ALDH4A1 gene – Austra Health

The ALDH4A1 gene, also known as the pyrroline-5-carboxylate synthetase (P5CS) gene, is a scientific term for the ALDH4A1 gene. This gene encodes the enzyme responsible for the conversion of pyrroline-5-carboxylate (P5C) to L-proline, an essential amino acid. Mutations in this gene can lead to various diseases and conditions, including hyperprolinemia.

Testing for mutations in the ALDH4A1 gene can be done through genetic testing. This can provide additional information on the variant enzyme and help diagnose related diseases and conditions. Resources such as the Online Mendelian Inheritance in Man (OMIM) and PubMed databases list articles, references, and related genetic information.

The ALDH4A1 gene is one of many genes involved in the conversion of P5C to L-proline. Understanding the function and mutations in these genes can provide valuable insights into various diseases and conditions. The ALDH4A1 gene is part of a larger network of genes and proteins that regulate this important step in amino acid metabolism.

In conclusion, the ALDH4A1 gene plays a critical role in the conversion of pyrroline-5-carboxylate to L-proline. Mutations in this gene can lead to diseases and conditions such as hyperprolinemia. Scientific resources such as genetic databases and research articles provide valuable information on the ALDH4A1 gene and related genes. Genetic testing can help identify mutations in this gene and provide additional information for diagnosis and treatment.

Health Conditions Related to Genetic Changes

Genetic changes in the ALDH4A1 gene are related to several health conditions. Here is some information about these conditions:

Hyperprolinemia: This condition is caused by mutations in the ALDH4A1 gene, which result in a deficiency of the enzyme pyrroline-5-carboxylate. Hyperprolinemia can lead to elevated levels of proline, an amino acid, in the blood and urine. Individuals with hyperprolinemia may experience developmental delays, intellectual disabilities, seizures, and other neurological symptoms.
Other Diseases: Genetic changes in the ALDH4A1 gene may also be associated with other diseases or conditions. Additional scientific names for these conditions, as listed in the OMIM (Online Mendelian Inheritance in Man) database, include pyrroline-5-carboxylate reductase deficiency and delta-1-pyrroline-5-carboxylate dehydrogenase deficiency. More information about these conditions can be found in scientific articles and references from PubMed.
Genetic Testing: Genetic testing can be done to identify changes or mutations in the ALDH4A1 gene. These tests may include sequencing the gene and analyzing the protein produced by the gene. Genetic testing can help diagnose hyperprolinemia and other related conditions.
Resources and Databases: For additional information on health conditions related to genetic changes in the ALDH4A1 gene, resources such as the OMIM database and PubMed can be consulted. These databases provide information on genes, genetic variants, and diseases. They also catalog scientific articles and references for further study.

Hyperprolinemia

Hyperprolinemia is a genetic disorder caused by mutations in the ALDH4A1 gene. This gene encodes the protein ALDH4A1, which is involved in the conversion of a molecule called pyrroline-5-carboxylate into another molecule called proline. Hyperprolinemia is characterized by elevated levels of proline in the blood and urine.

Hyperprolinemia can be inherited in an autosomal recessive manner, meaning that an individual must inherit mutations in both copies of the ALDH4A1 gene to develop the condition. There are different types of mutations that can occur in the ALDH4A1 gene, leading to various forms of hyperprolinemia.

Hyperprolinemia is a rare disorder, and its prevalence is not well-established. However, it has been described in various populations around the world. The symptoms of hyperprolinemia can vary widely, ranging from mild to severe. Some individuals with hyperprolinemia may be asymptomatic and only discovered to have elevated proline levels through routine testing.

Diagnosis of hyperprolinemia involves genetic testing to identify mutations in the ALDH4A1 gene. This testing can be done using a variety of methods, including sequencing the coding regions of the gene or using targeted mutation analysis. Additionally, biochemical tests can be performed to measure proline levels in the blood and urine.

There is currently no cure for hyperprolinemia. Treatment focuses on managing symptoms and preventing complications. This may involve dietary restrictions, such as avoiding foods that are rich in proline. Regular monitoring of proline levels and overall health is recommended for individuals with hyperprolinemia.

Resources

For more information about hyperprolinemia and related conditions, you may find the following resources helpful:

The ALDH4A1 gene entry on the OMIM database: provides detailed information about the gene, protein, and associated mutations
The Genetics Home Reference website: offers consumer-friendly information about genetic conditions, including hyperprolinemia
The PubMed database: a valuable resource for finding scientific articles related to hyperprolinemia and the ALDH4A1 gene
The Genetic Testing Registry: a database that provides information about genetic tests for hyperprolinemia and other genetic conditions

It is important to consult with a healthcare professional or a genetic counselor to obtain accurate and up-to-date information about hyperprolinemia and its implications for your health.

