BRUNNER SYNDROME (MONOAMINE OXIDASE-A DEFICIENCY (MAO-A)

Question 1

What is  BRUNNER SYNDROME (MONOAMINE OXIDASE-A DEFICIENCY (MAO-A)?

Accepted Answer

rare
X-linked recessive
Brunner syndrome should be considered as a cause of mild ID with paroxysmal behavioural symptoms [Palmer EE, 2016]

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Monoaminoxidase-A-Mangel; Brunner-Syndrom

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 300615

Question 4

Which enzymes are involved?

Accepted Answer

Amine oxidase [flavin-containing] A

Disease	BRUNNER SYNDROME (MONOAMINE OXIDASE-A DEFICIENCY (MAO-A)
Synonym	MONOAMINE OXIDASE-A DEFICIENCY (MAO-A)
OMIM	300615 OMIM = Online Mendelian Inheritance of Men
Orphanet	3057
Protein (UniProt)	Amine oxidase [flavin-containing] A
ExPASy	1.4.3.4
Gene locus	Xp11.23
ICD	E70.8
Summary	rare X-linked recessive Brunner syndrome should be considered as a cause of mild ID with paroxysmal behavioural symptoms [Palmer EE, 2016]
Laboratory findings	3-Methoxytyramine inc (urine) 3-Methoxy-4-hydroxyphenylglycol (MHPG, MOPEG) inc (urine) 5-Hydroxyindolacetic acid (5-HIAA) normal/dec (urine) Homovanillic acid (HVA) inc (urine) Serotonine inc (urine) Serotonine inc (serum) Tyramine inc (urine) Vanillylmandelic acid (VMA) normal/dec (urine)
Symptoms	behavior, autism or autistic-like behavior, self-mutilating or destructive hand movements, abnormal, stereotyped headache (severe, recurrent or occipital, migraine) mental retardation motor retardation onset, adolescent onset, childhood