TABLE 1.
Manifestations concomitant with PNPO deficiency seizures
| Concomitant non‐neurological disorders | No. of cases | References |
|---|---|---|
| Pre‐maturity | 44 | 1 , 2 , 8 , 9 , 10 , 11 , 13 , 14 , 15 , 16 , 17 , 18 , 20 , 21 , 25 , 26 , 27 , 30 , 34 , 35 , 36 , 43 |
| Oligohydraminous | 3 | 10 , 20 , 35 |
| IUGR | 2 | 10 , 17 |
| Lactic acidosis/metabolic acidosis | 8 | 1 , 2 , 15 , 17 , 20 , 26 |
| Ophthalmological. Pigmentary retinopathy | 2 | 9 , 14 |
| Anemia | 9 | 1 , 9 , 30 , 36 |
| Poor weight gain | 6 | 1 , 9 , 17 |
| GIT features | – | – |
| Abdominal distention | 2 | 1 |
| Dilated bowel loops | 1 | 25 |
| Constipation | 5 | 9 |
| Feeding intolerance | 1 | 8 |
| Hypoglycemia | 3 | 17 , 34 |
| Hypothyroidism | 1 | 9 |
| Cardiac disorders | 2 | 28 , 36 |
Abbreviations: IUGR, intrauterine growth restriction; PNPO, pyridoxamine‐5′‐phosphate oxidase.