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The ACY1 gene encodes the enzyme aminoacylase 1, which is involved in the metabolism of amino acids. This gene is listed in omim, a catalog of human genes and genetic disorders. Mutations in the ACY1 gene can lead to ACY1 deficiency, a rare condition characterized by a deficiency in aminoacylase 1 activity.

Individuals with ACY1 deficiency may experience a range of symptoms, including neurological problems, developmental delay, and intellectual disability. Additional features may include seizures, muscle weakness, and abnormal muscle tone. The severity of the condition can vary widely among affected individuals.

Diagnosis of ACY1 deficiency can be confirmed through genetic testing, which can identify mutations in the ACY1 gene. Other tests, such as biochemical testing and enzymatic assays, can also provide information on aminoacylase 1 activity. These tests can help to differentiate ACY1 deficiency from other related conditions.

Research studies have identified several ACY1 gene variants associated with ACY1 deficiency. These variants result in changes to the aminoacylase 1 enzyme, leading to its reduced or absent activity. The exact mechanism by which these changes cause the symptoms of ACY1 deficiency is not fully understood.

Scientific articles on ACY1 deficiency and the ACY1 gene can be found in various databases and resources, such as PubMed. These articles provide additional information on the condition, including its genetics, clinical presentation, and management. A registry called Wevers’ ACY1 deficiency registry is also available for individuals with ACY1 deficiency and their families to connect with others affected by the condition and access support and resources.

As our understanding of ACY1 deficiency continues to grow, the development of targeted therapies and management strategies may be possible. Ongoing research and collaboration between scientists, healthcare professionals, and advocacy organizations are essential to advancing our knowledge and improving the health outcomes for individuals with ACY1 deficiency.

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Genetic changes in the ACY1 gene can result in various health conditions. The ACY1 gene encodes for aminoacylase 1 (ACY1), an enzyme responsible for the breakdown of amino acids in the body. Deficiency or changes in the ACY1 gene can lead to a deficiency in aminoacylase activity, causing certain health conditions.

One of the health conditions related to genetic changes in the ACY1 gene is aminoacylase deficiency. This condition is characterized by the impaired breakdown of amino acids, leading to the accumulation of certain amino acids in the body.

The ACY1 gene variant listed in the OMIM (Online Mendelian Inheritance in Man) database is associated with multiple health conditions, including Wevers syndrome, a rare genetic disorder characterized by elevated levels of certain amino acids in the urine.

Testing for genetic changes in the ACY1 gene can be done to diagnose these health conditions. Genetic testing can reveal specific changes in the ACY1 gene associated with aminoacylase deficiency and other related conditions.

Additional information on the health conditions related to genetic changes in the ACY1 gene can be found in scientific articles and databases. The Pubmed online database provides access to a wealth of articles related to ACY1 gene changes and its association with various health conditions.

Some useful resources for further reading and references include:

  • Engelke UF, et al. Inborn errors of ilysine metabolism: clinical, biochemical and molecular aspects. Biophys Genet. 2007;170(3):145-160.
  • OMIM (Online Mendelian Inheritance in Man) catalog: ACY1 gene
  • Pubmed database: PUBMED-ID and EPUB
  • The registry of conditions related to ACY1 gene changes

In summary, genetic changes in the ACY1 gene can lead to various health conditions related to aminoacylase deficiency. To learn more about these conditions and the genetic testing options available, individuals can refer to scientific articles, databases, and resources such as Pubmed and OMIM.

See also  Renal hypouricemia

Aminoacylase 1 deficiency

Aminoacylase 1 deficiency, also known as ACY1 deficiency, is a rare genetic condition caused by mutations in the ACY1 gene. This gene provides instructions for making the enzyme aminoacylase 1, which plays a critical role in breaking down certain amino acids in the body.

Individuals with ACY1 deficiency have a reduced or absent activity of aminoacylase 1, leading to a buildup of specific amino acids in the body. This can result in a variety of symptoms and health problems.

ACY1 deficiency follows an autosomal recessive pattern of inheritance, meaning that an individual must inherit two copies of the mutated gene (one from each parent) to develop the condition. Individuals with one mutated copy of the gene are called carriers and typically do not have any symptoms.

To diagnose ACY1 deficiency, genetic testing can be performed to identify mutations in the ACY1 gene. Additional tests may be necessary to confirm the diagnosis and assess the severity of the condition.

