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.
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
- 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.
Research Article Summaries