Gene: DDC

Enzyme: Aromatic amino acid decarboxylase (EC 4.1.1.28)

Reaction: L-Dopa > (B6) > Dopamine; 5-OH-Trp > (B6) > Serotonin

DD:

Diagnosis: CSF; Urine, Blood; DNA
CSF: 5HIAA (low); HVA (low), MHPG (low), 3OMD (high), L-Dopa (high), 5HTPH (high)
Urine: Vanillactic acid (high)
Plasma: Prolactin (high), AADC activity (low)
DNA: see PNDDB

Clinical signs & symptoms:
Oculogyric crises
Truncal hypotonia
Limb hypertonia
Chorea/athetosis
Ptosis
Sweeating
Temperature instability
Hypersalivation

Treatment:
Bromocriptine 0.25-0.5 mg/kg/d - 1-2 doses/day
Pergolide 4 mg/d - 2 doses/day
Trihexyphenidyl <10 mg/kg/d - 3 doses/day
Tranylcypromine 8 mg/d - 2 doses/day

Alternative treatment:
L-Dopa <60 mg/kg/d - 3 doses/day
Pyridoxine <200 mg/kg/d - 3 doses/day

Literature:
Diagnosis
Treatment