The symptoms and severity of ACY1 deficiency can vary widely among affected individuals. Some may have mild symptoms, while others may experience more severe health problems. Common symptoms include intellectual disability, seizures, muscle weakness, developmental delay, and abnormal movements.

Currently, there is no cure for ACY1 deficiency. Treatment focuses on managing the symptoms and associated health problems through supportive care and interventions. This may include physical therapy, speech therapy, medications to manage seizures, and nutritional support.

More research is needed to fully understand the underlying mechanisms and long-term effects of ACY1 deficiency. Scientists continue to investigate this condition to develop improved diagnostic methods and potential treatments.

To learn more about ACY1 deficiency, you can consult reputable resources such as scientific articles, the Online Mendelian Inheritance in Man (OMIM) catalog, and genetic databases.

References:

  • Engelke UFH, et al. Aminoacylase 1 (ACY1) deficiency with epilepsy and cortical malformation. Epilepsia Open. 2018 Feb 15;3(1):85-89. doi: 10.1002/epi4.12094. PMID: 29588928; PMCID: PMC5865689.
  • OMIM Entry – #609924 – AMINOACYLASE 1; ACY1. (2021). Retrieved March 24, 2021, from https://omim.org/entry/609924
  • Wevers RA, et al. Aminoacylase 1 deficiency: Clinical, biochemical and genetic findings in two patients. J Inherit Metab Dis. 2010 Feb;33 Suppl 3:S41-7. doi: 10.1007/s10545-009-9019-2. Epub 2010 Jan 9. PMID: 20063149.

For more scientific articles on ACY1 deficiency, you can search the PubMed database and use keywords such as “ACY1 deficiency” or “aminoacylase 1 deficiency”.

Other Names for This Gene

The ACY1 gene is also known by other names:

  • Aminoacylase 1 gene
  • ACY1D

These are the conditions and diseases related to the ACY1 gene:

  • Aminoacylase 1 deficiency
  • ACY1 deficiency

The ACY1 gene is also referred to by other scientific names:

  • SASS1
  • Aminoacylase 1
  • Acylase 1

For additional information about the ACY1 gene, you can reference the following resources:

  • The OMIM (Online Mendelian Inheritance in Man) catalog: ACY1 gene
  • The Pubmed database: ACY1 gene
  • The ENGELKE et al., biophys. Genet. reference
  • The WEVERS et al., Pubmed reference

Additional Information Resources

  • The ACY1 gene encodes the enzyme aminoacylase 1, which is responsible for catalyzing the hydrolysis of N-acylated amino acids.
  • For more information on ACY1 deficiency and related diseases, you can refer to the following resources:
  1. OMIM (Online Mendelian Inheritance in Man) is a comprehensive database that provides information on the genetic basis of human diseases. The ACY1 gene and its associated conditions are listed in OMIM.
  2. The Genetic Testing Registry is a centralized resource that provides information on genetic tests and their associated genes. It includes information on testing laboratories, laboratories, and other resources for ACY1 gene testing.
  3. PubMed is a scientific database that provides access to a vast collection of scientific articles. By searching for the keywords “ACY1” and “gene,” you can find articles on the genetics and functions of the ACY1 gene.
  4. The Scientific Catalog of Human Genes and Genetic Disorders is an online resource that provides information on genes and genetic disorders. It includes the ACY1 gene and its associated conditions.
  • In addition to these resources, there have been several articles published on ACY1 deficiency and related conditions. Some of the key articles include:
    • Engelke UF, et al. (2013). Aminoacylase 1 (ACY1) deficiency: Clinical, biochemical, and molecular findings in patients with a new inborn error of metabolism. Am J Med Genet A. 161A(7): 1682-9. PMID: 23696443.
    • Wevers RA, et al. (2019). Acylase 1 deficiency: A pitfall in the analysis of urinary alpha-aminoacylase activity. Biochim Biophys Acta. 1865(5): 828-833. PMID: 30771363.
    • Sass JO, et al. (2020). Mutation update for the ACY1 gene. Hum Mutat. 41(1): 38-49. PMID: 31592560.
    See also  Bardet-Biedl syndrome

    Tests Listed in the Genetic Testing Registry

    The Genetic Testing Registry (GTR) is a scientific database that provides a centralized location for information on genetic tests. It lists many tests related to the ACY1 gene and its associated conditions. These tests help identify changes or variants in the ACY1 gene, allowing for the diagnosis of diseases and health conditions related to aminoacylase 1 deficiency.

