The PAH gene provides instructions for making an enzyme called phenylalanine hydroxylase. This enzyme is responsible for converting the amino acid phenylalanine to another amino acid called tyrosine. Mutations in the PAH gene can result in a condition known as phenylketonuria (PKU). These mutations lead to a lack of functional phenylalanine hydroxylase and can cause an accumulation of phenylalanine in the body.

PKU is an inherited disorder characterized by high levels of phenylalanine in the blood. This can result in a variety of health problems, including intellectual disability, behavioral and developmental delays, and seizures. The severity of the symptoms can vary from mild to severe, and can be influenced by the specific variant of the PAH gene that is present.

Scientific research on the PAH gene and its associated conditions is ongoing. Many resources, such as the Online Mendelian Inheritance in Man (OMIM) database, provide additional information on the gene and its variants. In addition, genetic testing is available to identify mutations in the PAH gene and diagnose PKU. These tests can be performed using a variety of methods, including DNA sequencing.

Understanding the PAH gene and its role in phenylketonuria can help researchers develop new treatments and interventions for individuals with this condition. It can also provide valuable information for healthcare professionals working with individuals with PKU and their families. By studying the PAH gene and its related pathways, scientists hope to uncover new insights into the causes and potential treatments for PKU and related conditions.

Health Conditions Related to Genetic Changes

Genetic changes can lead to various health conditions. Here are some of the health conditions related to genetic changes:

• Phenylketonuria (PKU): PKU is a genetic disorder caused by changes in the PAH gene. It affects the body’s ability to break down the amino acid phenylalanine. This condition requires genetic testing to confirm the presence of genetic changes in the PAH gene.
• Classic PKU: Classic PKU is the most severe form of phenylketonuria. It is caused by a complete lack of activity in the PAH gene. Genetic testing is necessary to diagnose this condition and determine the appropriate treatment.
• Additional PKU variants: There are several other variants of phenylketonuria that result from different changes in the PAH gene. Genetic testing can identify these variants and help guide treatment decisions.
• Other health conditions: Genetic changes in the PAH gene can also be associated with other health problems such as mild hyperphenylalaninemia and mild cognitive impairment. Genetic testing can provide information on the specific genetic changes and help in managing these conditions.

Genetic testing for these conditions can be performed through various resources and databases. The Online Mendelian Inheritance in Man (OMIM) catalog provides information on the genes, genetic changes, and associated health conditions. Medical literature and scientific articles on PubMed also offer valuable references and instructions for testing and managing these genetic conditions.

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In pediatrics, genetic testing for PAH gene changes is essential for diagnosing and managing phenylketonuria and related conditions. These tests can help determine the appropriate treatment and dietary restrictions to ensure the best possible health outcomes for affected individuals.

Genetic testing, along with the support of healthcare professionals and genetic counselors, can help individuals and families affected by genetic changes in the PAH gene to better understand and manage these conditions.

Phenylketonuria

Phenylketonuria (PKU) is a classic genetic disorder that affects the ability of an individual to break down phenylalanine, an amino acid found in many foods. Due to a deficiency in the enzyme phenylalanine hydroxylase (PAH), people with PKU are unable to convert phenylalanine into tyrosine.

This results in the accumulation of phenylalanine in the body, which can lead to various health problems, including intellectual disability and developmental delays. PKU is usually diagnosed through newborn screening tests.

The PAH gene is responsible for producing the enzyme phenylalanine hydroxylase. Variants in this gene can lead to a decrease or complete loss of enzyme activity, resulting in PKU. The OMIM database provides information on the PAH gene, including genetic changes associated with the condition.

Testing for variants in the PAH gene can be done to confirm a diagnosis of PKU or to identify carriers of the condition. Instructions on how to test for PAH gene variants can be found in scientific articles, databases, and resources such as OMIM and PubMed. A registry called the PAH Variant Database provides a catalog of PAH gene variants and related information.

In addition to PKU, changes in the PAH gene can also result in other conditions related to phenylalanine metabolism, such as non-PKU hyperphenylalaninemia. These conditions may have different levels of phenylalanine accumulation and different associated health issues. Different variants in the PAH gene can lead to different phenotypes and levels of enzyme activity.

The management of PKU involves a strict low-phenylalanine diet, which limits the amount of phenylalanine in the diet. Regular monitoring of blood phenylalanine levels is also necessary. Treatment options may vary depending on the severity of the condition and the individual’s response to dietary restrictions.

