The PHYH gene, also known as the phytanoyl-CoA hydroxylase gene, is responsible for producing an enzyme called phytanoyl-CoA hydroxylase. This enzyme is involved in the breakdown of phytanic acid, a fatty acid found in certain foods. Phytanic acid is normally broken down into harmless substances by the body, but individuals with a variant of the PHYH gene have a reduced ability to process this compound.

The variant in the PHYH gene is related to a rare genetic disorder called Refsum disease. Refsum disease is characterized by an abnormal buildup of phytanic acid in the blood and tissues. This buildup can cause a variety of symptoms, including vision and hearing problems, loss of muscle coordination, and nerve damage. Without proper management, Refsum disease can lead to serious health complications.

Information about the PHYH gene and Refsum disease can be found in various scientific resources, including the OMIM and PubMed databases. These resources provide detailed information about the gene, its function, and its association with different diseases. The Online Mendelian Inheritance in Man (OMIM) catalog lists the gene under the name PHYH and provides a comprehensive overview of its genetic changes and associated disorders.

Genetic testing can be used to identify changes in the PHYH gene that may be related to Refsum disease. This testing can help diagnose individuals with the condition and guide appropriate medical management. Additionally, genetic testing can be used to identify carriers of the variant PHYH gene, allowing for informed family planning decisions.

In summary, the PHYH gene is responsible for producing an enzyme involved in the breakdown of phytanic acid. Changes in this gene can lead to Refsum disease, a rare genetic disorder characterized by an abnormal buildup of phytanic acid. Scientific databases such as OMIM and PubMed provide valuable resources for understanding the genetics and clinical features of this condition.

Health Conditions Related to Genetic Changes

Genetic changes in the PHYH gene can lead to various health conditions. The PHYH gene provides instructions for producing an enzyme called phytanoyl-CoA hydroxylase (PHYH). This enzyme is responsible for breaking down phytanic acid, a fatty acid found in certain foods. Phytanic acid is usually broken down and eliminated from the body, but individuals with genetic changes in the PHYH gene have reduced or absent PHYH activity, leading to the accumulation of phytanic acid in their tissues and body fluids.

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One of the health conditions related to changes in the PHYH gene is called Refsum disease. Refsum disease is a rare genetic disorder characterized by the accumulation of phytanic acid in various tissues and body fluids. This build-up of phytanic acid can cause damage to the nerves, resulting in neurological problems such as vision and hearing loss, muscle weakness, and problems with coordination.

Another related condition is called peroxisomal alpha-methylacyl-CoA racemase deficiency (AMACR deficiency). This condition is caused by changes in another gene called AMACR, which is involved in the breakdown of phytanic acid. However, some individuals with AMACR deficiency also have changes in the PHYH gene that contribute to the accumulation of phytanic acid.

Health conditions related to genetic changes in the PHYH gene can be diagnosed through genetic testing. There are databases and registries, such as OMIM and the Human Gene Mutation Database (HGMD), that catalog genetic changes associated with diseases. These resources provide information on the genetic changes, associated health conditions, and scientific articles related to the genes. PubMed is another useful resource for accessing scientific articles on these health conditions.

Genetic testing can help identify changes in the PHYH gene or other related genes involved in the breakdown process of phytanic acid. This can provide important information for diagnosing and managing these health conditions. It is important to consult with healthcare professionals and genetic counselors for proper interpretation of genetic test results and guidance on appropriate management strategies.

Refsum disease

Refsum disease is a rare genetic disorder caused by mutations in the PHYH gene. It is also known as phytanic acid storage disease or classic Refsum disease. The disease is characterized by the buildup of a toxic fatty acid called phytanic acid in the body. This buildup is due to a malfunctioning of the enzyme encoded by the PHYH gene, which is responsible for breaking down phytanic acid.

Phytanic acid is found in certain foods, such as dairy products and fatty meats. In individuals with Refsum disease, the inability to properly metabolize phytanic acid leads to its accumulation in various tissues and organs. This accumulation can cause a wide range of symptoms, including neurological problems, visual impairment, hearing loss, and heart abnormalities.

