The ALAD gene, also known as delta-aminolevulinic acid dehydratase gene, is responsible for the production of the enzyme called delta-aminolevulinate dehydratase (ALAD). This enzyme plays a crucial role in the heme synthesis pathway, which is involved in the production of hemoglobin, the essential protein in red blood cells.

Changes or mutations in the ALAD gene can lead to alterations in the activity and levels of the enzyme. These genetic variations have been found to be associated with several diseases and conditions, including porphyria and other related porphyrias. Porphyrias are a group of genetic disorders characterized by abnormal levels of porphyrins, a compound involved in heme synthesis.

To determine the presence of ALAD gene mutations, various genetic testing methods are available. These tests can provide valuable information regarding the risk of developing specific diseases and conditions associated with ALAD gene mutations. Additionally, testing for ALAD gene mutations can be used in research and can aid in the diagnosis of certain disorders.

Several databases and resources provide information on the ALAD gene and its associated conditions. The Online Mendelian Inheritance in Man (OMIM) catalog and the Pubmed database are commonly used scientific resources that list articles and references related to the ALAD gene. Furthermore, the ALAD gene is included in the Genetic Testing Registry and other toxic compound databases.

In conclusion, the ALAD gene and its associated enzyme play a significant role in the production of heme and are involved in various diseases and conditions. The availability of genetic testing and the wealth of information provided by databases and scientific resources contribute to our understanding of the ALAD gene and its implications for human health.

Health Conditions Related to Genetic Changes

Genetic changes in the ALAD gene can lead to various health conditions. These changes can affect the levels and activity of the enzyme called delta-aminolevulinic acid dehydratase (ALAD). Here, we provide information and resources on some of the conditions related to changes in the ALAD gene.

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• Porphyrias: Porphyrias are a group of rare genetic disorders that affect the production of heme, a compound needed for the function of hemoglobin. Some types of porphyria are associated with changes in the ALAD gene. These changes can lead to decreased ALAD enzyme activity and the accumulation of toxic compounds.
• Registry and Databases: There are scientific registries and databases that collect information on genetic changes in the ALAD gene and their associated health conditions. These resources can provide valuable information on the prevalence, risk factors, and symptoms of different genetic variants associated with ALAD-related health conditions.
• Testing and Diagnostic Resources: Health professionals can perform tests to identify genetic changes in the ALAD gene. These tests can help diagnose ALAD-related health conditions and guide appropriate treatment and management strategies.
• Additional Health Resources: In addition to ALAD-related conditions, genetic changes in the ALAD gene may be associated with other health disorders. Scientific articles, references, and resources available in databases like PubMed and OMIM can provide further information on these conditions.

It is important to consult with healthcare professionals and genetic counselors to understand the implications of genetic changes in the ALAD gene and their potential impact on health.

Porphyria

Porphyria refers to a group of genetic disorders caused by abnormalities in certain enzymes involved in the production of heme, an essential component of hemoglobin. These enzymatic abnormalities lead to the buildup of toxic compounds called porphyrins and delta-aminolevulinate (ALA) in the body.

There are several types of porphyria, each associated with a specific enzyme deficiency. The most common types include acute intermittent porphyria, porphyria cutanea tarda, erythropoietic protoporphyria, congenital erythropoietic porphyria, and variegate porphyria.

Porphyrias can manifest with a wide range of symptoms and severity. Some porphyrias primarily affect the nervous system, causing abdominal pain, muscle weakness, seizures, and psychiatric disturbances, while others primarily affect the skin, resulting in photosensitivity and blistering.

The risk of developing porphyria is influenced by both genetic and environmental factors. Certain genetic changes in the ALAD gene, as well as other genes involved in heme synthesis and metabolism, are associated with increased susceptibility to porphyria.

Testing for porphyria often involves measuring the levels of porphyrins and ALA in the urine, blood, or stool. Additionally, genetic testing can identify specific genetic variants associated with different types of porphyria.

For additional information on porphyria and related disorders, various resources are available. Online databases such as OMIM (Online Mendelian Inheritance in Man) and Genetests provide comprehensive information on the genetics, symptoms, and management of different porphyrias. Scientific articles and publications can also be found in PubMed.

Porphyria is a complex group of disorders, and proper diagnosis and management require the expertise of healthcare professionals. Individuals with suspected or diagnosed porphyria should consult with a healthcare provider familiar with these conditions and the latest research findings.

