Table 1.
Analysis of pretreatment CSF biochemical findings in previous descriptions of patients with PNPO deficiency
| Patients | PLP | 5-HIAA | HVA | 3-Ortho-methyldopa | |||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| Low | Lower limit of normal | Normal | Low | Normal | High | Low | Normal | High | Normal | High | |
| This report | ✓ | ✓ | ✓ | ✓ | |||||||
| 1 (A)a | ✓a | ✓a | ✓a | NA | NA | ||||||
| 2 (B) | ✓ | ✓ | ✓ | NA | NA | ||||||
| 5 (E) | ✓ | ✓ | ✓ | ✓ | |||||||
| 6 (F) | NA | NA | NA | ✓ | ✓ | ✓ | |||||
| 9 (H) | NA | NA | NA | ✓ | ✓ | NA | NA | ||||
| 10 (H) | NA | NA | NA | ✓ | ✓ | NA | NA | ||||
| 11 (H) | NA | NA | NA | ✓ | ✓ | NA | NA | ||||
| 14 (I) | NA | NA | NA | ✓ | ✓ | ✓ | |||||
| 15 (I) | NA | NA | NA | ✓ | ✓ | ✓ | |||||
| 17 (J) | ✓ | ✓ | ✓ | ✓ | |||||||
| 18 (K) | ✓ | ✓ | ✓ | ✓ | |||||||
| 19 (K) | ✓ | ✓ | ✓ | ✓ | |||||||
| 33 (X) | ✓ | ✓ | ✓ | ✓ | |||||||
| 34 (Y) | NA | NA | NA | ✓ | ✓ | NA | NA | ||||
| 35 (Z) | NA | NA | NA | ✓ | ✓ | NA | NA | ||||
| 37 (AA) | NA | NA | NA | ✓ | ✓ | ✓ | |||||
| 39 (BB) | NA | NA | NA | ✓ | ✓ | ✓ | |||||
| 45 (FF) | NA | NA | NA | ✓ | ✓ | ✓ | |||||
| 46 (GG)a | NA | NA | NA | ✓a | ✓a | ✓a | |||||
| Info available | 7 | 7 | 7 | 19 | 19 | 19 | 19 | 19 | 19 | 12 | 12 |
| n | 6 | 1 | 0 | 7 | 8 | 4 | 7 | 9 | 3 | 3 | 9 |
| % | 86 | 14 | 0 | 37 | 42 | 21 | 37 | 47 | 16 | 25 | 75 |
Information concerning our patient is included in the table for the sake of comparison, but was not used in the analysis.
5-HIAA 5-hydroxyindolacetate, HVA homovanillic acid, hz homozygous, NA not available, PLP pyridoxal 5′-phosphate
aThese patients were receiving pyridoxine at the time of sampling.