KEGG   DISEASE: Brunner syndrome
Entry
H00548                      Disease                                

Name
Brunner syndrome;
MAOA deficiency
Description
Brunner syndrome is a form of X-linked non-dysmorphic mild mental retardation. It is caused by a monoamine oxidase A (MAOA) deficiency, which leads to an excess of monoamines in the brain, such as serotonin, dopamine, and epinephrine.
Category
Inherited metabolic disease; Mental retardation
Brite
Human diseases [BR:br08402]
 Congenital disorders of metabolism
  Congenital disorders of amino acid metabolism
   H00548  Brunner syndrome
Human diseases in ICD-11 classification [BR:br08403]
 05 Endocrine, nutritional or metabolic diseases
  Metabolic disorders
   Inborn errors of metabolism
    5C59  Inborn errors of neurotransmitter metabolism
     H00548  Brunner syndrome
Pathway
hsa00340  Histidine metabolism
hsa00350  Tyrosine metabolism
hsa00380  Tryptophan metabolism
hsa04728  Dopaminergic synapse
Gene
MAOA [HSA:4128] [KO:K00274]
Other DBs
ICD-11: 5C59.0Y
ICD-10: F54 E70.8
MeSH: C563156
OMIM: 300615
Reference
PMID:8211186
  Authors
Brunner HG, Nelen M, Breakefield XO, Ropers HH, van Oost BA
  Title
Abnormal behavior associated with a point mutation in the structural gene for monoamine oxidase A.
  Journal
Science 262:578-80 (1993)
DOI:10.1126/science.8211186
Reference
  Authors
Craig IW
  Title
The importance of stress and genetic variation in human aggression.
  Journal
Bioessays 29:227-36 (2007)
DOI:10.1002/bies.20538
Reference
  Authors
Ropers HH, Hamel BC
  Title
X-linked mental retardation.
  Journal
Nat Rev Genet 6:46-57 (2005)
DOI:10.1038/nrg1501
Reference
PMID:8862875
  Authors
Brunner HG
  Title
MAOA deficiency and abnormal behaviour: perspectives on an association.
  Journal
Ciba Found Symp 194:155-64; discussion 164-7 (1996)
DOI:10.1002/9780470514825.ch9
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