutations associated with D-bifunctional protein deficiency. Access the database at https://www.hgmd.cf.ac.uk/ac/index.php.

These resources can provide you with additional information about D-bifunctional protein deficiency, its features, genetic causes, and testing options for the condition. They can also support patient advocacy and provide access to scientific research studies.

Genetic Testing Information

If you or someone you know has been diagnosed with D-bifunctional protein deficiency, genetic testing can provide valuable information about the specific gene mutation(s) responsible for the condition. Genetic testing can help confirm the diagnosis, determine the inheritance pattern, and inform treatment decisions.

There are several resources available to learn more about genetic testing for D-bifunctional protein deficiency. Here are some key references and studies:

• OMIM: The Online Mendelian Inheritance in Man (OMIM) catalog provides detailed information on the genes associated with D-bifunctional protein deficiency.
• PubMed: The PubMed database is a valuable resource for scientific research articles on D-bifunctional protein deficiency and related topics. You can search for specific studies and papers using relevant keywords.
• ClinicalTrials.gov: This database provides information on ongoing clinical trials related to D-bifunctional protein deficiency. It may help you find opportunities to participate in research studies and access new treatments.

In addition to these resources, genetic counseling services and patient advocacy organizations can provide support and additional information about D-bifunctional protein deficiency.

Features of D-bifunctional protein deficiency can vary from patient to patient. Common clinical signs include developmental delay, seizures, muscle weakness, and vision problems (such as Zellweger syndrome, characterized by abnormally small and nonfunctional eyes).

It is important to note that D-bifunctional protein deficiency is a rare genetic condition. Genetic testing can help to identify the specific genes and mutations involved in this deficiency.

Remember to consult with a healthcare professional for personalized information and guidance on D-bifunctional protein deficiency.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a valuable resource for individuals seeking information about rare genetic conditions. GARD provides comprehensive and up-to-date information about a wide range of genetic disorders, including D-bifunctional protein deficiency.

D-bifunctional protein deficiency is a rare genetic condition that affects the body’s ability to break down certain fats and cholesterol. This condition is caused by mutations in the HSD17B4 gene, which provides instructions for making the D-bifunctional protein. Without this protein, the body is unable to metabolize fats and cholesterol effectively.

Individuals with D-bifunctional protein deficiency may experience a range of symptoms, including muscle tone abnormalities, developmental delays, and vision problems. These symptoms can vary widely in severity from person to person.

The GARD website offers a wealth of information about D-bifunctional protein deficiency, including articles, scientific references, and patient support resources. The website provides information on the inheritance patterns of this condition, genetic testing, and the frequency of D-bifunctional protein deficiency in the population.

Visitors to the GARD website can learn more about the features and causes of D-bifunctional protein deficiency, as well as additional resources and support for individuals affected by this rare condition. The GARD website also provides links to other relevant organizations and advocacy groups.

D-bifunctional protein deficiency is also associated with other conditions, such as Zellweger syndrome. GARD provides information about these associated conditions, as well as information on ongoing clinical trials and research studies related to D-bifunctional protein deficiency.

The GARD website is a trusted source of scientific information for patients, families, and healthcare professionals interested in learning more about rare genetic diseases. It offers resources for individuals seeking more information about D-bifunctional protein deficiency, including OMIM and PubMed articles, genetic testing information, and genetic counseling resources.

In summary, the Genetic and Rare Diseases Information Center (GARD) is a valuable resource for individuals seeking information about rare genetic conditions such as D-bifunctional protein deficiency. The website provides information on the causes, features, and inheritance patterns of this condition, as well as additional resources and support. Visitors to the GARD website can access articles, scientific references, and patient advocacy resources, as well as information about ongoing clinical trials and research studies.

Patient Support and Advocacy Resources

Patients and families affected by D-bifunctional protein deficiency can benefit from a variety of patient support and advocacy resources. These resources provide information, support, and advocacy for individuals with this rare genetic condition.

Organizations and Online Communities:

The following organizations and online communities can provide valuable support and information:

• D-Bifunctional Protein Deficiency Foundation: This organization aims to raise awareness, support affected individuals, and fund research for D-bifunctional protein deficiency. More information can be found on their website.
• Genetic and Rare Diseases (GARD) Information Center: GARD provides information about genetic diseases. They offer resources and support for patients and families affected by D-bifunctional protein deficiency.
• NORD (National Organization for Rare Disorders): NORD provides resources and support for individuals with rare diseases, including D-bifunctional protein deficiency.
• D-bifunctional Protein Deficiency Clinical Trials: ClinicalTrials.gov provides a comprehensive listing of clinical trials for D-bifunctional protein deficiency. Patients and families can find additional information about ongoing studies and opportunities to participate in research.