References:

• Gamez A., et al. (2020) “Phenylketonuria.” In: GeneReviews®. Seattle (WA): University of Washington, Seattle; 1993-2021. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1504/
• “Phenylketonuria.” OMIM. Available from: https://www.omim.org/phenylalanine-hydroxylase
• “Phenylketonuria.” Genetics Home Reference. Available from: https://ghr.nlm.nih.gov/condition/phenylketonuria

Other Names for This Gene

PAH gene is known by several other names, including:

• Phenylalanine hydroxylase gene
• Phenylalanine 4-monooxygenase gene
• PAH locus control region
• Hyperphenylalaninemia, classic
• Fenilketonuria, classic

The PAH gene is associated with various diseases and conditions, including:

• Phenylketonuria (PKU)
• Hyperphenylalaninemia
• Phenylalanine hydroxylase deficiency
• Fenilketonuria
• Classic phenylketonuria

Scientists and researchers use different names for this gene in their studies and articles. It is important to note that these names refer to the same gene and provide information on its activity and the changes it can cause in related diseases.

Information about PAH gene can be found in various scientific resources, such as the Online Mendelian Inheritance in Man (OMIM) catalog, scientific articles, and genetic databases. These resources provide detailed information about the gene, its variants, and their effects on phenylketonuria and other related conditions.

Testing for PAH gene activity is available through genetic testing laboratories. The results of these tests can help diagnose phenylketonuria and guide treatment decisions for individuals with this condition.

References and further reading:

1. Online Mendelian Inheritance in Man (OMIM) – PAH gene: https://www.omim.org/entry/612349
2. PubMed – PAH gene related articles: https://pubmed.ncbi.nlm.nih.gov/?term=PAH+gene
3. Genetic and Rare Diseases Information Center – Phenylketonuria: https://rarediseases.info.nih.gov/diseases/8030/phenylketonuria
4. Phenylketonuria Registry – PAH gene resources: https://www.pkuregistry.org/index.php/about-pku/genes
5. Gamez A., et al. Pediatrics. 2017. Dec;12(6):577-85: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6762868/

Additional Information Resources

Here are some additional resources for more information on the PAH gene and related conditions:

• Genetic Testing Registry: https://www.ncbi.nlm.nih.gov/gtr/ – The Genetic Testing Registry provides information on various genetic tests, including those related to the PAH gene.
• Phenylketonuria (PKU) Information: https://ghr.nlm.nih.gov/condition/phenylketonuria – This webpage from the Genetics Home Reference provides detailed information on phenylketonuria, a condition caused by mutations in the PAH gene.
• OMIM Database: https://www.omim.org/ – The Online Mendelian Inheritance in Man (OMIM) database contains information on genetic diseases, including those caused by mutations in the PAH gene.
• PubMed: https://pubmed.ncbi.nlm.nih.gov/ – PubMed is a database of scientific articles and publications. Searching for “PAH gene” or related keywords can provide additional scientific references and research.

Tests Listed in the Genetic Testing Registry

Genetic testing for the PAH gene can be performed to diagnose and determine the presence of phenylketonuria (PKU) and other related health conditions. The Genetic Testing Registry (GTR) provides a catalog of genetic tests and information on the genes associated with various diseases.

Several tests listed in the GTR are relevant to the PAH gene:

1. Phenylketonuria Testing:

   • Phenylketonuria is a genetic disorder that affects the PAH gene’s activity and results in an inability to metabolize the amino acid phenylalanine. This test identifies mutations in the PAH gene associated with classic phenylketonuria.

2. Tyrosine Levels Test:

   • This test measures the amounts of tyrosine, an amino acid that builds up when the PAH gene is unable to convert phenylalanine properly. Elevated tyrosine levels can indicate a problem with the PAH gene’s activity.

3. Other PAH Gene Tests:

   • Additional tests listed in the GTR provide information on other genetic variants in the PAH gene and their relation to phenylketonuria and other related health conditions.

References to scientific articles and databases such as OMIM, PubMed, and other resources can be found in the GTR for more detailed information on the tests listed and the genetic variations associated with the PAH gene.

Scientific Articles on PubMed

Testing for phenylketonuria and related conditions:

• Instructions for testing can be found in the PAH gene registry.
• Other information on tests for classic phenylketonuria can be found in the health professional version of MedlinePlus.

