The HPD gene provides instructions for making an enzyme called 4-hydroxyphenylpyruvate dioxygenase. This enzyme is active in the liver and is involved in the breakdown of a protein building block (amino acid) called tyrosine. Tyrosine is found in many foods, especially high-protein foods such as meat and dairy products.

Changes in the HPD gene can lead to a shortage (deficiency) of 4-hydroxyphenylpyruvate dioxygenase. Without this enzyme, toxic compounds build up in the body, resulting in a group of related genes called tyrosinemia. These disorders are characterized by the accumulation of a toxic acid called tyrosine and its breakdown products in tissues and organs. The buildup of these compounds can cause liver and kidney problems, as well as other health problems.

Mutations in the HPD gene have been identified in people with hereditary tyrosinemia type 3, a rare condition characterized by the failure of the body to break down tyrosine properly. This buildup leads to the development of various signs and symptoms, including liver and kidney abnormalities, intellectual disability, and skin and eye problems.

Genetic testing for mutations in the HPD gene can help confirm a diagnosis of hereditary tyrosinemia type 3. Other specialized tests may be done to measure the levels of tyrosine and related compounds in the blood or urine. Results from these tests, along with the presence of characteristic signs and symptoms, can help determine the diagnosis. Additional testing may be necessary to rule out other conditions with similar features.

Health Conditions Related to Genetic Changes

In the field of genetics, understanding the relationship between genetic changes and various health conditions is crucial for the diagnosis, treatment, and prevention of diseases. Numerous databases and resources are available to help researchers and healthcare professionals explore the associations between genetic variants and specific health conditions.

One such database is the Online Mendelian Inheritance in Man (OMIM). OMIM is a catalog of genes and genetic disorders that provides comprehensive information on genetic changes associated with various diseases. It provides names, genomic locations, and additional details on genes, variants, and related health conditions.

Once you do get to see the doctor, don’t be surprised if you’re rushed out of the exam room before you get all of your questions answered, according to healthcare staffing agency Staff Care. Studies show that 41% of ophthalmologists spend just 9 to 12 minutes with a patient, and 13- to 16-minute appointments are the norm for 40% of cardiologists, 37% of pediatricians, 35% of urologists, 35% of family physicians, 34% of obstetricians and gynecologists and 30% of otolaryngologists.

Another valuable resource is PubMed, a search engine for scientific articles. PubMed provides access to a vast collection of research articles related to genetics and health conditions. Researchers can use PubMed to find articles on specific genes, genetic changes, and associated diseases.

The Human Gene Mutation Database (HGMD) is a comprehensive database that catalogues pathogenic mutations in human genes. It provides detailed information on the genetic changes associated with various diseases and conditions, including the HPD gene.

One specific health condition related to genetic changes is Tyrosinemia, caused by mutations in the HPD gene. Tyrosinemia is a rare inherited metabolic disorder characterized by the inability to break down the amino acid tyrosine. This genetic change leads to the accumulation of toxic compounds in the body, which can result in liver and kidney failure.

Researchers such as Ugarte et al. have conducted studies on the genetic changes related to Tyrosinemia, providing valuable insights into the molecular mechanisms and clinical manifestations of the disease.

Genetic testing and other diagnostic tests can help identify these genetic changes and assess the risk of developing health conditions such as tyrosinemia. Healthcare professionals can use the information from databases, scientific articles, and genetic testing to facilitate early detection, monitoring, and treatment of these conditions.

By studying the relationship between genetic changes and health conditions, researchers and clinicians can gain a better understanding of the underlying causes and develop targeted interventions to improve patient outcomes.

Tyrosinemia

Tyrosinemia is a genetic disorder that affects the metabolism of the amino acid tyrosine. It is caused by mutations in the HPD gene, which codes for the enzyme hydroxyphenylpyruvate dioxygenase. This enzyme is involved in the breakdown of tyrosine in the liver.

There are three types of tyrosinemia, each caused by mutations in different genes: type I, type II, and type III. Type I tyrosinemia is the most severe form and is characterized by a complete or near-complete deficiency of the enzyme fumarylacetoacetate hydroxylase. Type II tyrosinemia is caused by mutations in the TAT gene, while type III tyrosinemia is caused by mutations in the HPD gene.

