ADSL

The information for this summary of ADSL-related syndrome comes from research publications. This is not meant to take the place of medical advice.

Click here for our full ADSL Gene Guide

The online Gene Guide includes more information about ADSL such as the chance of having another child with this condition, behavior and development concerns linked to ADSL-related syndrome or specialists to consider for people with this condition. Share this resource with family members or your clinical providers.

ADSL-related syndrome is also called adenylosuccinate lyase deficiency. For this webpage, we will be using the name ADSL-related syndrome to encompass the wide range of variants observed in the people identified.

What is ADSL-related syndrome?

ADSL-related syndrome happens when there are changes in the ADSL gene. These changes can keep the gene from working as it should.

Key Role

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

Symptoms

Because the ADSL gene is important for brain activity, many people who have ADSL-related syndrome have:

  • Decreased muscle mass
  • Developmental delay
  • Intellectual disability
  • Difficulty walking
  • Seizures
  • Features of autism
  • Behavior and temper issues
  • Brain changes seen on magnetic resonance imaging (MRI)
  • Lower than average muscle tone
  • Difficulty speaking
  • Aggression
  • Hyperactivity

How many people have ADSL-related syndrome?

As of 2024, at least 90 people with ADSL-related syndrome have been described in medical research.

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Support Resources

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

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.

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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.

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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.

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Family Stories

We do not currently have any stories from ADSL families.

Click here to share your family’s story!