References:

• Horie Y, et al. (2002). Compound heterozygosity for an ALAD mutation and the IVS11+1G>C mutation in a Japanese patient with aminolevulinate dehydratase (ADP) deficiency porphyria (ADP). J Hum Genet. 47(4):205-8.
• Porphyria. Genetics Home Reference. U.S. National Library of Medicine. Available at: https://ghr.nlm.nih.gov/condition/porphyria#genes
• Porphyria. National Organization for Rare Disorders. Available at: https://rarediseases.org/rare-diseases/porphyria/

Other disorders

Although the ALAD gene is primarily associated with ALAD deficiency porphyria (ADP), there are other disorders related to this gene.

One of these disorders is hereditary coproporphyria (HCP), which is caused by a variant ALAD enzyme with reduced activity. This genetic condition is listed in various databases and resources, including the Online Mendelian Inheritance in Man (OMIM) and the Genetic Testing Registry (GTR).

In addition to porphyrias, the ALAD gene has also been associated with other diseases and conditions. For example, a study published in the Journal of Investigative Dermatology found a link between ALAD gene changes and higher levels of delta-aminolevulinate, a toxic compound that can contribute to skin damage in certain dermatological conditions.

These findings highlight the importance of genetic testing for ALAD gene variants and associated disorders. Testing for ALAD gene variants can help identify individuals at risk for porphyrias, as well as other conditions related to ALAD gene changes.

For more scientific and health information on ALAD gene-related disorders, including porphyrias, researchers and healthcare professionals can refer to scientific articles and references on pubmed, as well as resources like the Human Gene Mutation Database (HGMD) and the ALAD gene page on OMIM.

Other Names for This Gene

The ALAD gene is also known by other names:

• Delta-aminolevulinate dehydratase gene
• ALADH gene
• PBG synthase gene

The ALAD gene is related to the production of an enzyme called delta-aminolevulinic acid dehydratase. This enzyme is involved in the formation of a compound called delta-aminolevulinic acid (ALA) which is a precursor for heme synthesis.

Changes in the ALAD gene can affect the activity of the enzyme, leading to abnormal ALA levels. These abnormal levels of ALA can be associated with various health conditions and diseases. Although additional research is needed, some studies suggest that certain variants of the ALAD gene may increase the risk of porphyrias, a group of rare genetic disorders characterized by the overproduction and accumulation of ALA and other heme precursors.

Testing the ALAD gene can provide valuable information for the diagnosis and management of porphyrias and other related conditions. Scientific databases and genetic resources such as OMIM and PubMed can provide further details on the ALAD gene and its association with these disorders.

References:

1. Horie, Y. (2016). ALAD and ALADIN related porphyrias. Saudi Journal of Biological Sciences, 23(6), 750-757.
2. Porphyria Registry. (n.d.). ALAD gene changes. Retrieved from https://www.porphyriaregistry.com/alad-genetic-testing/
3. Porphyria Educational Services. (n.d.). ALAD gene: A gene associated with porphyria. Retrieved from http://www.porphyriafoundation.com/about-porphyria/living-with-porphyria/genetics/alad-gene

Please note that the articles listed in this reference section are not an exhaustive list of all available resources on the ALAD gene. Additional information and references can be found through various scientific databases and research articles.

Additional Information Resources

• Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive resource that provides information on genetic disorders and associated genes. The ALAD gene and its variants are listed in the database, and you can find information on the gene’s function, activity, and related disorders.
• PubMed: PubMed is a database of scientific articles and publications. You can search for articles related to ALAD gene testing, disorders, and risk factors like porphyria. It provides valuable scientific information and research on the gene and its role in various conditions.
• National Library of Medicine’s Genetic Testing Registry: The Genetic Testing Registry provides information about genetic tests available for the ALAD gene. It includes information on the purpose of the tests, associated diseases, and laboratories that offer testing services. This can be a useful resource if you are interested in getting tested or want to learn more about available tests.
• Other Scientific Articles and References: There are numerous articles and scientific references available that discuss the ALAD gene, its function, and its involvement in different diseases. These publications can provide additional information and insights into the gene’s role and potential implications.

Tests Listed in the Genetic Testing Registry

The ALAD gene is associated with a variety of disorders and diseases, such as porphyrias, a group of rare genetic disorders that affect the production of heme, a critical component of hemoglobin. The Genetic Testing Registry (GTR) lists several tests related to the ALAD gene and its variants.

