Brunner syndrome

Brunner syndrome
Brunner syndrome
Classification and external resources
OMIM 300615
DiseasesDB 32391

Brunner syndrome is a rare genetic disorder caused by a mutation in the MAOA gene. It is characterized by mild mental retardation and problematic impulsive behavior (such as arson, hypersexuality, and aggressive posturing).[1] 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.

It was characterized in 1993.[2]

References

  1. ^ Online 'Mendelian Inheritance in Man' (OMIM) 300615
  2. ^ Brunner HG, Nelen M, Breakefield XO, Ropers HH, van Oost BA (October 1993). "Abnormal behavior associated with a point mutation in the structural gene for monoamine oxidase A". Science 262 (5133): 578–80. doi:10.1126/science.8211186. PMID 8211186. http://www.sciencemag.org/cgi/pmidlookup?view=long&pmid=8211186. 
v · d · eSex linkage: X-linked disorders
X-linked recessive
Immune
Chronic granulomatous disease (CYBB) · Wiskott–Aldrich syndrome · X-linked severe combined immunodeficiency · X-linked agammaglobulinemia · Hyper-IgM syndrome type 1 · IPEX · X-linked lymphoproliferative disease · Properdin deficiency
Hematologic
Endocrine
Metabolic
Nervous system

X-Linked mental retardation: Coffin–Lowry syndrome · MASA syndrome · X-linked alpha thalassemia mental retardation syndrome · Siderius X-linked mental retardation syndrome

eye disorders: Color blindness (red and green, but not blue) · Ocular albinism (1) · Norrie disease · Choroideremia

other: Charcot–Marie–Tooth disease (CMTX2-3) · Pelizaeus–Merzbacher disease · SMAX2
Skin and related tissue

Dyskeratosis congenita · Hypohidrotic ectodermal dysplasia (EDA) ·

X-linked ichthyosis · X-linked endothelial corneal dystrophy
Neuromuscular
Urologic
Bone/tooth
No primary system
X-linked dominant
v · d · eInborn error of amino acid metabolism (E70–E72, 270)
K→acetyl-CoA
Lysine/straight chain
Hypertryptophanemia
G
G→pyruvate→citrate
G→glutamate→
α-ketoglutarate
Glutamate/glutamine
General BC/OA
G→fumarate
Dopamine beta hydroxylase deficiency · reverse: Brunner syndrome
Transport/
IE of RTT
Other

M: MET

mt, k, c/g/r/p/y/i, f/h/s/l/o/e, a/u, n, m

k, cgrp/y/i, f/h/s/l/o/e, au, n, m, epon

m(A16/C10),i(k, c/g/r/p/y/i, f/h/s/o/e, a/u, n, m)



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