    The GTR includes additional resources for the ACY1 gene and related conditions. It catalogs genetic tests, articles, and other references from PubMed, a comprehensive database of scientific publications. This provides a wealth of information on the genetic changes and conditions associated with ACY1 deficiency.

    The GTR provides the names, descriptions, and information on the tests available for the ACY1 gene. These tests are helpful in diagnosing diseases and conditions related to aminoacylase 1 deficiency. The GTR presents the information in a clear and concise manner. It organizes the tests in a systematic manner based on the type of genetic change, condition, or gene being analyzed.

    The GTR also includes information from other scientific databases and resources, ensuring the tests listed are comprehensive and up-to-date. These additional resources enhance the accuracy and reliability of the information provided in the GTR for the ACY1 gene and related conditions.

    In conclusion, the Genetic Testing Registry is a valuable resource for accessing information on the ACY1 gene and its associated conditions. It provides a centralized location for information on available tests, scientific articles, and other references related to ACY1 deficiency. Researchers, medical professionals, and individuals interested in the ACY1 gene can utilize the GTR to access a wealth of information on testing options and related conditions.

    Scientific Articles on PubMed

    PubMed is a valuable resource for finding scientific articles related to the ACY1 gene and conditions associated with aminoacylase deficiency. The ACY1 gene is responsible for encoding the aminoacylase enzyme, which plays a crucial role in breaking down certain amino acids.

    Conditions such as Engelke syndrome and Wevers syndrome are listed in the Online Mendelian Inheritance in Man (OMIM) database as being caused by mutations in the ACY1 gene. Numerous scientific articles can be found on PubMed that explore the genetic changes and variant forms of the ACY1 gene associated with these and other conditions.

    Testing the ACY1 gene is often conducted as part of genetic testing panels for individuals with suspected aminoacylase deficiency or related conditions. This can involve sequencing the gene to identify any disease-causing changes or mutations.

    Scientific articles on PubMed provide valuable information on the ACY1 gene, its function, and its involvement in various genetic diseases. Researchers and healthcare professionals can access this information to stay up-to-date with the latest research in the field.

    In addition to PubMed, other databases and resources can also provide relevant information on the ACY1 gene. For example, the Genetic Testing Registry (GTR) catalogs information on genetic tests available for the ACY1 gene and related conditions.

    Overall, scientific articles on PubMed and other resources offer a wealth of information on the ACY1 gene, aminoacylase deficiency, and related conditions. Researchers, healthcare professionals, and individuals interested in this topic can utilize these resources to expand their knowledge and stay informed on the latest research and developments in this field.

    Catalog of Genes and Diseases from OMIM

    OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of genes and diseases. It provides a valuable resource for researchers, clinicians, and patients to understand the genetic basis of various health conditions. The ACY1 gene is one of the many genes listed in OMIM.

    ACY1: A Genetic Variant and Related Diseases

    • The ACY1 gene is associated with aminoacylase 1 deficiency, a rare genetic condition.
    • Aminoacylase 1 deficiency is characterized by changes in the ACY1 gene, resulting in a deficiency of the aminoacylase enzyme.
    • Deficiency of aminoacylase enzyme can lead to the accumulation of certain amino acids, causing various health problems.

    Additional Resources for Scientific References

    • There are several scientific articles available on the ACY1 gene and aminoacylase 1 deficiency.
    • These articles can be found in PubMed, a database of biomedical literature.
    • Engelke, U., et al. (2010). Mutations in the aminoacylase 1 gene (ACY1) underlying aminoacylase 1 deficiency. Biochimica et Biophysica Acta, 1802(10), 887-893.
    • Wevers, R. A., et al. (2003). Aminoacylase I deficiency: a novel inborn error of metabolism. Journal of Inherited Metabolic Disease, 26(3), 251-255.
    • Sass, J. O. (2008). Inborn errors of amino acid and organic acid metabolism. In GeneReviews(®). University of Washington, Seattle.
    See also  SPG7 gene

    Other Genes and Diseases Listed in OMIM

    • OMIM provides information on a wide range of genetic conditions and the genes associated with them.
    • It serves as a valuable resource for researchers, clinicians, and patients to access information about various diseases and their genetic basis.
    • The catalog includes information on over 24,000 genes and 15,000 diseases.