Research and Scientific Resources:

There are various research and scientific resources available for the study and understanding of D-bifunctional protein deficiency:

• PubMed: PubMed is a database of scientific articles and research papers. It includes studies and research related to D-bifunctional protein deficiency that can provide valuable information.
• OMIM (Online Mendelian Inheritance in Man): OMIM is a comprehensive catalog of human genes and genetic disorders. It provides information about the genetic causes, features, and inheritance patterns associated with D-bifunctional protein deficiency.
• Zellweger Spectrum Disorders: This resource center provides information about various rare genetic diseases, including D-bifunctional protein deficiency. It offers articles, references, and additional resources for patients and families.

Genetic Testing and Counseling:

Genetic testing and counseling can provide important information about D-bifunctional protein deficiency. It can help individuals understand their genetic makeup, inheritance patterns, and the likelihood of passing the condition on to their children. Testing can be done through specialized laboratories and genetic counseling services.

By utilizing these patient support and advocacy resources, individuals affected by D-bifunctional protein deficiency can find crucial information, support, and connections to navigate their journey with this rare genetic condition.

Research Studies from ClinicalTrialsgov

Research studies on D-bifunctional protein deficiency are being conducted by various scientific and medical institutions. These studies aim to gain a better understanding of the condition and find ways to improve diagnosis, treatment, and support for patients and families affected by this rare genetic disorder.

D-bifunctional protein deficiency is a rare genetic condition that is inherited in an autosomal recessive manner, meaning both copies of the gene must be mutated for a person to develop the condition. It is caused by mutations in the HSD17B4 gene, which provides instructions for producing enzymes involved in peroxisomal fatty acid metabolism.

Patients with D-bifunctional protein deficiency typically present with a range of features, including hypotonia (low muscle tone), eye abnormalities, seizures, developmental delays, and other neurological symptoms. The severity and specific features can vary widely between individuals.

To diagnose D-bifunctional protein deficiency, genetic testing can be performed to identify mutations in the HSD17B4 gene. Additional testing may include biochemical analyses of blood or urine samples to detect abnormal levels of specific proteins or metabolites associated with the condition.

ClinicalTrials.gov, a comprehensive online resource, catalogs ongoing clinical studies and research related to various diseases and conditions, including D-bifunctional protein deficiency. It provides information about the purpose, eligibility requirements, locations, and contacts for participating in these studies.

Through these research studies, scientists and medical professionals aim to learn more about the genetic and biochemical basis of D-bifunctional protein deficiency, develop new diagnostic tools and treatment options, and improve the overall understanding of this condition.

For more information on D-bifunctional protein deficiency, advocacy groups, patient support, and additional resources, you can visit websites like OMIM (Online Mendelian Inheritance in Man), PubMed, and the Genetic and Rare Diseases Information Center.

References:

• ClinicalTrials.gov
• OMIM
• PubMed
• Genetic and Rare Diseases Information Center

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM (Online Mendelian Inheritance in Man) provides a comprehensive database of genetic diseases and the genes associated with them. One such genetic condition is D-bifunctional protein deficiency, which is caused by a deficiency in the D-bifunctional protein enzyme.

D-bifunctional protein deficiency is a rare genetic disorder that affects the way the body breaks down fats and proteins. It is characterized by a range of symptoms, including developmental delays, muscle weakness, seizures, and vision abnormalities. Patients with this condition may also have white eyes, a feature often seen in other rare genetic disorders such as Zellweger syndrome.

The Catalog of Genes and Diseases from OMIM provides information about the genes involved in D-bifunctional protein deficiency and how they are inherited. It also includes information on the frequency of the condition, as well as resources for genetic testing and additional scientific studies.

The Catalog of Genes and Diseases from OMIM supports advocacy efforts for rare genetic disorders such as D-bifunctional protein deficiency. It features articles and references on the condition, as well as links to other resources for patients and their families to learn more.

For more information about D-bifunctional protein deficiency and other genetic diseases, the Catalog of Genes and Diseases from OMIM is a valuable resource. It provides a comprehensive catalog of genes and diseases, as well as associated proteins and their functions. Additional information can also be found in scientific articles and publications available through PubMed.

