Understanding the Frequency of MAO-A Deficiency
The true prevalence of Monoamine Oxidase A (MAO-A) deficiency remains unclear. This uncertainty arises from limited diagnosis and insufficient genetic testing among potentially affected individuals. Determining the actual prevalence is vital to advancing research, initiating clinical trials, and unlocking funding and commercial interest in developing treatments for this disorder.
By leveraging comprehensive genetic databases, we aim to identify individuals with confirmed MAO-A mutations and related conditions, shedding light on the scope of this rare disorder. Your support in this effort is invaluable, and we are eager to collaborate in the shared mission of improving the lives of those impacted by MAO-A deficiency.
Key Data We Seek
We are interested in identifying individuals with the five known genetic mutations resulting in the loss of all MAO-A activity, and those with MAO-A/B deletions. The symptoms of MAO-A and combined MAO-A/B deficiency are listed below. This list has been synthesized from case reports and scientific literature. Potential overlaps or duplications may exist.
Clinical Symptoms and Behaviors Associated with MAO-A Mutations:
- Aggressive Behavior
- Heightened anxiety or generalized anxiety disorders
- Bipolar disorder
- Obsessive-compulsive behaviors (including tendencies aligned with OCD-like features)
- Poor impulse control or impulsivity
- Autism spectrum disorder (ASD) and related autistic behaviors
- Anti-social behaviors or conduct disorders
- Post-traumatic stress disorder (PTSD)
- Attention deficit hyperactivity disorder (ADHD)
- Suicidal Tendencies
- Major depressive disorder or persistent depression
Clinical Symptoms and Behaviors Associated with MAO-A/B Deletions:
- Severe developmental delays
- Intellectual disability
- Autism spectrum disorder (ASD) and related autistic behaviors
- Anti-social behaviors
- Intermittent hypotonia
- Stereotypical hand movements
- Small head
- Short stature
If someone you know has any of these symptoms, you might suggest they consult with their physician for genetic testing.
About MAO-A Deficiency
Monoamine Oxidase A (MAO-A) is an enzyme that helps regulate levels of brain chemicals, including serotonin, dopamine, and norepinephrine. Deficiency in this enzyme can lead to an imbalance of these chemicals, causing a range of neurodevelopmental challenges.
One well-documented form, Brunner Syndrome, was first discovered in a Dutch family by Dr. Han Brunner in 1993. It is characterized by aggressive behavior, intellectual disabilities, and traits consistent with autism spectrum disorder. This syndrome results from rare genetic mutations that disrupt MAO-A activity.