Table 1.
Individual Characteristics of 8 Adult Subjects with PKU
| Childhood tolerance |
Adult tolerance |
||||||
|---|---|---|---|---|---|---|---|
| Subject/Sex | Age | BMIa | Genotype | Expected Phenotypeb | Age 5c | Initial | Final |
| y | kg/m2 | mg phe/kg wt | mg phe/kg wt | mg phe/kg wt | |||
| 1/M | 27 | 24 | R408W IVS12nt1g->a | Classic | 13 (248)d | 6.9 (505) | 15.7 (1149) |
| 2/M | 29 | 23 | R261Q R408W | Moderate | 11.5 (215) | 9.8 (658) | 26.8 (1793) |
| 6/F | 23 | 21 | R408W IVS12nt1g->a | Classic | 9 (151) | 8.1 (423) | 10.8 (550) |
| 7/F | 28 | 25 | L242F R408W | Classic | 14 (241) | 4.7 (304) | 8.5 (545) |
| 8/M | 27 | 26 | R261Q E280K | Moderate | 17 (332) | 10.4 (787) | 12.8 (971) |
| 9/F | 20 | 26 | L48S F299C | Mild | 16 (273) | 4.1 (265) | 4.8 (305) |
| 10/F | 31 | 28 | F299C R408W | Classic | 10.4 (179) | 2.6 (188) | 6.5 (457) |
| 11/M | 28 | 28 | IVS1nt5g->t IVS12nt1g->a | Classic | 14.2 (310) | 9.2 (840) | 7.7 (697) |
| Meane | 27 ± 1 | 25 ± 0.9 | 13.1 ± 1 | 7.0 ± 1.0*† | 11.7 ± 2.5 | ||
a
Body mass index, BMI
b
Expected phenotype based on individual mutations as described in Guldberg et al [15].
c
Childhood tolerance at age 5 based on a chart review of clinic records. All subjects were in good phe control based on an average of 2 phe concentrations within 3 months of each subject’s fifth birthday.
d
mg phe/day shown in parentheses
e
Values are mean ± SEM
*
Indicates significantly different from childhood tolerance, two-tailed paired t-test, pairing on subject; P=0.002
†
Indicates different from final adult tolerance; two-tailed paired t-test, pairing on subject; P=0.055