Overview of neurochemical changes in Neurotransmitter Biosynthesis Disorders



CSF





HVA 5-HIAA MHPG 3-Me-Tyrosine 5-HTP L-dopa

Tyrosine Hydroxylase Deficiency very low normal very low normal normal normal

Aromatic Amino Acid Decarboxylase Deficiency

very low very low very low increased increased increased

Dopamine β Hydroxylase Deficiency
increased normal very low normal normal normal



Urine






HVA 5-HIAA VMA Dopamine Noradrenaline Adrenaline VLA

Tyrosine Hydroxylase Deficiency

inconclusive normal inconclusive inconclusive inconclusive inconclusive normal
Aromatic Amino Acid Decarboxylase Deficiency

very low very low very low inconclusive decreased decreased increased
Dopamine β Hydroxylase increased normal very low increased decreased decreased normal


In
Aromatic Amino Acid Decarboxylase (AADC)  Deficiency, AADC enzyme activity is very low (<5% residual activity)

In
Dopamine β Hydroxylase (DBH) Deficiency, DBH enzyme activity is very low (<5% residual activity)

Tyrosine Hydroxylase Deficiency cannot be confirmed at the enzyme level.

For all these Neurotransmitter Biosynthesis Disorders our lab offers mutation analysis of the respective genes.
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