Tyrosinemia can lead to a buildup of toxic compounds, such as fumarylacetoacetate, maleylacetoacetate, and succinylacetone, which can cause liver and kidney damage. The condition can also lead to failure to thrive, intellectual disability, and other health problems.

Testing for tyrosinemia can be done through genetic testing to identify mutations in the HPD gene. The Online Mendelian Inheritance in Man (OMIM) database and other genetic databases can provide scientific information on the HPD gene and related disorders. The registry of the International Tyrosinemia Society is also a valuable resource for information and support for individuals and families affected by tyrosinemia.

References:

1. Ugarte, M., Perez-Cerda, C., & Rodriguez-Pombo, P. (2018). Tyrosinemia type 1: From metabolism to gene therapy. International journal of molecular sciences, 19(10), 3079.
2. Holme, E., Lindstedt, S., & Lock, E. A. (1996). An improved method for the detection of hereditary tyrosinemia type I. Journal of Inherited Metabolic Disease, 19(5), 583-587.
3. Catalog of Genes and Diseases (CAGD). (n.d.). HPD gene. Retrieved from https://catalog.coriell.org/0/Sections/Search/Sample_Detail.aspx?Ref=GM11919
4. PubMed. (n.d.). HPD gene. Retrieved from https://pubmed.ncbi.nlm.nih.gov/?term=HPD+gene

Other disorders

• HPD gene mutations have been found to cause other genetic diseases and disorders in addition to 4-hydroxyphenylpyruvic aciduria (HPA).
• One such disorder is tyrosinemia type III, which is caused by a variant in the HPD gene. This condition is characterized by elevated levels of tyrosine in the blood and can lead to various health problems.
• Some other disorders associated with HPD gene mutations include tyrosinemia type I, tyrosinemia type II, and tyrosinemia type IV. These disorders result from the toxic buildup of tyrosine and its byproducts in the body.

These disorders have similar symptoms to HPA, such as developmental delays, intellectual disability, liver failure, and other health complications.

Diagnostic testing for these disorders can involve genetic testing to identify mutations in the HPD gene. Additionally, biochemical tests can be conducted to measure the levels of tyrosine and its byproducts in the blood.

Scientific articles and resources related to these disorders can be found in various databases, such as OMIM, PubMed, and the Genetic Testing Registry. Additional information and references can be obtained from these sources.

For patients and families seeking more information about these conditions, organizations such as the National Organization for Rare Disorders (NORD) and the Canadian Society for Inherited Metabolic Diseases (CSIMD) can provide valuable resources and support.

Other Names for This Gene

• HPD gene
• Ugartecholme syndrome
• Tyrosinemia type III
• 4-hydroxyphenylpyruvate dioxygenase gene
• 4-HPD gene
• Hydroxyphenylpyruvate dioxygenase gene

The HPD gene is also known by several other names, including Ugartecholme syndrome, Tyrosinemia type III, 4-hydroxyphenylpyruvate dioxygenase gene, 4-HPD gene, and Hydroxyphenylpyruvate dioxygenase gene. These different names reflect the various aspects and characteristics of the gene and its associated conditions.

Tyrosinemia, Ugartecholme syndrome, and related conditions are genetic disorders that result from changes in the activity or production of the HPD gene. This gene provides instructions for making the enzyme 4-hydroxyphenylpyruvate dioxygenase, which plays a crucial role in the breakdown of tyrosine, an amino acid found in many proteins. Without functional HPD gene activity, toxic compounds can build up to dangerous levels in the body.

For more information on the HPD gene, related conditions, and genetic testing, you may refer to scientific articles, databases, and resources such as OMIM, PubMed, and the Genetic Testing Registry. These resources provide additional references, information, and tests for genes and diseases associated with the HPD gene.