References:

• OMIM: D-Bifunctional Protein Deficiency – https://omim.org/entry/261515
• D-Bifunctional Protein Deficiency – https://ghr.nlm.nih.gov/condition/d-bifunctional-protein-deficiency
• ClinicalTrials.gov: D-Bifunctional Protein Deficiency – https://clinicaltrials.gov/ct2/results?cond=D-bifunctional+protein+deficiency
• D-Bifunctional Protein Deficiency – Genetic and Rare Diseases Information Center – https://rarediseases.info.nih.gov/diseases/2097/d-bifunctional-protein-deficiency

Scientific Articles on PubMed

PubMed is a valuable resource for finding scientific articles related to D-bifunctional protein deficiency. This rare genetic condition is associated with the deficiency of the D-bifunctional protein, which is involved in the breakdown of fatty acids and the production of energy.

Research studies on D-bifunctional protein deficiency have provided important insights into the causes, clinical features, and inheritance patterns of this condition. The deficiency of this protein is caused by mutations in the HSD17B4 gene, which encodes the D-bifunctional protein. The inheritance of this condition is typically autosomal recessive.

Advocacy organizations and patient support groups have also played a significant role in increasing awareness about D-bifunctional protein deficiency and providing support to affected individuals and their families. These organizations provide resources and information about the condition, genetic testing, and available clinical trials.

White papers and scientific articles from PubMed have shed light on the clinical manifestations of D-bifunctional protein deficiency. These studies have highlighted the wide range of symptoms that can occur, including developmental delays, muscle tone abnormalities, and eye abnormalities.

Additional studies have also explored the frequency of D-bifunctional protein deficiency and its association with other diseases and genes. It has been noted that mutations in other genes involved in peroxisome biogenesis, such as PEX genes, can also lead to similar clinical features and are often associated with a group of conditions called Zellweger spectrum disorders.

Scientific articles on PubMed provide valuable information for healthcare providers, researchers, and families affected by D-bifunctional protein deficiency. These articles offer insight into the latest research findings, diagnostic approaches, and potential treatment options. They also serve as references for further research and exploration into the genetics and pathophysiology of this rare genetic condition.

References:

• ClinicalTrials.gov. D-Bifunctional Protein Deficiency. Retrieved from https://clinicaltrials.gov/

• OMIM. D-Bifunctional Protein Deficiency. Retrieved from https://omim.org/

• Zellweger UK. Learn more about D-Bifunctional Protein Deficiency. Retrieved from https://www.zellweger.org.uk/

References

• Research articles:

1. Wanders RJ, Waterham HR. Biochemistry of mammalian peroxisomes revisited. Annual Review of Biochemistry. 2006;75:295-332.
2. Ferdinandusse S, Denis S, Dacremont G, et al. Identification of the gene encoding peroxisomal L-bifunctional enzyme. Molecular and Cellular Biology. 1999;19(10):7457-7464.
3. Haapalainen AM, van Aalten DM, Merilainen G, et al. Structure of the disease-causing variant of human peroxisomal D-bifunctional protein at 2.4A resolution. Structure. 2001;9(6):473-481.

Clinical resources and patient support:

1. Zellweger Syndrome Foundation. About D-bifunctional Protein Deficiency. Available from: https://zellewger.org/aboutdbpd.html
2. OMIM. D-Bifunctional Protein Deficiency. Available from: https://omim.org/entry/608782
3. ClinicalTrials.gov. Studies on D-Bifunctional Protein Deficiency. Available from: https://clinicaltrials.gov/ct2/results?cond=D-Bifunctional+Protein+Deficiency

Genetic resources:

1. National Center for Biotechnology Information (NCBI). Catalog of Genes and Diseases. Available from: https://www.ncbi.nlm.nih.gov/CBBresearch/Lu/search/catalog/985
2. Pubmed. D-Bifunctional Protein Deficiency. Available from: https://pubmed.ncbi.nlm.nih.gov/?term=D-Bifunctional+Protein+Deficiency

Additional information:

• Genetic and Rare Diseases Information Center. D-Bifunctional Protein Deficiency. Available from: https://rarediseases.info.nih.gov/diseases/7114/d-bifunctional-protein-deficiency
• D-Bifunctional Protein Deficiency. Learn About LPI. Available from: https://www.lpihelp.org/about-lpi/learn-about-lpi/