Table 3.

Therapeutic interventions

Patient	AADC deficiency treatment	Treatment response
1	•  Bromocriptine 10 mg/day •  Vitamin B6 100 mg/day	Mild improvements in oculogyric crises
2	•  Vitamin B6 200 mg/day	Moderate improvements in diarrhea
3	•  Bromocriptine 7.5 mg/day •  Vitamin B6 100 mg/day •  Clonazepam 0.1 mg/kg/day	Mild improvements in head control and oculogyric crises
4	•  Bromocriptine 15 mg/day •  Vitamin B6 200 mg/day •  Clonazepam 0.1 mg/kg/day	Mild improvement in motor control and oculogyric crisis
5	•  Bromocriptine 5.5 mg/day •  Vitamin B6 100 mg/day •  Selegiline 4.5 mg/day •  Trihexyphenidyl 12 mg/day •  Clonidine 0.1 mg/day	Improved head control, improvement in dystonic and oculogyric crises
6	•  Vitamin B6 – dose details unavailable •  Pramipexole – dose details unavailable	NAa
7	•  Bromocriptine 20 mg/day •  Vitamin B6 200 mg/day	No symptomatic improvements following initiation of treatment. Medication stopped after 2 months
8	•  Vitamin B6 100 mg morning, 200 mg night •  Folinic acid 5 mg/day •  Levetiracetam 150 mg/day •  Carbidopa/levodopa 5 mg/day	No
9	•  Clonazepam 0.5 mg morning, 1 mg evening •  Levetiracetam 2000 mg/day	No
10	•  Pramipexole 0.375 mg/day •  Vitamin B6 100 mg/day	Improvement in seizures
11	•  Bromocriptine 12 mg/day •  Benztropine 0.1 mg/kg/day •  Folinic acid 1 mg/day •  Selegiline 1.2 mg/day	Patient is able to walk, speak, and attend school
12	•  Bromocriptine 12 mg/day •  Vitamin B6 200 mg/day •  Benztropine 0.04–0.1 mg/kg/day •  Folinic acid 1 mg/day •  Selegiline 1.25 mg/day	Better movement and tone, less drooling. Some improvement in oculogyric crises
13	•  Vitamin B6 200 mg/day •  Folinic acid 2 mg/kg/day •  Trihexyphenidyl 5 mg morning, 10 mg evening	No
14	•  Carbidopa/levodopa 7.8 mg/kg/day Vitamin B6 80 mg/day	No
15	•  Carbidopa/levodopa 12 mg/kg/day •  Vitamin B6 80 mg/day	Poor response
16	•  NAa	NAa

Medical treatments and response to treatment. Patient 9 was transferred from another center at age 15 and had previously been treated with levetiracetam, phenytoin and lacosamide; patient 10 was previously treated with carbamazepine (15 mg/kg/day) and levetiracetam (50 mg/kg/day); however, treatments were changed after a consultation in the USA, during which the patient was told to stop all anti-epileptic drugs; patient 10 required dose adjustment with pramipexole owing to experience of abnormal movement with dose increase

AADC aromatic L-amino acid decarboxylase, NA not available

^aInformation not provided by the author