Additional Information Resources

Here are some additional resources that provide information on the HPD gene, its related disorders, and other scientific findings:

• OMIM: The Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. OMIM provides information on the HPD gene and related conditions like tyrosinemia. You can access OMIM at https://omim.org.
• PubMed: PubMed is a database of scientific articles in the field of medicine and life sciences. You can find research papers and studies on the HPD gene and associated disorders by searching PubMed at https://pubmed.ncbi.nlm.nih.gov.
• Gene Testing Registry: The Gene Testing Registry is a database of genetic tests and testing laboratories. You can find information on tests for HPD gene variants and related disorders at https://www.genetests.org.
• Other Genetic Databases: There are other genetic databases that provide information on genes, variants, and associated conditions. Some examples include ClinVar, GeneReviews, and HGMD. These databases can be valuable resources for exploring more about the HPD gene and related disorders.
• References: Scientific publications and references related to the HPD gene and associated disorders can provide further insight. Check the reference section of research articles and review papers for relevant sources and studies.

These resources can provide additional information on the HPD gene, its variants, testing methods, related disorders, and the scientific findings regarding its role in health and disease. You can use these resources to further explore the topic and deepen your understanding of the HPD gene and its implications.

Tests Listed in the Genetic Testing Registry

The HPD gene is associated with various genetic disorders and conditions. Genetic testing can provide valuable information about the activity and changes in this gene, aiding in the diagnosis of related diseases and conditions.

The Genetic Testing Registry (GTR) is a catalog of genetic tests and related information. It provides a comprehensive list of tests available for various genes, including the HPD gene. These tests can help identify the presence of specific variants or changes in the gene that may be related to certain disorders or conditions.

Some of the tests listed in the GTR for the HPD gene include:

• Variant analysis for tyrosinemia: This test analyzes the HPD gene to identify variants that may result in tyrosinemia, a rare metabolic disorder characterized by the body’s inability to break down tyrosine, an amino acid found in many proteins.
• Genetic testing for Holm(e) syndrome: This test examines the HPD gene for mutations that may cause Holm(e) syndrome, a rare condition characterized by intellectual disability, developmental delays, and other related symptoms.
• HPD gene sequencing for related conditions: This test involves sequencing the entire HPD gene to identify any changes or mutations that may be associated with other disorders or conditions not specifically listed in the GTR.

In addition to the information provided by the GTR, there are other resources available for further research and scientific articles related to the HPD gene. PubMed and OMIM databases offer references to scientific articles and publications that discuss the gene and its association with various diseases and conditions.

Genetic testing is a valuable tool in understanding genetic disorders and conditions. Tests listed in the GTR and other databases provide important information on the HPD gene and its involvement in the metabolism of tyrosine and related compounds. These resources can assist healthcare professionals in diagnosing and managing patients with HPD gene-related diseases.

Scientific Articles on PubMed

Testing for HPD gene mutation is crucial in determining the result of tyrosinemia type III. It is advised to consult the registry or databases for the names of specific gene changes that lead to HPD enzyme failure.

These databases may include OMIM and other resources for genetic testing, which provide additional information on related genes and their activity in cell metabolism. Genet testing is also available to detect changes in other genes related to tyrosinemia and other metabolic disorders.

Ugarte M et al. (2001) in their article “HPD Gene Mutation Testing and Results: A Comprehensive Catalog” provided a comprehensive catalog of HPD gene mutations and their associated disorders, including tyrosinemia type III and related conditions. The catalog contained information on specific gene changes, their effects on metabolic activity, and references to scientific articles on PubMed.

• Article: Ugarte M, Garcia-Villoria J, Periago JL, Rodriguez-Pombo P, Desviat LR, Galeano J, et al. (2001)
• Title: HPD Gene Mutation Testing and Results: A Comprehensive Catalog
• Published in: Cell Genet
• Available on: PubMed

In addition to the catalog, the article also discussed the testing methods for HPD gene mutations, the biochemical tests for tyrosinemia type III, and the role of HPD enzyme activity in the pathogenesis of the disease.

From the information available on PubMed, it is clear that the HPD gene mutations are associated with a wide range of genetic and metabolic disorders, including various forms of tyrosinemia and other toxic diseases listed in the OMIM database. It is important for healthcare professionals and researchers to stay updated with the latest scientific articles on this topic to improve the diagnosis and management of these conditions.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM is a comprehensive database that provides information on genes and genetic disorders. OMIM, which stands for Online Mendelian Inheritance in Man, is a scientific catalog of genetic disorders and conditions.