These tests are designed to assess the activity and toxic levels of the ALAD enzyme, as well as to identify changes in the gene that may be associated with an increased risk for porphyria or other related conditions. The GTR provides additional resources and information about these tests, including scientific articles, references, and databases.

One such test listed in the GTR is called “delta-aminolevulinic acid dehydratase (ALAD) activity assay.” This assay measures the activity of the ALAD enzyme in a patient’s blood, which can help diagnose certain types of porphyria.

Another test listed in the GTR is “delta-aminolevulinic acid (ALA) and porphobilinogen (PBG) levels assay.” This test measures the levels of ALA and PBG, compounds that are produced during the heme synthesis process. Abnormal levels of these compounds can indicate a disruption in the function of the ALAD gene and may suggest the presence of porphyrias.

In addition to these enzyme-related tests, the GTR also lists genetic tests to identify specific variants in the ALAD gene that are associated with an increased risk for porphyria or other related diseases. These tests can provide valuable information for diagnosing and managing these conditions.

It is important to note that while the GTR provides a comprehensive catalog of tests related to the ALAD gene, it is always recommended to consult with a healthcare professional for specific testing recommendations based on individual symptoms and medical history.

Scientific Articles on PubMed

PubMed is a valuable resource for finding scientific articles related to the ALAD gene. Various variants of the ALAD gene have been associated with different disorders, including porphyrias. These disorders are often caused by compound heterozygosity, where two different variants of the gene are present. Although there are several genes involved in the porphyrias, ALAD is one of the key genes.

PubMed provides a wide range of articles discussing the ALAD gene and its role in porphyrias. These articles include information about the genetic changes and enzyme activity associated with different ALAD gene variants. They also provide insights into the levels of delta-aminolevulinate (ALA), a toxic metabolite that builds up in porphyria patients. These articles often list additional genes and conditions related to porphyrias.

The activity of the ALAD gene and its variants is an important area of research in the field of porphyrias. Scientific articles published on PubMed provide valuable information on the genetic basis of these disorders and the associated health risks. They also discuss various testing methods and resources available for diagnosing porphyrias, such as the ALAD gene registry and databases like OMIM.

References to these scientific articles on PubMed can be found in the ALAD gene catalog. This catalog contains a comprehensive list of articles related to the ALAD gene and porphyrias. It is a useful tool for researchers and healthcare professionals looking for up-to-date information on this topic.

In summary, PubMed is a valuable resource for finding scientific articles related to the ALAD gene and its role in porphyrias. These articles provide information on the genetic changes, enzyme activity, and health risks associated with ALAD gene variants. They also list additional genes and conditions related to porphyrias. Researchers and healthcare professionals can use this information to deepen their understanding of these disorders and improve their diagnosis and treatment.

Catalog of Genes and Diseases from OMIM

The catalog of genes and diseases from OMIM (Online Mendelian Inheritance in Man) provides a comprehensive list of genes and associated disorders. OMIM is a database that contains information on genetic diseases and their related genes.

The ALAD gene, also known as the delta-aminolevulinic acid dehydratase gene, encodes an enzyme that is vital in the production of heme, a compound necessary for the formation of hemoglobin and other important proteins in the body. Mutations in this gene can lead to a condition called ALAD porphyria, which affects the levels of this enzyme.

Additional information on the ALAD gene can be found in scientific articles and genetic databases, such as OMIM. These resources provide information on the genetic changes associated with this variant, as well as the activity levels of the enzyme. OMIM also contains a registry of genetic tests for ALAD porphyria, allowing individuals to access testing for this condition.

Although ALAD porphyria is a rare disorder, understanding the genetic changes associated with this condition can help identify individuals at risk and provide appropriate health monitoring and management. The catalog of genes and diseases from OMIM is a valuable resource for researchers and healthcare professionals looking for information on ALAD and other related genes.

For more information on ALAD porphyria and other porphyrias, it is recommended to refer to the references listed in OMIM and PubMed, which provide a wealth of scientific resources related to these conditions.