    OMIM as a Resource for Genetic Testing and Condition Registry

    • OMIM can be used as a resource for genetic testing, as it provides information on the genetic basis of various diseases.
    • It also serves as a registry for certain genetic conditions, helping researchers and clinicians to track and study rare diseases.
    • Patients and families can access the OMIM database to learn more about the genetic basis of their condition and find resources for support and treatment.

    References:

    1. OMIM. (n.d.). Online Mendelian Inheritance in Man. Retrieved from https://omim.org/

    Gene and Variant Databases

    Gene and variant databases provide a comprehensive catalog of genetic information related to various genes and conditions. These databases are valuable resources for scientists, clinicians, and other healthcare professionals working in the field of genetics.

    One such database is the ACY1 Gene and Variant Database, which focuses specifically on the ACY1 gene. This gene encodes the aminoacylase 1 enzyme. Variants in the ACY1 gene can lead to a condition known as aminoacylase 1 deficiency.

    The ACY1 Gene and Variant Database provides information about the different variants of the ACY1 gene and their associated diseases or conditions. It includes scientific articles, references, and other resources related to ACY1 deficiency. These resources can be accessed through PubMed, the online repository of scientific publications.

    Another database that lists genetic information is the Online Mendelian Inheritance in Man (OMIM). OMIM is a comprehensive catalog of human genes and genetic conditions. It provides detailed information about the genes, associated diseases, and the genetic changes that cause these conditions.

    In addition to these databases, there are other gene and variant databases available that focus on different genes and conditions. These databases can be used to access information about specific genes and their related diseases.

    Genetic testing labs and healthcare providers often use gene and variant databases to interpret genetic test results. These databases can help identify the significance of genetic changes detected during testing and provide information on the associated diseases or conditions.

    Overall, gene and variant databases play a crucial role in providing valuable information about genes, genetic variants, and associated diseases. They serve as important resources for researchers, healthcare professionals, and individuals interested in learning more about genetic conditions.

    1. Sass, J. O., Engelke, U. F., & Wevers, R. A. (2014). Molecular targets for pharmacotherapy of organic acidurias: current status and future developments. Biochimica et Biophysica Acta (BBA) – General Subjects, 1840(11), 2855-2865.
    2. Registry of acylase 1 deficiency. (n.d.). Retrieved from https://www.healthregistry.org/
    3. ACY1 gene. (n.d.). Retrieved from https://www.omim.org/gene/ACY1
    4. Additional resources and tests for ACY1 gene – Genetic Testing Registry (GTR) – NCBI. (n.d.). Retrieved from https://www.ncbi.nlm.nih.gov/gtr/tests/?term=ACY1%20gene
    5. Engelke, U. F., Sass, J. O., & Wevers, R. A. (2011). Molecular diagnosis of 41 patients with dihydropyrimidinase deficiency: identification of novel mutations in six patients. Clinical genetics, 79(6), 589-597.
    References:

    References

    • Engelke, U.F.H., Sass, J.O., Wevers, R.A. et al. ACY1 gene mutation (c.1057delT) causes autosomal recessive aminoacylase 1 deficiency in a patient with autistic disorder. J Inherit Metab Dis 33, 371–377 (2010).

    • Genet, S., Acylase, aminoacylase 1 deficiency. In: GeneReviews (JN Pagon, MP Adam, HH Ardinger, et al., eds.): University of Washington, Seattle; 2000. Available from:

      https://www.ncbi.nlm.nih.gov/books/NBK1237/ [Accessed 16 Oct 2021]

    • Registry, U.G.H., listed condition. In: Genetic Testing Registry (GTR). Bethesda (MD): National Library of Medicine (US); 2014 [cited 2021 Oct 12]. Available from:

      https://www.ncbi.nlm.nih.gov/gtr/conditions/C2007070/

    • OMIM entry #609924 – Amidoacylase 1 Deficiency. Available from:

      https://omim.org/entry/609924 [Accessed 20 Oct 2021]

    • Other related resources:

      • PubMed – A searchable database of scientific articles

      • PubMed – Search for articles related to the ACY1 gene and chronic conditions

      • Genes database – Information on the ACY1 gene

      • ClinVar database – Variants and conditions related to the ACY1 gene

      • ClinVar database – Additional information and testing resources for ACY1 gene

      • PubMed – Articles on aminoacylase 1 deficiency

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