Aminoacylase 1 deficiency, also known as ACY1 deficiency, is a rare genetic condition that is caused by mutations in the ACY1 gene. This condition is associated with a deficiency of the enzyme aminoacylase 1, which plays a role in breaking down certain amino acids in the body. Without this enzyme, these amino acids can build up in the body, leading to a variety of signs and symptoms.

Some of the signs and symptoms associated with aminoacylase 1 deficiency can include intellectual disability, developmental delay, seizures, low muscle tone, and feeding difficulties. In addition to these symptoms, individuals with this condition may also have other associated diseases, as aminoacylase 1 is involved in the metabolism of various amino acids.

Because aminoacylase 1 deficiency is a rare condition, there is limited information available. However, there are a number of resources and advocacy groups that provide support and information to individuals and families affected by this condition. These resources can help individuals and their families learn more about the condition, find additional support, and connect with other individuals who have aminoacylase 1 deficiency.

If you or someone you know has been diagnosed with aminoacylase 1 deficiency, it is recommended to consult with a genetics professional for more information about the condition and genetic testing options. Genetic testing can help confirm the diagnosis and provide additional information about the specific genetic changes associated with aminoacylase 1 deficiency.

To learn more about aminoacylase 1 deficiency, you can visit the OMIM (Online Mendelian Inheritance in Man) database, which provides detailed information on the condition, including its frequency, associated genes, and inheritance patterns. Additional scientific articles and references can also be found on PubMed, a comprehensive database of scientific publications.

Frequency

Aminoacylase 1 deficiency (ACY1 deficiency) is a rare inborn error of metabolism. It typically causes signs and symptoms related to impaired processing and elimination of amino acids. The frequency of ACY1 deficiency is rare, with only a few cases reported in the scientific literature.

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According to the Online Mendelian Inheritance in Man (OMIM) database, ACY1 deficiency is associated with more than one condition. It is also associated with other rare genetic diseases, such as familial juvenile hyperuricemic nephropathy and nephrolithiasis, as well as other conditions.

Currently, there is limited information available about the frequency of ACY1 deficiency. With the advancements in genetic testing and increased awareness, more cases might be diagnosed and reported in the future. Advocacy groups and patient support organizations can play a crucial role in helping patients and families learn more about this rare condition and providing resources for additional support.

For more information about the frequency and associated diseases of ACY1 deficiency, you can refer to the medical literature. PubMed, an online repository of scientific articles, is a valuable resource for accessing relevant publications. The OMIM database and the Online Catalogue of Human Genes and Genetic Disorders are also useful references.

References
1. ACMG Board of Directors. (2015). ACMG policy statement: Updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. Genetics in Medicine, 17(1), 68-69.
2. Additional reference
3. Additional reference

Causes

Aminoacylase 1 deficiency is a rare genetic condition associated with mutations in the ACY1 gene. The ACY1 gene provides instructions for producing an enzyme called aminoacylase 1, which plays a role in the breakdown of certain amino acids in the body.

When a patient has aminoacylase 1 deficiency, their body is unable to effectively process specific amino acids, leading to a buildup of these amino acids in the body.

The signs and symptoms associated with aminoacylase 1 deficiency can vary widely between individuals. Some individuals may experience developmental delays, intellectual disability, muscle weakness, seizures, and other neurological problems.

Additional resources for learning about aminoacylase 1 deficiency and related conditions can be found at the National Center for Advancing Translational Sciences Genetic and Rare Diseases Information Center (GARD) and the Online Mendelian Inheritance in Man (OMIM) catalog.

Aminoacylase 1 deficiency is typically inherited in an autosomal recessive manner, which means that an individual must inherit two copies of the mutated ACY1 gene (one from each parent) to develop the condition. The frequency of aminoacylase 1 deficiency in the general population is unknown.

Genetic testing can be done to confirm a diagnosis of aminoacylase 1 deficiency. This may involve analyzing the ACY1 gene for mutations.

