Monoamine oxidase A deficiency
Alternate names[edit | edit source]
Brunner syndrome
Definition[edit | edit source]
Monoamine oxidase A deficiency is a rare condition that is characterized by mild intellectual disability and behavioral difficulties (including aggressive and sometimes violent behaviors and autistic features).
Epidemiology[edit | edit source]
Monoamine oxidase A deficiency is very rare condition. Its prevalence is unknown.
Cause[edit | edit source]
- Monoamine oxidase A deficiency is caused by changes (mutations) in the MAOA gene.
- This gene provides instructions for making an enzyme called monoamine oxidase A.
Gene mutations[edit | edit source]
Mutations in the MAOA gene reduce monoamine oxidase A activity, which causes serotonin and other neurotransmitters to build up in the brain.
Inheritance[edit | edit source]
This condition is inherited in an X-linked recessive manner.
Onset[edit | edit source]
Signs and symptoms generally develop in childhood and the condition is seen almost exclusively in males.
Signs and symptoms[edit | edit source]
- Affected people may also experience night terrors, tremor, stereotypical hand movements, and/or occasional body twitches.
- Most boys with monoamine oxidase A deficiency are less able to control their impulses than their peers, causing aggressive or violent outbursts.
- In addition, affected individuals may have features of other behavioral disorders, including autism spectrum disorder and attention-deficit/hyperactivity disorder (ADHD).
- These features can include obsessive behaviors, difficulty forming friendships, and problems focusing attention.
- Sleep problems, such as trouble falling asleep or night terrors, can also occur in monoamine oxidase A deficiency.
- Some people with monoamine oxidase A deficiency have episodes of skin flushing, sweating, headaches, or diarrhea.
- Similar episodes can occur in female family members of males with monoamine oxidase A deficiency, although females do not experience other signs or symptoms of the condition.
Clinical presentation[edit | edit source]
For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed.
80%-99% of people have these symptoms
- Behavioral abnormality(Behavioral changes)
- Cognitive impairment(Abnormality of cognition)
5%-29% of people have these symptoms
- Motor delay
1%-4% of people have these symptoms
- Diarrhea(Watery stool)
- Flushing
Diagnosis[edit | edit source]
- Brunner syndrome is diagnosed by genetic testing for specific mutations of the MAOA gene.
- Since the syndrome is so rare, it's usually only suspected and tested for if there are other diagnosed instances of the syndrome in one's direct family.
Treatment[edit | edit source]
- Treatment is based on the signs and symptoms present in each person.
- Some recent studies suggest that cautious treatment with certain medications (called selective serotonin reuptake inhibitors) and dietary modifications can improve symptoms.
NIH genetic and rare disease info[edit source]
Monoamine oxidase A deficiency is a rare disease.
Monoamine oxidase A deficiency Resources | ||
---|---|---|
|
|
Translate to: East Asian
中文,
日本,
한국어,
South Asian
हिन्दी,
Urdu,
বাংলা,
తెలుగు,
தமிழ்,
ಕನ್ನಡ,
Southeast Asian
Indonesian,
Vietnamese,
Thai,
မြန်မာဘာသာ,
European
español,
Deutsch,
français,
русский,
português do Brasil,
Italian,
polski
Navigation: Wellness - Encyclopedia - Health topics - Disease Index - Drugs - World Directory - Gray's Anatomy - Keto diet - Recipes
Search WikiMD
Ad.Tired of being Overweight? Try W8MD's physician weight loss program.
Semaglutide (Ozempic / Wegovy and Tirzepatide (Mounjaro / Zepbound) available.
Advertise on WikiMD
WikiMD is not a substitute for professional medical advice. See full disclaimer.
Credits:Most images are courtesy of Wikimedia commons, and templates Wikipedia, licensed under CC BY SA or similar.Contributors: Deepika vegiraju