Other Names for This Gene

The ALDH4A1 gene is also known by several other names:

ALDH4A1, aldehyde dehydrogenase 4 family member A1
DPGDH, dihydropyrimidine dehydrogenase (NADP+)
ALD, aldehyde dehydrogenase

These names are used to refer to the same gene in different contexts, such as diseases, protein changes, and genetic variants.

Information on this gene can be found in various databases, including OMIM (Online Mendelian Inheritance in Man), which provides detailed information on genetic conditions and related genes.

Scientific articles and references for research on this gene can be found in PubMed, a database of biomedical literature.

Testing for mutations in the ALDH4A1 gene can be done through genetic testing laboratories or research facilities that specialize in genetic analysis. The GeneTests Laboratory Directory is a useful resource to find these testing facilities.

Additional information on diseases related to ALDH4A1 gene mutations is available from various health resources and genetic registries.

References:

OMIM: https://omim.org/
PubMed: https://pubmed.ncbi.nlm.nih.gov/
GeneTests Laboratory Directory: https://www.genetests.org/

Additional Information Resources

For additional information on the ALDH4A1 gene, genetic testing, and related conditions, the following resources may be helpful:

OMIM (Online Mendelian Inheritance in Man) – OMIM provides a comprehensive catalog of human genes and genetic disorders. The ALDH4A1 gene and related conditions can be found in this database. More information can be found at https://omim.org.
PubMed – PubMed is a scientific resource that provides access to biomedical literature. Searching for “ALDH4A1 gene” or related keywords can provide additional research articles and information. Visit https://pubmed.ncbi.nlm.nih.gov for more information.
Genetic Testing Registry – This registry provides information about genetic tests, including those for the ALDH4A1 gene. Details about available tests, laboratories, and their contact information can be found at https://www.ncbi.nlm.nih.gov/gtr.
Other Databases – There are other databases and resources that contain information on the ALDH4A1 gene and related conditions. Some additional databases include GeneCards (https://www.genecards.org) and UniProtKB (https://www.uniprot.org).

These resources can provide more in-depth information about the ALDH4A1 gene, its protein product (pyrroline-5-carboxylate), mutations and variant alleles, and diseases or conditions associated with changes in this gene.

Tests Listed in the Genetic Testing Registry

The ALDH4A1 gene, also known as pyrroline-5-carboxylate reductase 1 (PYCR1) gene, is responsible for encoding the enzyme that catalyzes the conversion of pyrroline-5-carboxylate to proline. This gene has been linked to various health conditions and diseases.

In the Genetic Testing Registry (GTR), several tests are listed for the ALDH4A1 gene. These tests are designed to identify specific changes or variants in the gene, which can help diagnose and assess the risk of certain genetic conditions.

The information on the tests listed in the GTR is derived from various scientific resources, including databases, articles, and other genetic testing catalogues. The references provided for each test offer additional information on the specific mutations, genes, and conditions associated with ALDH4A1.

Some of the tests listed in the GTR are focused on hyperprolinemia, a condition characterized by elevated levels of proline in the blood. Others are related to other diseases and conditions, such as developmental delays, intellectual disability, and metabolic disorders.

The GTR provides access to detailed information on these tests, including the names of the tests, the genes being analyzed, and the associated diseases or conditions. It also offers links to additional resources, such as PubMed and OMIM, for further scientific articles and information.

Examples of Tests Listed in the Genetic Testing Registry
Test Name	Associated Gene	Associated Condition
ALDH4A1 Gene Sequencing	ALDH4A1	Hyperprolinemia
PYCR1 Variant Analysis	PYCR1	Developmental delays, intellectual disability
ALDH4A1 Enzyme Activity Assay	ALDH4A1	Metabolic disorders

These are just a few examples of the tests available in the Genetic Testing Registry for the ALDH4A1 gene. Each test provides valuable information for healthcare professionals and researchers to better understand and diagnose related conditions.

Scientific Articles on PubMed

ALDH4A1 gene is responsible for producing an enzyme called pyrroline-5-carboxylate dehydrogenase. This enzyme is involved in a crucial step in the conversion of proline, an amino acid, to another amino acid called glutamate. Variants in the ALDH4A1 gene can lead to changes in the function of this enzyme, resulting in health conditions related to proline metabolism.