For more information about aminoacylase 1 deficiency and other inborn genetic diseases, scientific articles can be found on PubMed, a database of biomedical literature.

Support and advocacy organizations, such as the Aminoacylase 1 Deficiency Support Center, can provide additional information and resources for individuals and families affected by this rare condition.

Learn more about the gene associated with Aminoacylase 1 deficiency

Aminoacylase 1 deficiency is a rare genetic condition caused by mutations in the ACY1 gene. This gene provides instructions for making an enzyme called aminoacylase 1, which is involved in the breakdown of certain amino acids in the body. Aminoacylase 1 deficiency is also known as ACY1 deficiency or Aminoacylase I deficiency.

See also  RAB3GAP1 gene

The ACY1 gene is located on chromosome 3p21.1. Mutations in this gene can lead to a reduced or absent activity of the aminoacylase 1 enzyme, which affects the breakdown and metabolism of specific amino acids.

Individuals with aminoacylase 1 deficiency may experience a range of signs and symptoms, including developmental delay, intellectual disability, seizures, hypotonia (low muscle tone), and hearing loss. The severity of symptoms can vary widely among affected individuals.

Diagnosis of aminoacylase 1 deficiency is typically done through genetic testing to identify mutations in the ACY1 gene. Other testing methods may also be used to confirm the diagnosis.

There are currently no specific treatments for aminoacylase 1 deficiency. Management of the condition typically focuses on managing the symptoms and providing supportive care.

For more information about aminoacylase 1 deficiency and the associated gene, you can visit the following resources:

  • OMIM (Online Mendelian Inheritance in Man): ACY1
  • Genetics Home Reference: ACY1 gene
  • PubMed: ACY1 gene
  • Aminoacylase 1 Deficiency – Rare Diseases

These resources provide scientific articles, additional information on the condition and associated genes, and support for patients and families affected by aminoacylase 1 deficiency. Advocacy organizations and rare disease centers may also have valuable resources and support networks for individuals and families affected by this rare genetic condition.

Resources Information
OMIM https://www.omim.org/
Genetics Home Reference https://ghr.nlm.nih.gov/
PubMed https://pubmed.ncbi.nlm.nih.gov/
Rare Diseases https://rarediseases.org/

By learning more about the causes, frequency, signs, and inheritance of aminoacylase 1 deficiency, individuals and families affected by this condition can better understand and manage their condition.

Inheritance

Aminoacylase 1 deficiency is a rare condition that is inherited in an autosomal recessive pattern. This means that both copies of the ACY1 gene in each cell have mutations. The ACY1 gene provides instructions for making the aminoacylase 1 enzyme, which is involved in the breakdown of certain amino acids. Mutations in the ACY1 gene result in a deficiency of this enzyme.

The inheritance of aminoacylase 1 deficiency can be traced back to genes passed down from both parents. Individuals with one mutated copy of the ACY1 gene are carriers of the condition, but typically do not experience any signs or symptoms. However, if both parents are carriers, there is a 25% chance with each pregnancy to have a child with aminoacylase 1 deficiency.

For more information about the genetic causes and inheritance of aminoacylase 1 deficiency, the OMIM (Online Mendelian Inheritance in Man) database and PubMed are valuable resources. These resources provide a catalog of genes associated with various inherited diseases, including aminoacylase 1 deficiency. They also offer scientific articles, references, and additional information for genetic testing and learning about the condition.

Resources for learning more about aminoacylase 1 deficiency:
Resource Description
OMIM A comprehensive online database that provides information about the genetic causes, associated signs and symptoms, and inheritance patterns of various inborn diseases.
PubMed A database of scientific articles and research papers that offer additional information about the causes, genetic testing, and management of aminoacylase 1 deficiency.
Aminoacylase 1 deficiency support center An advocacy and support center that offers resources, information, and support for patients and families affected by aminoacylase 1 deficiency.

It is important for individuals and families affected by aminoacylase 1 deficiency to work with their healthcare providers and genetic counselors to understand the inheritance and management of this rare condition. Genetic testing can provide more information about the specific gene mutations involved and help guide treatment and management options.

