Below is a summary for the ADSL gene observed in research publications. This is not meant to take the place of medical advice.

What is adenylosuccinate lyase deficiency?

Adenylosuccinate lyase deficiency happens when there are changes in both copies of the ADSL gene. These changes can keep the gene from working as it should, and they can lead to brain defects.

Key Role

The ADSL protein plays an important role in cell metabolism, the process by which cells make energy.


Because the ADSL gene is important for cells in the brain, many people may have:

  • Decreased muscle mass
  • Intellectual disability
  • Difficulty walking
  • Seizures
  • Autistic features
  • Behavior and temper issues
  • Brain changes seen on magnetic resonance imaging (MRI)

Do people who have adenylosuccinate lyase deficiency look different?

People who have adenylosuccinate lyase deficiency may look different. Appearance can vary and can include some but not all of these features:

  • Growth problems
  • Low-set ears
  • Small nose
  • Eyes that are not aligned and that have spontaneous left and right movement
  • Thin upper lip

How many people have adenylosuccinate lyase deficiency?

Adenylosuccinate lyase deficiency is very rare. As of 2021, about 90 people in the world with this condition have been described in medical research.


Support Resources

  • Simons Searchlight Community – ADSL Facebook group
  • Geisinger Developmental Brain Disorder Gene Database – ADSL


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.

There is currently no GeneReviews for ADSL.


Research Article Summaries

We currently do not have any article summaries for ADSL, but we add resources to our website as they become available.

The information available about ADSL 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 ADSL articles can be found here.

You can also visit the Simons Foundation’s SFARI Gene website to see information for researchers about this gene.


Research Opportunities

Simons Searchlight

Help the Simons Searchlight  team learn more about ADSL genetic changes by taking part in our research. You can learn more about the project and sign up here.


Family Stories

We do not currently have any stories from ADSL families.

Click here to share your family’s story!