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Overview of neurochemical changes in Neurotransmitter Biosynthesis Disorders




  CSF          Urine   

 HVA 5-HIAA MHPG L-dopa 5-HTP 3-OMD HVA     Dopamine    (Nor)epinephrine     VMA
Tyrosine Hydroxylase Deficiencyvery low
 normalvery low
 normal normal normaloften normal; not diagnostic!often normal; not diagnostic!    
often normal; not diagnostic!often normal; not diagnostic!
Aromatic Amino Acid Decarboxylase Deficiency *
very low
very low
very low
increased
increased
increased
often low
normal or increased
low
 low
Dopamine Beta Hydroxylase Deficiency *
increased
normal
low
normal
normal
normal
 increasedincreased
low
 low


* Very low plasma enzyme activity
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