Table 2.
Clinical information of AADC deficiency patients recruited in this study
| No. | Sex | Onset age | Diagnosis age | DDC variants (maternal/paternal) | Severity | Development | EEG | MRI | 3-OMD in dried blood spot (ng/ml) | Urinary VLA (VLA/Crn) | Treatment and effect |
|---|---|---|---|---|---|---|---|---|---|---|---|
| P1 | F | 3 m | 14 m | c.304G>A/c.304G>A | Moderate | Head control at 3 m; turn over at 13 m; now could sit with support and say a few simple words | Normal | Normal | NA | NA | Improved after taking pyridoxine |
| P2 | F | 3 m | 7 m | c.1021+1G>A/c.299G>C | Moderate | Head control at 15 m; turn over at 20 m; now could sit with assistance and grasp small things in a few minutes | δ slow wave | Increased extracerebral space | NA | NA | Improved in head control, hypotonia after taking pyridoxine, selegiline, bromocriptine, rotigotine, and oxymetazoline |
| P3 | F | 5 m | 12 m | c.478C>G/c.565G>T | Moderate | Head control at 10 m; turn over at 19 m; sits without support at 19 m; now could babble | Sharp slow wave | Delayed myelination | 823.017 | NA | Improved in hypotonia, oculogyric crises, and development after taking pyridoxine, selegiline, and rotigotine |
| P4 | F | 6 m | 21 m | c.2T>C/c.277A>G | Moderate | Head control at 12 m; turn over at 14 m; sit without support at 18 m; babbling begins at 8 m; walk independently at 27 m | Normal | Increased extracerebral space | 581.12 | 0.1047 | Improved in hypotonia, sleep disorder, autonomic symptoms, and motor function after taking pyridoxine, selegiline, pramipexole, and trihexyphenidyl |
| P5 | F | 3 m | 17 m | c.714+4A>T/c.714+4A>T | Severe | Bedridden | NA | NA | NA | NA | No improvement after taking pyridoxine and folinic acid |
| P6 | M | 4 m | 12 m | c.714+4A>T/c.714+4A>T | Severe | Bedridden | Normal | Delayed myelination | 873.58 | NA | Improved in autonomic symptoms after taking pyridoxine, pramipexole, selegiline, and trihexyphenidyl |
| P7 | F | 4 m | 8 m | c.714+4A>T/c.714+4A>T | Severe | Bedridden | Normal | Normal | NA | NA | Improved in hypotonia after taking pyridoxine and selegiline |
| P8 | M | 5 m | 20 m | c.714+4A>T/c.714+4A>T | Severe | Bedridden | Normal | Normal | 650 | NA | Improved in hypotonia after taking pyridoxine and rotigotine |
| P9 | F | 3 m | 19 m | c.714+4A>T/c.1234C>T | Severe | Bedridden | NA | NA | NA | NA | Improved in hypotonia and oculogyric crises after taking pyridoxine and selegiline |
| P10 | F | 3 m | 14 m | c.1234C>T/c.174+4A>T | Severe | Bedridden | Normal | NA | NA | NA | Improved in oculogyric crises and mood after taking pyridoxine, folinic acid, and clonazepam |
| P11 | M | 3.5 m | 8 m | c.1234C>T/c.174+4A>T | Severe | Bedridden | NA | Delayed myelination | NA | NA | Pyridoxine was discontinued due to worsening of oculogyric cirses |
| P12 | M | 3 m | 8 m | c.179T>C/c.714+4A>T | Severe | Bedridden | Normal | Delayed myelination | 2110.56 | NA | Improved in hypotonia after taking pyridoxine and selegiline |
| P13 | F | 7 m | 9 m | c.714+4A>T/c.179T>C | Severe | Bedridden | Normal | Increased extracerebral space | 1366.67 | 0.1324 | Improved in autonomic symptoms and dystonia after taking pyridoxine and trihexyphenidyl |
| P14 | F | 3 m | 25 m | c.1297dupA/c.714+4A>T | Severe | Bedridden | Normal | Increased extracerebral space | NA | NA | Improved in hypotonia after taking pyridoxine, selegiline, and rotigotine |
| P15 | M | 4 m | 9 m | c.1297dupA/c.714+4A>T | Severe | Bedridden | Normal | Normal | NA | NA | Improved in autonomic symptoms after taking pyridoxine, L-dopa, ambroxol, biotin, and L-carnitine |
| P16 | M | 2.5 m | 8 m | c.1339C>T/c.714+4A>T | Severe | Bedridden | Normal | Normal | 1428.316 | NA | Limited improvement in excessive sweating after taking pyridoxine, selegiline and trihexyphenidyl; L-dopa was discontinued due to worsening of oculogyric crises |
| P17 | M | 4 m | 18 m | c.714+4A>T/c.106G>A | Severe | Bedridden | NA | NA | 700 | NA | No improvement after taking pyridoxine |
| P18 | M | 4 m | 14 m | c.714+4A>T/c.175G>A | Severe | Bedridden | NA | NA | NA | NA | Improved in ptosis and dystonia after taking pyridoxine, selegiline, pramipexole, and folinic acid |
| P19 | M | 2 m | 5 m | c.1312T>C/c.714+4A>T | Severe | Bedridden | Normal | Normal | NA | NA | No improvement after taking pyridoxine, pramipexole, and trihexyphenidyl |
| P20 | M | 3 m | 4 m | c.714+4A>T/c.1234C>T | Severe | Bedridden | Posterior temporal sharp slow wave | Normal | NA | NA | No improvement after taking levetiracetam |
| P21 | F | 3 m | 11 m | c.714+4A>T/c.175G>A | Severe | Bedridden | Normal | Normal | 1711.79 | 0.3174 | Improved in head control after taking pyridoxine, pramipexole |
| P22* | F | 1 m | 19 m | c.1234C>T/c.170T>C | Severe | Bedridden | Slow background | Normal | NA | NA | Improved in hypotonia and autonomic symptoms after taking pyridoxine and rotigotine |
| P23* | F | 4 m | 15 m | c.1234C>T/c.179T>C | Severe | Bedridden | 2–3.5 Hz slow wave | Normal | NA | NA | Improved in hypotonia after taking pyridoxine and selegiline |
NA not analysis
aThese patients have been reported previously