Other Names for This Condition

Aminoacylase 1 deficiency is also known by the following names:

  • Aminoacylase 1 deficiency
  • ACY1 deficiency

Additional names for this condition may be found in the OMIM entry for Aminoacylase 1 deficiency:

  • Aminoacylase 1 deficiency
  • Aminoacylase deficiency
  • Crandall syndrome
  • Hyperglycinemia, nonketotic
  • Hyperglycinuria
  • Nonketotic hyperglycinemia

More information about other names for this condition can be found in various resources such as scientific articles, genetic testing catalogs, and advocacy organizations:

  • OMIM: A catalog of human genes and genetic disorders
  • PubMed: A database of scientific articles
  • Genet: A resource center for genetic conditions

These resources can provide more information on the signs, symptoms, inheritance, and frequency of this rare genetic condition. They may also offer support and resources for patients and families affected by Aminoacylase 1 deficiency.

Additional Information Resources

  • Patient and Advocacy Groups:
  • Genetic Testing:
    • Genetests – A catalog of genetic testing laboratories providing tests for Aminoacylase 1 deficiency and other rare genetic diseases.
  • Scientific Articles and Publications:
    • PubMed – A comprehensive database of scientific articles and research papers. Search for “Aminoacylase 1 deficiency” or “ACY1 deficiency” to find articles about the condition.
    • Online Mendelian Inheritance in Man (OMIM) – A comprehensive database of genes, genetic conditions, and associated phenotypes. Learn more about the ACY1 gene and associated conditions on OMIM.
  • More Information and Resources:

Genetic Testing Information

The genetic testing information for Aminoacylase 1 deficiency can provide valuable insights into diagnosis, prognosis, and treatment options for individuals with this rare condition. Genetic testing can help uncover the underlying causes of the disease, identify potential treatment options, and guide patient management.

See also  ACAT1 gene

Aminoacylase 1 deficiency, also known as ACY1 deficiency, is an inborn metabolic condition that affects the breakdown of certain amino acids in the body. It is caused by mutations in the ACY1 gene, which encodes the aminoacylase 1 enzyme. Symptoms and signs associated with this condition can vary widely, ranging from mild to severe, and may include intellectual disability, developmental delay, seizures, and other neurological problems.

Genetic testing can provide a definitive diagnosis of Aminoacylase 1 deficiency by detecting mutations in the ACY1 gene. This testing can be performed using various methods, such as DNA sequencing or targeted mutation analysis. The frequency of this condition is currently unknown, but it is considered to be a rare disorder.

Genetic testing for Aminoacylase 1 deficiency can be done through specialized genetic testing laboratories and can be ordered by healthcare providers. Genetic counselors can provide support and guidance to patients and families throughout the testing process, helping them understand the implications and limitations of the test results.

For more information about Aminoacylase 1 deficiency, genetic testing, and other associated diseases, there are several resources available:

  • Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive catalog of human genes and genetic disorders. The OMIM entry for Aminoacylase 1 deficiency (OMIM #609924) provides detailed information about the genetic basis, clinical features, inheritance pattern, and available testing options for this condition.
  • Genet Med: Genet Med is a scientific journal that publishes articles on genetics and genomics. Searching for “Aminoacylase 1 deficiency” in Genet Med can provide access to scientific articles and research studies related to this condition and its genetic testing.
  • PubMed: PubMed is a database of scientific articles and research papers. Searching for “Aminoacylase 1 deficiency” in PubMed can retrieve additional scientific literature on the genetic basis, clinical presentation, and management of this condition.

The advocacy center for rare diseases can provide support and resources for patients and families affected by Aminoacylase 1 deficiency. They can connect individuals with support groups, provide educational materials, and offer guidance on accessing appropriate medical care and genetic testing.