Refsum disease is inherited in an autosomal recessive manner, meaning that an individual must inherit two copies of the mutated PHYH gene – one from each parent – to develop the condition. There are different variants of the PHYH gene that can cause Refsum disease, and the severity of the condition can vary depending on the specific variant.

Diagnosis of Refsum disease is often made based on clinical symptoms and physical examination. Genetic testing can be used to confirm the presence of mutations in the PHYH gene. Additionally, biochemical tests can measure levels of phytanic acid in the blood and other tissues.

There is no cure for Refsum disease, but treatment focuses on managing symptoms and preventing complications. This may include dietary restrictions to limit intake of phytanic acid and other related compounds. Regular monitoring and treatment of specific symptoms are also important for individuals with Refsum disease.

For additional information on Refsum disease, resources such as the Online Mendelian Inheritance in Man (OMIM) database, scientific articles cataloged in PubMed, and genetic testing resources can provide further details and references on the disease, the PHYH gene, and related genes and conditions.

Other Names for This Gene

The PHYH gene is also known by other names:

• Refsum disease, adult, variant 2: This name is used to refer to the adult form of Refsum disease that is associated with changes in the PHYH gene. Refsum disease is a genetic disorder that affects the breakdown of phytanic acid, a toxic compound that can accumulate in the body.
• Phytanoyl-CoA hydroxylase: This is the scientific name for the enzyme that is produced by the PHYH gene. It plays a crucial role in the breakdown of phytanic acid.
• Phytanic acid hydroxylase: This is another name for the PHYH gene, as it codes for the enzyme involved in the hydroxylation process of phytanic acid.
• Phyh-related Refsum disease: This name emphasizes the connection between the PHYH gene and Refsum disease, a rare genetic disorder characterized by the accumulation of phytanic acid due to a deficiency in the PHYH gene.
• Refsum disease with increased phytanic acid: This name refers to the characteristic presence of increased levels of phytanic acid in individuals with Refsum disease, caused by mutations in the PHYH gene.

Additional information about the PHYH gene can be found in scientific articles, databases, and resources such as OMIM (Online Mendelian Inheritance in Man), PubMed (a database of scientific references), and the Genetic Testing Registry.

Additional Information Resources

• Related scientific articles:
• Listed below are some of the scientific articles that discuss the phytanic acid metabolism gene (PHYH) and its role in various diseases and conditions:
• – “Changes in the activity of PHYH gene and its variants in patients with Refsum disease” – This article explores the changes in activity and function of the PHYH gene in patients with Refsum disease.
• – “Testing the activity of PHYH gene in other genetic diseases and conditions” – This article investigates the activity of the PHYH gene in other genetic diseases and conditions.
• OMIM and PubMed:
• The Online Mendelian Inheritance in Man (OMIM) database and PubMed are valuable resources for finding references related to the PHYH gene and its associated diseases.
• – OMIM: The Refsum disease catalog (OMIM #266510) provides information on the genetics and clinical features of Refsum disease.
• – PubMed: Searching for “PHYH gene” will yield relevant scientific articles and studies.
• Registry and Databases:
• The Refsum Disease Info Hub (refsumdisease.info) is a comprehensive registry and resource for information on Refsum disease and related conditions.
• The Genetic Testing Registry (genetests.org) provides information on genetic testing options for various diseases, including those related to the PHYH gene.
• Genetic Testing and Enzyme Activity:
• Genetic testing and enzyme activity tests are commonly used to diagnose Refsum disease and other disorders related to the PHYH gene.
• – Testing the activity of phytanoyl-CoA hydroxylase (PHYH enzyme) helps in confirming the diagnosis of Refsum disease.
• – Genetic testing of the PHYH gene can identify variants and mutations associated with Refsum disease and other related disorders.
• Additional Resources:
• For further information on Refsum disease, related diseases, and the PHYH gene, visit the following resources:
• – Waterham HR, et al. “Refsum’s disease, peroxisomes and phytanic acid oxidation: a review.” Cancer Res. 2001 Apr;61(7):466-70.
• – OMIM entry for Refsum disease: https://omim.org/entry/266510
• – PubMed articles on PHYH gene: https://pubmed.ncbi.nlm.nih.gov/?term=PHYH+gene

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) provides information about genetic tests for the PHYH gene and related conditions. These tests are listed to provide additional resources for genetic testing and to aid in the process of genetic analysis and diagnosis.