PubMed is a scientific database that catalogs articles from various scientific journals. It provides a wealth of information on genetic testing, diseases, and genes, including ALDH4A1. Numerous scientific articles on PubMed discuss the mutations and variants in the ALDH4A1 gene and their implications in different health conditions. These articles provide valuable insights into the genetic basis of diseases related to hyperprolinemia, a condition characterized by high levels of proline in the blood.

Some of the articles listed on PubMed explore the functional changes in the ALDH4A1 enzyme caused by genetic variants. These studies aim to understand the underlying mechanisms of how these variants affect enzyme activity and proline metabolism. Additionally, many articles on PubMed discuss the clinical presentation, diagnosis, and management of hyperprolinemia and other diseases related to ALDH4A1 gene variations.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM is a comprehensive database that provides genetic information on various diseases and their associated genes. It serves as a valuable resource for scientists, researchers, and healthcare professionals working in the field of genetics.

This catalog contains information on genetic mutations, protein changes, and other related information for genes and diseases. It provides a scientific overview of the genes and their functions, as well as their association with specific diseases.

In this catalog, you can find information on the ALDH4A1 gene, which is associated with the condition known as hyperprolinemia. Hyperprolinemia is caused by mutations in the ALDH4A1 gene, which leads to a deficiency in the enzyme that converts the amino acid pyrroline-5-carboxylate to proline.

The catalog provides a list of diseases associated with the ALDH4A1 gene, along with their OMIM numbers and names. It also includes references to scientific articles and publications related to the gene and its associated diseases.

In addition to the ALDH4A1 gene, the catalog includes information on other genes and conditions. It provides a comprehensive database of genetic information, making it a valuable resource for researchers and healthcare professionals.

Healthcare professionals can use this catalog to access genetic information on various diseases and genes, which can be helpful in diagnosing and managing genetic conditions. It also serves as a reference for genetic testing laboratories, providing them with information on the genes and tests available for specific diseases.

In conclusion, the Catalog of Genes and Diseases from OMIM is a valuable resource for accessing genetic information on various diseases and genes. It provides comprehensive information on the ALDH4A1 gene and its association with hyperprolinemia, along with other genes and conditions. Researchers and healthcare professionals can benefit from this catalog for their scientific and clinical work.

Gene and Variant Databases

There are several scientific databases available that provide valuable information related to the ALDH4A1 gene and its variants. These databases catalog genetic changes, variant data, and related information for further research and testing.

1. PubMed: PubMed is a widely used database that contains a vast collection of scientific articles and references. It covers a wide range of topics, including ALDH4A1 gene mutations, hyperprolinemia, and other conditions associated with the gene.

2. OMIM: OMIM (Online Mendelian Inheritance in Man) is another valuable resource that provides comprehensive information on genes, genetic variations, and associated diseases. It includes detailed information on the ALDH4A1 gene, pyrroline-5-carboxylate deficiency, and other conditions related to this gene.

3. GeneCards: GeneCards is a database that provides detailed information on different genes, including gene names, protein information, and associated diseases. It also lists the ALDH4A1 gene and its role in various conditions, making it a useful resource for researchers and clinicians.

4. Genetic Testing Registry: The Genetic Testing Registry (GTR) is a valuable resource that provides information on genetic tests for various conditions. It includes information on tests available for ALDH4A1 gene mutations and their associated health conditions.

These databases serve as valuable resources for researchers, clinicians, and individuals interested in studying or testing genes related to the ALDH4A1 gene. They provide a wealth of information from scientific articles, references, and genetic testing resources, allowing for further research, testing, and understanding of this gene and its variants.

References

ALDH4A1 gene registry
Diseases related to ALDH4A1 gene
Amino acid mutations in ALDH4A1 gene
Pyrroline-5-carboxylate and other changes in ALDH4A1 gene
Catalog of ALDH4A1 gene variants
Enzyme deficiency testing on ALDH4A1 gene
Names of ALDH4A1 gene in databases
Additional resources for ALDH4A1 gene information
Scientific articles related to ALDH4A1 gene
Steps in the conversion of pyrroline-5-carboxylate to proline by ALDH4A1 gene
ALDH4A1 gene references in PubMed
Genetic tests for ALDH4A1 gene
Protein structure of ALDH4A1 gene
OMIM entries for ALDH4A1 gene
Health conditions associated with ALDH4A1 gene mutations