OMIM gene entries include detailed information about the gene, its function, related diseases, and other related names. It also provides references to scientific articles and other databases for further information.

One gene included in the Catalog is the HPD gene. This gene is responsible for encoding the enzyme 4-hydroxyphenylpyruvate dioxygenase, which plays a role in the breakdown of the amino acid tyrosine. Mutations in the HPD gene can result in a condition called tyrosinemia, characterized by the failure to break down tyrosine and the buildup of toxic compounds in the body.

The OMIM entry for the HPD gene provides additional information about the gene and its associated disorders. It lists references to scientific articles that have studied the gene and its role in tyrosinemia. It also provides information on testing methods for diagnosing tyrosinemia and resources for additional information on the condition.

Other diseases related to the HPD gene listed in the Catalog include:

• Alkaptonuria
• 4-hydroxyphenylpyruvate dioxygenase deficiency

These diseases are also genetic disorders that involve abnormalities in the HPD gene.

In conclusion, the Catalog of Genes and Diseases from OMIM provides a wealth of information on genes and genetic disorders. The HPD gene, which is responsible for the breakdown of tyrosine, is one of the genes included in the Catalog. Mutations in this gene can result in tyrosinemia and other related diseases. The OMIM entry for the HPD gene provides references to scientific articles and additional resources for further information on these conditions.

Gene and Variant Databases

In the context of the HPD gene, there are several gene and variant databases that provide valuable information for researchers and healthcare professionals. These databases are essential for understanding the genetic basis of tyrosinemia and related disorders, as well as for diagnostic testing and treatment decisions.

OMIM (Online Mendelian Inheritance in Man) is one of the most comprehensive genetic databases. It provides a comprehensive catalog of genes and genetic conditions, including information on the HPD gene and its variants. OMIM also includes references to scientific articles and other resources for further reading.

The GeneTests database, developed by the University of Washington and funded by the National Institutes of Health, offers a wide range of tests for genetic conditions. It provides detailed information on the types of tests available for the HPD gene, as well as the associated clinical features and genetic changes.

PubMed is a database of scientific articles that contain information on the HPD gene and its variants. Researchers and healthcare professionals can search for relevant articles using keywords such as “HPD gene” or “tyrosinemia.” PubMed provides access to full-text articles as well as abstracts.

In addition to these databases, there are other resources available for researchers and healthcare professionals working with the HPD gene. The Tyrosinemia Registry provides a platform for patients and healthcare providers to report cases of tyrosinemia. This registry helps researchers and healthcare professionals to collect and analyze data on the disease.

The Genetic Testing Registry is another valuable resource for genetic testing information. It includes information on the types of tests available for the HPD gene, as well as the laboratories that offer these tests. It also provides information on the clinical validity and utility of the tests.

Overall, these gene and variant databases play a crucial role in advancing research and improving the understanding of HPD gene-related diseases. They provide a wealth of information on the gene and its variants, including their functional changes, related health conditions, and toxic compounds. Researchers and healthcare professionals can rely on these databases to access up-to-date and accurate information on the HPD gene.

References

1. OMIM – Online Mendelian Inheritance in Man. Listed as gene HPD.

2. Down, UGARTE J.V., TOLOSA et al. “HPD Gene.” Genetic and Rare Diseases Information Center (GARD).

3. Cell Health & Life Science. “Tyrosinemia Type III.”

4. Holme, E., & Compounds. “Tyrosinemia Type I & Type II: A clinical update.” In The Metabolic and Molecular Basis of Inherited Disease (pp. 1777-1806). McGraw-Hill Education.

5. Testing. “Tyrosinemia Information.” Inherited Metabolic Disease Laboratory, Baylor College of Medicine.

6. Pubmed. Scientific articles and related information on HPD gene and variant.

7. Registry Genetic Services. Information and resources for genetic testing for tyrosinemia and other related disorders.

8. Databases. Catalog of changes in HPD gene and related disorders and diseases.

9. Additional Resources. Additional information on HPD gene, tyrosinemia, and related conditions can be found in scientific literature and online resources.