Table 3.
Analysis of clinical findings in previous descriptions of patients with PNPO deficiency
| GA | Sz onset | Seizure type | Acidosis | EEG | Pyridoxine | PLP | Outcome | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Patients | PNPO mutations | <37 weeks | ≤24 h | Any | Myoclonic | Abnormal mvts of the head/eye/ mouth | Metabolic acidosis | Burst suppression | Received | Response | Received | Response | Death | Mild delay or normal development | Alive but significant sequelae |
| This report | hz R225H | ✓ | ✓ | ✓ | ✓ | ✓ | Yes | +/− | No | ✓ | |||||
| 1 (A) | hz G118R | ✓ | ✓ | ✓ | ✓ | Yes | + | Yes | + | ✓ | |||||
| 2 (B) | hz D33V | ✓ | ✓ | Yes | − | Yes | + | ✓ | |||||||
| 3 (C) | hz R225C | ✓ | ✓ | ✓ | Yes | − | Yes | + | ✓ | ||||||
| 4 (D) | D33V+c.246delT | ✓ | ✓ | ✓ | Yes | − | Yes | + | ✓ | ||||||
| 5 (E) | hz A174X | ✓ | ✓ | ✓ | ✓ | ✓ | ✓ | Yes | − | Yes | +/− | ✓ | |||
| 6 (F) | hz R95H | ✓ | ✓ | ✓ | ✓ | NA | Yes | +/− | No | ✓ | |||||
| 7 (G) | Presumably hz R95C | ✓ | ✓ | NA | NA | NA | No | No | ✓ | ||||||
| 8 (G) | hz R95C | ✓ | ✓ | ✓ | Yes | − | Yes | + | ✓ | ||||||
| 9 (H) | hz R95C | ✓ | ✓ | NA | NA | ✓ | ✓ | Yes | − | Yes | + | ✓ | |||
| 10 (H) | Presumably hz R95C | ✓ | ✓ | NA | NA | ✓ | No | No | ✓ | ||||||
| 11 (H) | hz R95C | ✓ | ✓ | ✓ | NA | Yes | − | No | ✓ | ||||||
| 12 (I) | Presumably hz R229W | ✓ | ✓ | NA | NA | NA | No | No | ✓ | ||||||
| 13 (I) | Presumably hz R229W | ✓ | ✓ | NA | NA | NA | No | No | ✓ | ||||||
| 14 (I) | hz R229W | ✓ | ✓ | ✓ | ✓ | ✓ | ✓ | ✓ | Yes | +/− | No | ✓ | |||
| 15 (I) | hz R229W | ✓ | ✓ | ✓ | ✓ | ✓ | ✓ | ✓ | Yes | +/− | No | ✓ | |||
| 16 (J) | Presumably hz IVS3-1G>A | ✓ | ✓ | ✓ | NA | NA | ✓ | NA | No | No | ✓ | ||||
| 17 (J) | hz IVS3-1G>A | ✓ | ✓ | ✓ | ✓ | ✓ | ✓ | Yes | − | Yes | + | ✓ | |||
| 18 (K) | hz X262Q | ✓ | ✓ | ✓ | NA | NA | ✓ | Yes | − | No | ✓ | ||||
| 19 (K) | hz X262Q | ✓ | ✓ | ✓ | NA | NA | ✓ | ✓ | Yes | − | No | ✓ | |||
| 20 (L) | R95H+E50K, c.364-1G>A (splice errors) | ✓ | ✓ | ✓ | NA | NA | ✓ | ✓ | Yes | − | Yes | + | ✓ | ||
| 21 (M) | hz D33V | ✓ | ✓ | NA | Yes | − | Yes | + | ✓ | ||||||
| 22 (N) | hz P213S | ✓ | ✓ | ✓ | Yes | − | Yes | + | ✓ | ||||||
| 23 (N) | hz P213S | ✓ | None | No | Yes | + | ✓ | ||||||||
| 24 (O) | hz R95C | ✓ | ✓ | ✓ | ✓ | ✓ | No | Yes | + | ✓ | |||||
| 25 (P) | Q214fs+? | ✓ | ✓ | ✓ | ✓ | ✓ | Yes | − | Yes | + | ✓ | ||||