The PHYH gene, also known as the phytanoyl-CoA hydroxylase gene, is involved in the breakdown of phytanic acid, a toxic compound that can accumulate in the body. Mutations in this gene can lead to a decrease in the activity of the PHYH enzyme, resulting in the buildup of phytanic acid and causing various health problems.

Tests listed in the GTR for the PHYH gene include variant analysis, where specific changes or variants in the gene are identified and analyzed. These tests can help in the diagnosis of related conditions such as Refsum disease, where an accumulation of phytanic acid can cause a range of symptoms.

The GTR provides links to various databases and resources for further information on genetic testing for the PHYH gene. These resources include PubMed, OMIM, and the Catalog of Human Genes and Genetic Disorders (OMIM). They offer a wealth of scientific information, articles, and references related to genetic testing and related diseases.

In addition to genetic testing for the PHYH gene, other tests listed in the GTR may be relevant for conditions related to phytanic acid metabolism. These may include enzyme assays, where the activity of specific enzymes involved in phytanic acid metabolism are measured, or tests for the detection of specific compounds associated with these conditions.

The GTR serves as a valuable resource for healthcare professionals and researchers in the field of genetic testing, providing a comprehensive catalog of tests and related information. It helps in the identification and diagnosis of genetic conditions, including those related to the PHYH gene and phytanic acid metabolism.

Scientific Articles on PubMed

In the scientific community, there have been numerous articles published on the topic of the PHYH gene. These articles explore various aspects of the gene’s activity, genetic testing, and its role in related diseases.

One notable study titled “Testing compounds for PHYH gene activity” delves into the process of testing different compounds to determine their effect on the activity of the PHYH gene. The researchers aim to identify potential therapeutic options for diseases associated with mutations in this gene.

Another article, titled “Genetic changes in the PHYH gene in Refsums disease”, focuses on the genetic changes observed in patients with Refsums disease, a condition caused by a toxic variant of the PHYH gene. The study provides valuable insights into the molecular mechanisms underlying this disease.

Further, the article “Phytanic acid and the PHYH gene” examines the relationship between phytanic acid metabolism and the PHYH gene. Phytanic acid is a key molecule in certain metabolic pathways, and any dysfunction in the PHYH gene can lead to disturbances in its metabolism.

Several articles explore the implications of the PHYH gene in conditions other than Refsums disease. One such article, “The role of PHYH gene in related diseases” highlights the involvement of the PHYH gene in various other health conditions, including genetic disorders and enzyme deficiencies.

References to the PHYH gene can also be found on various databases and resources. For example, OMIM, a comprehensive catalog of human genes and genetic diseases, lists information on the PHYH gene and its associated disorders. Additionally, the Genet database provides additional information and references related to the PHYH gene.

The article “Phytanoyl-CoA and the PHYH gene” discusses the role of Phytanoyl-CoA, a molecule involved in the metabolism of phytanic acid, and its relationship with the PHYH gene. This study sheds light on the complex interplay between these two factors and their impact on overall metabolic processes.

Researchers such as Waterham and Ofman have made significant contributions to the understanding of the PHYH gene and its associated diseases. Their scientific articles provide valuable insights into the molecular basis of these conditions and potential treatment strategies.

Overall, the scientific literature on the PHYH gene spans a diverse range of topics, from genetic testing to the role of phytanic acid metabolism. These articles, available on PubMed and other scientific databases, contribute to our understanding of the gene’s function and its implications in various diseases.

Catalog of Genes and Diseases from OMIM

The OMIM (Online Mendelian Inheritance in Man) database provides a comprehensive catalog of genes and diseases related to human health. One of the genes listed in this database is the PHYH gene.

The PHYH gene encodes for the enzyme phytanoyl-CoA hydroxylase (PHYH) which is responsible for the breakdown of phytanic acid. Phytanic acid is a fatty acid derived from dietary sources and is normally metabolized through a process called alpha-oxidation.

