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BIODEF BIOMDB BIOPKU JAKE Literature Zurich

PNDDB - MAO-A deficiency

OMIM 309850

Locus: Xp11.23-11.4

Gene: MAO-A

Enzyme: Monoamine oxidase A (EC 1.4.3.4)

Reaction: Amine > (FAD) > Aldehyde

DD:

Diagnosis: Urine, DNA
Urine: VMA (low), HVA (low), 5HIAA (low), Normetanephrine (high), 3-Methoxytyramine (high), Serotonin (high), Tyramine (high)
DNA: see PNDDB

Clinical signs & symptoms:
Aggresive behavior
Mental retardation
Limb hypertonia

Treatment:

Alternative treatment:
Cyproheptadine
Sertraline

Literature:
Diagnosis
Treatment
 

 


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