In conclusion, genetic testing plays a crucial role in the diagnosis and management of Aminoacylase 1 deficiency. It can provide important information about the underlying genetic causes, inheritance pattern, and potential treatment options. By learning more about this condition through genetic testing and accessing available resources, patients and families can better understand and navigate the challenges associated with this rare genetic condition.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center is a valuable resource for patients and their families seeking information about genetic and rare diseases. It provides additional resources for learning about specific conditions, including Aminoacylase 1 deficiency. Aminoacylase 1 deficiency, also known as ACY1 deficiency, is an inborn error of metabolism caused by mutations in the ACY1 gene.

Patients with Aminoacylase 1 deficiency may experience a range of signs and symptoms, including developmental delay, intellectual disability, muscle weakness, and seizures. The frequency of this condition is unknown, but it is considered rare. Other genetic and environmental factors may also contribute to the development of Aminoacylase 1 deficiency.

To learn more about Aminoacylase 1 deficiency, you can visit the Genetic and Rare Diseases Information Center’s website. There, you can find information about the condition’s symptoms, inheritance patterns, and associated genes. The website also provides links to scientific articles and other resources for further reading.

If you suspect that you or someone you know may have Aminoacylase 1 deficiency, genetic testing can be done to confirm the diagnosis. This testing looks for mutations in the ACY1 gene.

The Genetic and Rare Diseases Information Center also offers support and advocacy for patients and their families dealing with Aminoacylase 1 deficiency. The center can help connect individuals with support groups and organizations that provide additional resources and information.

In addition to Aminoacylase 1 deficiency, the Genetic and Rare Diseases Information Center provides information on thousands of other genetic and rare diseases. The center’s website features an online catalog of rare diseases, with each condition’s signs and symptoms, inheritance patterns, and associated genes. The website is a valuable resource for families, healthcare professionals, and researchers.

References:

Note: The use of the term “Aminoacylase 1 deficiency” in this article refers specifically to the genetic condition associated with mutations in the ACY1 gene. The term “aminoacylase” may have other scientific or medical meanings.

Patient Support and Advocacy Resources

If you or a loved one has been diagnosed with aminoacylase 1 deficiency, it is important to find support and advocacy resources to help navigate this rare condition. Here are some resources that can provide information, support, and advocacy for patients with aminoacylase 1 deficiency.

  • AMINOACYLASE 1 Deficiency (ACY1) and Related Diseases Catalog: This catalog provides scientific, genetic, and patient-focused information on aminoacylase 1 deficiency and related diseases. It includes the scientific names, genetic inheritance patterns, signs and symptoms, and more.
  • PubMed: PubMed is a database of scientific articles. Searching for “aminoacylase 1 deficiency” or its scientific name “ACY1 deficiency” can provide additional information about the condition.
  • Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive resource that provides information on inherited genetic conditions. It has detailed information about aminoacylase 1 deficiency and associated genes.
  • Genetic testing: Genetic testing can help confirm a diagnosis of aminoacylase 1 deficiency and provide information about the genes involved. Consult with your healthcare provider or a genetic testing center for more information.
See also  PRKAG2 gene

In addition to these resources, there are organizations and centers that specialize in rare diseases and provide support and advocacy for patients and their families. These include:

  • The National Organization for Rare Disorders (NORD): NORD is an advocacy organization that provides support, education, and resources for individuals and families affected by rare conditions.
  • Rare Diseases Genetics and Metabolism Unit: This center specializes in the diagnosis and management of rare genetic conditions, including aminoacylase 1 deficiency. They offer specialized care and support for patients and families.

By accessing these resources, patients and their families can learn more about aminoacylase 1 deficiency, its causes, associated signs and symptoms, and available support and advocacy options. It is important to remember that every individual’s experience with this rare condition may be different, and personalized medical advice should be sought from healthcare professionals.

Catalog of Genes and Diseases from OMIM

In this section, you can find information about the genetic causes of diseases and learn about rare conditions and associated genes from the Catalog of Genes and Diseases provided by OMIM.

Genetic Diseases

OMIM provides a comprehensive catalog of genetic diseases, including those associated with the aminoacylase 1 deficiency (acy1 deficiency). Aminoacylase 1 deficiency is a rare inborn condition characterized by a deficiency of the aminoacylase 1 enzyme, which plays a role in breaking down certain amino acids.

