Brunner Syndrome
Sign in to saveAlso known as 单胺氧化酶A缺乏症, Brunner综合征, monoamine oxidase A deficiency
amino acid metabolic disorder characterized by recessive X-linked inhetiance, impaired monoamine metabolism, impulsive aggressiveness and mild mental retardation that has material basis in mutation in the MAOA gene on chromosome location Xp11
Research
16 papers- Brunner syndrome associated MAOA mutations result in NMDAR hyperfunction and increased network activity in human dopaminergic neurons.Neurobiology of disease · 2022
- REM sleep behavior disorder in Brunner syndrome.Journal of clinical sleep medicine : JCSM : official publication of the American Academy of Sleep Medicine · 2024
- Brunner syndrome caused by point mutation explained by multiscale simulation of enzyme reaction.Scientific reports · 2022
- Expanding the phenotype of Brunner syndrome from childhood to adulthood: Description of the second pediatric patient and his mother.American journal of medical genetics. Part A · 2024
- A novel MAOA gene variant: Brunner syndrome, a rare syndrome, is associated with a wide range of psychiatric symptoms.International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience · 2024
via PubMed
Wikidata facts
Show 3 more facts
- on focus list of Wikimedia project
- WikiProject Medicine
- exact match
- www.orpha.net/ORDO/Orphanet_3057
- genetic association
- MAOA
Sources (7)
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