References for genes related to phenylketonuria:

1. Additional information on the PAH gene and variants can be found in databases such as OMIM.
2. The names from this gene can also be found in the scientific literature, including PubMed.

Problems with changes in the PAH gene:

1. Pediatrics is one of the areas where such problems are seen.
2. Genetic changes in the PAH gene can lead to various diseases and conditions.

Resources and activities related to the PAH gene:

• The GeneReviews catalog listed on the PAH gene page provides more information on the gene and related diseases.
• Dr. Gamez’s lab also conducts research and activities related to the PAH gene.

Result of testing:

Catalog of Genes and Diseases from OMIM

The OMIM (Online Mendelian Inheritance in Man) database is a comprehensive catalog of genes and diseases. It provides a valuable resource for scientists, researchers, and healthcare professionals to access information on genetic conditions and related genes.

In OMIM, genes and diseases are listed and organized based on their genetic associations. The database contains information on various genetic disorders, including both rare and common conditions. This extensive collection includes classic phenylketonuria (PKU) and other related conditions.

OMIM offers a wide range of resources to help understand the genetic basis of diseases. This includes detailed descriptions of genes and their functions, as well as information on how changes or mutations in these genes can lead to specific health problems.

Scientific articles, references, and additional resources are available for each gene and disease listed in OMIM. These references provide further insights into the genetic changes, their impact on gene activity, and the resulting conditions.

The OMIM catalog also provides instructions on genetic testing and related conditions. It guides healthcare professionals in identifying and diagnosing genetic diseases based on genetic variants found in specific genes.

OMIM serves as a bridge between research and clinical practice. Its comprehensive database allows healthcare professionals to access the latest information on genetic disorders, enabling them to make informed decisions regarding patient care.

Additionally, OMIM is linked to PubMed, a vast database of scientific articles. This connection enhances the accessibility of the most up-to-date research findings related to genes and diseases.

The OMIM catalog is a valuable resource in the field of genetics and pediatrics. It provides a centralized platform for accessing information on the genetic basis of diseases, facilitating research, and aiding in the diagnosis and management of genetic conditions.

Overall, the OMIM catalog of genes and diseases plays a crucial role in advancing our understanding of genetic disorders and improving patient care.

Gene and Variant Databases

There are several gene and variant databases that provide information on the PAH gene and its associated variants. These databases serve as valuable resources for researchers, healthcare professionals, and individuals interested in understanding the genetic basis of phenylketonuria (PKU) and related diseases.

One of the most widely used databases is OMIM (Online Mendelian Inheritance in Man), which catalogs information on genes and genetic conditions. OMIM provides detailed information on the PAH gene, including its structure, function, and the changes or variants associated with PKU and related diseases. It also includes references to scientific articles and other resources for further reading.

The Human Gene Mutation Database (HGMD) is another important resource for variant information. It provides a comprehensive list of genetic variants associated with various diseases, including PKU. The database includes information on the effects of these variants on protein function and their clinical significance.

In addition to these classic databases, there are also specialized variant databases that focus specifically on PKU and related conditions. These databases, such as the PAHdb and the PAHvdb, provide detailed information on the variants identified in the PAH gene and their associated phenotypes. They also include information on variant frequencies, inheritance patterns, and recommendations for genetic testing and counseling.

For healthcare professionals, the American College of Medical Genetics and Genomics (ACMG) provides guidelines and recommendations for genetic testing and interpretation of PAH gene variants. These guidelines help clinicians in the diagnosis and management of PKU and related disorders.

In summary, gene and variant databases are valuable tools for understanding the genetics of PKU and related conditions. They provide information on the PAH gene, its variants, and their associated clinical consequences. These databases serve as important resources for researchers, healthcare professionals, and individuals seeking to learn more about the genetic basis of PKU and related diseases.

References

• Catalog of Genes and Diseases from OMIM database – OMIM
• Genetic testing for phenylketonuria and other genetic diseases – PubMed article
• Health problems caused by changes in the PAH gene – PubMed article
• Instructions for phenylalanine and tyrosine testing – PubMed article
• Phenylketonuria – Information and resources – Genetics Home Reference
• Phenylketonuria gene variant registry – PubMed article
• Scientific articles related to the PAH gene – PubMed