Characteristics of definite, probable, and possible pyridoxine dependent patients
| Patient* | Birth year | Definite | Probable | Possible | Gender | Intrauterine seizures | Age at 1st seizure | Age at 1st pyridoxine | Initial dose (mg) | Age at trial | Maintenance dose (mg/day) | Development | Other major diagnoses or complications |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| *Patient number of sibling in parentheses. | |||||||||||||
| PPHN, persistent pulmonary hypertension of the newborn. | |||||||||||||
| 1 (5) | 1991 | X | F | No | 2 days | 9 days | 150 | – | 50 | Delayed initially but currently normal | – | ||
| 2 | 1992 | X | ? | No | 4 days | 6 months | 100 | 1.7 years | 100 | Delayed; attends special school | – | ||
| 3 (7) | 1992 | X | F | No | <1 day | 2 months | 25 | 2 months | 60 | Normal | – | ||
| 4 (6) | 1992 | X | ? | No | 8 days | 2 months | 100 | 2 months | 100 | Mildly affected motor skills | – | ||
| 5 (1) | 1993 | X | F | No | 2 days | 2 days | 50 | – | 50 | Psychomotor delay; attends special school | PPHN, birth asphyxia | ||
| 6 (4) | 1994 | X | F | ? | ? | ? | ? | – | 100 | Normal | – | ||
| 7 (3) | 1995 | X | M | No | 8 days | 8 days | 60 | – | 60 | Lost to follow up | – | ||
| 8 | 1998 | X | M | No | <1 day | 3 days | 50 | – | 50 | Delayed | Hydrocephalus, cerebral palsy | ||
| 9 | 2001 | X | ? | No | 3 days | 8 months | 50 | 8 months | 50 | Psychomotor delay; poor language skills | – | ||
| 10 | 2003 | X | F | Yes | <1 day | 2 days | 50 | 2 days | 50 | Psychomotor delay | – | ||
| 11 | 2003 | X | M | No | 1 day | 2 weeks | ? | – | 100 | Normal | – | ||