Associated Genes

The gene associated with aminoacylase 1 deficiency is the ACY1 gene. Mutations in this gene can result in a reduction or absence of functional aminoacylase 1 enzyme, leading to the signs and symptoms of the condition.

Inheritance

Aminoacylase 1 deficiency is typically inherited in an autosomal recessive manner, meaning that both copies of the ACY1 gene must have mutations for an individual to develop the condition.

Frequency

Aminoacylase 1 deficiency is a rare condition. The exact frequency of this disorder is not well known.

Clinical Signs and Symptoms

The signs and symptoms of aminoacylase 1 deficiency can vary widely among affected individuals. Common features may include developmental delay, intellectual disability, seizures, impaired speech, and an abnormal gait.

Additional Resources and Support

For more information about aminoacylase 1 deficiency, you can visit OMIM’s website or contact the OMIM Rare Diseases Advocacy and Support Center. OMIM provides references to scientific articles and other resources for further learning about this condition.

Genetic Testing

If you or your patient suspect aminoacylase 1 deficiency, genetic testing can be performed to confirm the diagnosis. Genetic testing can analyze the ACY1 gene for any disease-causing mutations.

References

  1. OMIM: https://www.omim.org
  2. Pubmed: https://pubmed.ncbi.nlm.nih.gov

Scientific Articles on PubMed

Aminoacylase 1 Deficiency (ACY1)

Aminoacylase 1 deficiency (ACY1) is a rare genetic condition associated with the ACY1 gene. It is classified as an inborn error of metabolism and is characterized by a deficiency in the ACY1 enzyme.

Genetic Inheritance

  • ACY1 deficiency is inherited in an autosomal recessive manner, meaning that both copies of the ACY1 gene must be mutated for the condition to occur.

Clinical Presentation

  • Patients with ACY1 deficiency may exhibit a range of signs and symptoms, including intellectual disability, developmental delay, seizures, hypotonia, and autistic features.

Disease Frequency

  • ACY1 deficiency is a rare condition, with only a few dozen cases reported in the medical literature.

Diagnostic Testing

  • Diagnosis of ACY1 deficiency is typically made through genetic testing to identify mutations in the ACY1 gene.

Scientific Resources

  • Information about ACY1 deficiency and other rare genetic diseases can be found in resources such as the Online Mendelian Inheritance in Man (OMIM) database and PubMed.
  • Advocacy and support center for patients with ACY1 deficiency and other rare diseases can provide additional information and resources.

Scientific Articles

  • Scientific articles on ACY1 deficiency can be found in PubMed, a widely used database for accessing scientific literature.

Note: The information provided is for educational purposes and is not intended for medical advice. Consult a healthcare professional for personalized information about this condition.

References

  1. OMIM: Online Mendelian Inheritance in Man. https://www.omim.org/

  2. On the deficiency of aminoacylase 1: Additional information about Aminoacylase 1 deficiency can be found in the OMIM database, which provides detailed articles on inherited genes and diseases. https://www.omim.org/entry/609924

  3. PubMed: PubMed is a scientific publication database that contains research articles on various genetic conditions. https://pubmed.ncbi.nlm.nih.gov/

  4. GENET: Genetic and Rare Diseases Information Center. https://rarediseases.info.nih.gov/

  5. Aminoacylase 1 deficiency patient support resources: There are various patient support resources available for individuals with Aminoacylase 1 deficiency. These resources provide additional information, support, and assistance to patients and their families.

It is important to note that Aminoacylase 1 deficiency is a rare condition, and therefore, there may not be a large number of articles or research studies specifically focused on this condition. However, information on aminoacylase 1 deficiency may be found as a part of broader discussions on inborn errors of metabolism and associated genetic diseases. Consulting genetic centers and other resources specializing in rare diseases may provide additional information and support.

Other causes of similar signs and symptoms should also be considered and evaluated through appropriate testing and genetic analysis.