BRUNNER SYNDROME (MONOAMINE OXIDASE-A DEFICIENCY (MAO-A) | |
MONOAMINE OXIDASE-A DEFICIENCY (MAO-A) | |
300615
OMIM = Online Mendelian Inheritance of Men | |
3057 | |
Amine oxidase [flavin-containing] A | |
1.4.3.4 | |
Xp11.23 |
|
E70.8 | |
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 |