| 26 (Q) | hz R116Q | ✓ | No | Yes | + | ✓ | |||||||||
| 27 (R) | hz R116Q | ✓ | Yes | + | No | ✓ | |||||||||
| 28 (S) | hz D33V | ✓ | ✓ | ✓ | ✓ | ✓ | Yes | + | Yes | Irritability, increase in sz | ✓ | ||||
| 29 (T) | hz D33V | ✓ | NA | NA | Yes | + | No | ✓ | |||||||
| 30 (U) | D33V+c.264-21_264-1delinsC (splice errors) | ✓ | NA | NA | Yes | + | Yes | + | ✓ | ||||||
| 31 (V) | D33V; R116Q; R225C (no parental data) | ✓ | ✓ | ✓ | NA | NA | NA | Yes | + | No | ✓ | ||||
| 32 (W) | R116Q; R225H+R116Q; R225H | NA | ✓ | ✓ | NA | Yes | + | Yes | Recurrence of sz | ✓ | |||||
| 33 (X) | hz IVS2+2T>C | ✓ | ✓ | ✓ | NA | NA | ✓ | ✓ | Yes | − | Yes | + | ✓ | ||
| 34 (Y) | hz R225H | ✓ | ✓ | ✓ | ✓ | ✓ | Yes | + | Yes | + | ✓ | ||||
| 35 (Z) | hz R229Q | ✓ | ✓ | ✓ | ✓ | ✓ | No | Yes | + | ✓ | |||||
| 36 (AA) | Presumably R116Q; R225H+R116Q; R225H | ✓ | ✓ | ✓ | ✓ | ✓ | Yes | − | No | ✓ | |||||
| 37 (AA) | R116Q; R225H+R116Q; R225H | ✓ | ✓ | ✓ | ✓ | ✓ | Yes | + | Yes | SE | ✓ | ||||
| 38 (BB) | Presumably hz R225H | NA | NA | ✓ | ✓ | ✓ | Yes | − | No | ✓ | |||||
| 39 (BB) | hz R225H | ✓ | ✓ | ✓ | NA | Yes | + | Yes | SE | ✓ | |||||
| 40 (BB) | hz R225H | ✓ | ✓ | ✓ | ✓ | Yes | + | No | ✓ | ||||||
| 41 (CC) | R141C+S93S; A94_L97del | ✓ | ✓ | Yes | + | No | ✓ | ||||||||
| 42 (DD) | hz R225H | ✓ | NA | ✓ | ✓ | ✓ | Yes | + | No | ✓ | |||||
| 43 (DD) | hz R225H | ✓ | ✓ | ✓ | Yes | + | No | ✓ | |||||||
| 44 (EE) | hz R225H | ✓ | ✓ | Yes | + | No | ✓ | ||||||||
| 45 (FF) | hz R225H | ✓ | ✓ | ✓ | NA | Yes | + | No | ✓ | ||||||
| 46 (GG) | hz R225H | ✓ | ✓ | ✓ | Yes | + | No | ✓ | |||||||
| Info available | 44 | 44 | 46 | 33 | 33 | 46 | 35 | 46 | 46 | 46 | 46 | 46 | |||
| n | 27 | 27 | 45 | 20 | 9 | 13 | 20 | 37 | 17 | 24 | 18 | 14 | 20 | 12 | |
| % | 61 | 61 | 98 | 61 | 27 | 28 | 57 | 80 | 46 | 52 | 75 | 30 | 43 | 26 | |
Information concerning our patient is included in the table for the sake of comparison, but is not used in the analysis.
EEG electroencephalogram, GA gestational age, hrs hours, hz homozygous (in some publications, it is not clear whether this was verified by parental studies), mvts movements, NA not available, PLP pyridoxal-5′-phosphate, treatment with, presumably genotype not reported, but presumed to be the same as that of an affected sibling, SE status epilepticus, sz seizure(s), wks weeks