Search disorders‎ > ‎

Disorders of Neurotransmitter Biosynthesis

Cerebrospinal fluid (CSF) analysis for the diagnosis of Disorders of Neurotransmitter Biosynthesis requires:
- Standardized CSF sampling. Since the concentrations of HVA and 5-HIAA are depenedent on the fraction of CSF, a standardized fraction should be collected
- CSF samples contaminated by red blood cels, should be centrifuged as quick as possible after lumbar puncture
- Samples should be frozen as quick as possible after lumbar puncture
- Reference values are dependent on the age of the patient the CSF fraction. Interpretation should therefore be performed with respect to these age-dependent reference values.

Click on the links below for specific information on the following disorders:

Tyrosine Hydroxylase Deficiency (THD)

Aromatic Amino Acid Decarboxylase (AADC) Deficiency

Dopamine Beta Hydroxylase (DBH) Deficiency

Overview of neurochemical changes in Neurotransmitter Biosynthesis Disorders

Our laboratory offers fast and efficient analysis of the following compounds in CSF for the diagnosis of Neurotransmitter Biosynthesis disorders:

Neurotransmitter metabolites in CSF:
- Homovanillic acid (HVA), the main metabolite of dopamine
- 5-Hydroxy-indole-acetic acid (5-HIAA), the main metabolite of serotonin
- 3-Methoxy-4-Hydroxy-phenylglycol (MHPG), the main metabolite of (nor)epinephrine
- L-dopa
- 3-methoxy-tyrosine (3-Ortho-Methyldopa, 3-OMD)
- 5-Hydroxy-tryptophan (5-HTP)

- 5-Methyl-tetra-hydro-folate (5-MTHF)

- Biopterin
- Neopterin

Analysis of the following compounds in urine:
- Homovanillic acid (HVA)
- 5-Hydroxy-indole-acetic acid (5-HIAA)
- Vanillylmandelic acid (VMA)
- Dopamine
- Nor(epinephrine)

- Biopterin
- Neopterin

Furthermore, the following enzyme activities can be measured in serum / plasma:


Genetic analysis:

- Aromatic Amino Acid Decarboxylase (AADC)
- Tyrosine Hydroxylase (TH)
- GTP Cyclohydrolase (GCH-1)
- Sepiapterin Reductase (SR)

Click here to download analysis protocols.