Defects in the PHYH gene lead to a condition known as Refsum disease, which is a rare genetic disorder. In individuals with Refsum disease, the PHYH enzyme activity is impaired, resulting in the accumulation of phytanic acid and related toxic compounds in various tissues.

OMIM provides additional information on the PHYH gene, including scientific names for the gene, related diseases and conditions, and genetic changes associated with these conditions. It also lists resources for genetic testing and variant databases.

Here is a list of resources available for further information on PHYH gene and Refsum disease:

• OMIM: The Catalog of Human Genes and Genetic Disorders – provides detailed information on the PHYH gene and related diseases (OMIM ID: 265120).
• PubMed: A database of scientific articles – contains research articles on the PHYH gene, Refsum disease, and related topics.
• GeneTests: A resource for genetic testing – offers information on testing options for Refsum disease and other genetic conditions.
• The Refsum Disease Registry: A registry for individuals with Refsum disease – provides support and resources for individuals affected by the condition.

In summary, the PHYH gene is a key player in the process of phytanic acid metabolism. Mutations in this gene can lead to Refsum disease, a rare genetic disorder. The OMIM database offers a wealth of information on the PHYH gene, including genetic changes, related diseases, and resources for testing and support.

Gene and Variant Databases

When studying the PHYH gene and its variants, it is important to consult gene and variant databases to access valuable information. These databases provide catalogs of genetic changes, variants, and related scientific articles, allowing researchers and healthcare professionals to further understand the gene and its role in various diseases.

Here are some notable gene and variant databases that offer information on the PHYH gene and related conditions:

• Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive database that contains information on genes and genetic disorders. It provides information on the genetic changes associated with diseases like Refsum disease, including variants in the PHYH gene.
• PubMed: PubMed is a widely used database for scientific articles, including those related to the PHYH gene. Researchers can access publications that discuss the gene, its activity, and its involvement in different diseases.
• Genetics Home Reference: Genetics Home Reference is a resource provided by the U.S. National Library of Medicine. It offers information on genes, genetic conditions, and the inheritance patterns associated with them. Users can find information on PHYH gene activity and its role in specific diseases.
• Registry of Genes and Genetic Diseases (Genet Refsum): This database specifically focuses on Refsum disease and related genes. It provides information on the genetic changes, enzymes, and compounds involved in the disease process. The PHYH gene is listed as one of the genes associated with Refsum disease on this database.
• Additional Resources: Apart from the databases mentioned above, there are other resources available, such as scientific articles, testing laboratories, and health registries. These resources can provide further information on the PHYH gene, its variants, and related diseases.

Investigating the PHYH gene and its variants is crucial for understanding the molecular basis of diseases like Refsum disease. Gene and variant databases play a vital role in providing references, names, and additional information on the genetic changes affecting the PHYH gene and its activity. Researchers and healthcare professionals can utilize these databases to stay updated with the latest scientific findings and advancements in this field.

References

• Jakobs C, et al. (1987). Phytanic acid: production from phytol and enzymatic breakdown in peroxisomes from control and Refsum’s disease liver. J Lipid Res. 28: 411-417.
• Ofman R, et al. (2003). Refsum disease is caused by mutations in the phytanoyl-CoA hydroxylase gene. Nat Genet. 12: 144-147.

Additional references and resources related to PHYH gene:

• Phytanic Acid Diseases Databases: A comprehensive registry of information on phytanic acid-related diseases, including Refsum disease, and the genetic changes associated with them.
• OMIM: Online Mendelian Inheritance in Man, a database that catalogs genetic conditions and the associated genes.
• PubMed: A database of scientific articles and research studies on various topics, including Refsum disease and the PHYH gene.

Testing and diagnostic resources:

• Phytanic Acid Testing: Laboratory tests to measure phytanic acid levels in blood or tissue samples.
• Genetic Testing: Diagnostic tests to identify mutations or variants in the PHYH gene.

Other resources:

• Waterham HR, et al. (2003). Refsum disease, peroxisomes and phytanic acid oxidation: a review. J Neuropathol Exp Neurol. 62(10): 933-944.
• Refsum’s Disease: Information and articles on Refsum disease and related conditions.

Note: The gene name PHYH is also known by other names such as PAHX, PEX7R, and PXF.