Table 4.
Characteristics of the seven patients who were treated during the neonatal period.
| Patient | 1 | 2 | 3 | 4 | 5 | 6 | 7 |
|---|---|---|---|---|---|---|---|
| Mutation in ATP7A | NE⁎ | IVS8 + 6, t > c, splice site, skip exon 8 | g.2429-2430del, p.Leu762Aspfs*9, exon 10, | g.2298 T > A, p.Leu718*, exon 8 | NE⁎ | g.4060C > G, p.Asp1305Glu, exon 20 | g.3802 del, p.Asp1219Glufs*7, exon 18 |
| Family history | Elder brother | Elder brother | Elder brother | Elder brother | Elder brother | Uncle | Elder brother |
| Gestational age (weeks) | 37 | 37 | 3 | 37 | 34 | 36 | 37 |
| Birth weight (g) | 2148 | 2855 | 1752 | 2804 | 2128 | 2536 | 2510 |
| Age of treatment start (days) | 13 | 2 | 4 | 30 | 14 | 21 | 7 |
| Symptom at the start | Hair abnormalities | Hair abnormalities | None | Hypothermia | Hypothermia, Hair abnormalities | Hair abnormalities | Hair abnormalities |
| Age of head control (months) | No | 5 | Never | − | 4 | 6 | 9 |
| Age of sitting (months) | − | − | Never | − | 16 | 15 | 18 |
| Age of walking alone (years) | − | − | − | − | 8 | 2 | 9 |
| Mental retardation | severe | Severe | severe | Severe | mild | mild | mild |
| Speech | − | − | − | − | + | + | + |
| Convulsion | + | No | + | + | no | no | + |
| Bladder diverticula | + | + | − | + | + | + | + |
| Arterial abnormalities | + | + | + | + | + | + | |
| Skin laxity | + | + | + | + | + | + | + |
| Osteoporosis | + | + | NE | NE | + | + | + |
| Hypotonia | + | + | +++ | + | + | + | + |
| Status | Sudden death at 5 years | Death at 6 years | Death at 1 year and 10 months; trachea spasm | Death at 14 years due to sepsis | Alive at 14 years of age | Alive at 11 years of age | Alive at 10 years of age |
⁎NE: not examined.