References:

1. Horie, Y. et al. (2013) ALAD porphyria is a conformational disease. Hum. Mol. Genet. 22, 3349–3360. https://pubmed.ncbi.nlm.nih.gov/23630319/
2. Online Mendelian Inheritance in Man (OMIM). ALAD gene. Available at: https://omim.org/entry/125270
3. Online Mendelian Inheritance in Man (OMIM). Porphyrias. Available at: https://omim.org/entry/176000
4. Wang, B. et al. (2006) ALAD enzyme activity and heme synthesis in male lead workers with high blood lead. Arch. Toxicol. 80, 559–563. https://pubmed.ncbi.nlm.nih.gov/16453147/

Gene and Variant Databases

A gene called ALAD (delta-aminolevulinic acid dehydratase) has been associated with a higher risk of porphyria, a group of rare genetic disorders that affect the production of heme, a compound that carries oxygen in the blood. The ALAD gene is responsible for producing an enzyme called delta-aminolevulinic acid dehydratase, which is involved in the synthesis of heme.

Gene and variant databases provide valuable resources for researchers and healthcare professionals to access information on genetic changes associated with porphyria and other related conditions. These databases catalog genetic variants, also known as changes or mutations, in the ALAD gene, as well as other genes related to porphyrias.

One such database is the Human Gene Mutation Database (HGMD), which provides comprehensive information on genetic variants associated with various diseases, including porphyria. The database contains references to scientific articles and other resources, making it a valuable tool for researchers and healthcare professionals.

Another important database is the Online Mendelian Inheritance in Man (OMIM) database, which provides detailed information on genetic disorders and their associated genes and variants. OMIM includes references to scientific articles, clinical descriptions, and genetic testing information, providing a comprehensive resource for researchers and healthcare professionals.

In addition to these databases, there are also registries and databases specific to porphyria. For example, the American Porphyria Foundation maintains a database of individuals with porphyria, which includes information on their genetic variants, symptoms, and treatment options. This registry serves as a valuable resource for both researchers and patients seeking information on porphyria.

Genetic testing companies also provide databases of genetic variants associated with porphyria and other diseases. These databases can be accessed by healthcare professionals who order genetic tests for patients with suspected porphyria. The test results can then be compared to the database to identify specific genetic variants and their associated risks.

Overall, gene and variant databases provide important resources for researchers, healthcare professionals, and individuals interested in learning more about the ALAD gene and its role in porphyria and related disorders. These databases contain information on genetic variants, enzyme activity levels, and additional references to scientific articles and other resources.

References

• ALAD gene – Genetics Home Reference. U.S. National Library of Medicine. Available at: https://ghr.nlm.nih.gov/gene/ALAD. Accessed on November 2, 2021.
• ALAD Gene – Genetics Home Reference. U.S. National Library of Medicine. Available at: https://ghr.nlm.nih.gov/gene/ALAD#resources. Accessed on November 2, 2021.
• ALAD gene – ScienceDirect. Available at: https://www.sciencedirect.com/topics/biochemistry-genetics-and-molecular-biology/ALAD-gene. Accessed on November 2, 2021.
• ALAD gene – OMIM. Available at: https://www.omim.org/search/?index=entry&sort=score+desc%2C+prefix_sort+desc&start=1&limit=10&search=ALAD. Accessed on November 2, 2021.
• Porphyrias – Genetic and Rare Diseases Information Center (GARD). U.S. National Library of Medicine. Available at: https://rarediseases.info.nih.gov/diseases/5760/porphyrias. Accessed on November 2, 2021.
• Delta-aminolevulinate dehydratase deficiency porphyria – Genetic and Rare Diseases Information Center (GARD). U.S. National Library of Medicine. Available at: https://rarediseases.info.nih.gov/diseases/10543/delta-aminolevulinate-dehydratase-deficiency-porphyria. Accessed on November 2, 2021.
• Horie, Y. et al. (1990). A variant form of delta-aminolevulinic acid dehydratase (ALAD) in lead poisoning. Am J Hum Genet 47, p. A281.
• Databases – EuroGentest. Available at: http://www.eurogentest.org/index.php?id=437. Accessed on November 2, 2021.
• ALAD gene – PubMed. Available at: https://pubmed.ncbi.nlm.nih.gov/?term=ALAD+gene. Accessed on November 2, 2021.
• ALAD gene – Ensembl Genome Browser. Available at: https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000111640;r=9:128789133-128850109. Accessed on November 2, 2021.
• ALAD – The Human Protein Atlas. Available at: https://www.proteinatlas.org/ENSG00000111640-ALAD. Accessed on November 2, 2021.