Below is a summary for the ALDH5A1 gene observed in research publications. This is not meant to take the place of medical advice.
What is succinic semialdehyde dehydrogenase deficiency?
Succinic semialdehyde dehydrogenase deficiency happens when there are changes in both copies of the ALDH5A1. These changes can keep the gene from working as it should, and they can lead to brain defects.
The ALDH5A1 protein plays an important role in cell metabolism, the process by which cells make energy.
Because the ALDH5A1 gene is important for cells in the brain, many people may have:
- Developmental delay
- Intellectual disability
- Low muscle tone
- Movement disorder called ataxia
- Delayed language development
- Brain changes seen on magnetic resonance imaging (MRI)
Do people who have succinic semialdehyde dehydrogenase deficiency look different?
People who have succinic semialdehyde dehydrogenase deficiency do not look different. Some people have abnormal eye movements.
How many people have succinic semialdehyde dehydrogenase deficiency?
As of 2020, about 380 people in the world with succinic semialdehyde dehydrogenase deficiency have been described in medical research.
- Simons Searchlight Community – ALDH5A1 Facebook group
GeneReviews are a great resource to bring to your child’s clinicians. These publications provide a summary of current research on genetic conditions and information on ongoing care.
Check out the GeneReviews for ALDH5A1.
Research Article Summaries
We currently do not have any article summaries for ALDH5A1, but we add resources to our website as they become available.
The information available about ALDH5A1 is limited, and families and doctors share a critical need for more information. As we learn more from children who have this gene change, we expect our list of resources and information to grow.
Full versions of published research articles can be found on PubMed. PubMed is a National Institutes of Health (NIH) online database that is free. It has a collection of both medical and scientific research articles. A PubMed search for ALDH5A1 articles can be found here.
You can also visit the Simons Foundation’s SFARI Gene website to see information for researchers about this gene.
Help the Simons Searchlight team learn more about ALDH5A1 genetic changes by taking part in our research. You can learn more about the project and sign up here.
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