Table 1.
Characteristics of late-diagnosed (> 7 years) PKU patients who have escaped from intellectual disability despite high plasma Phe concentrations
| Patient characteristics | Frequency (percentage) |
|---|---|
| Gender: | |
| -male | 12 (20%) |
| -female | 45 (76%) |
| -not reported | 2 (3%) |
| Reason diagnosis: | |
| -PKU sibling | 19 (32%) |
| -PKU offspring | 8 (16%) |
| -affected offspring | 19 (32%) |
| -screening | 10 (17%) |
| -PKU relative | 1 (2%) |
| -other | 6 (10%) |
| -not reported | 2 (3%) |
| Genetic confirmation of PAH deficiency | |
| -yes | 14 (24%) |
| -not reported | 45 (76%) |
| Intellectual Quotient (IQ): | |
| 80–90 | 17 (29%) |
| 90–100 | 16 (27%) |
| 100–120 | 12 (20%) |
| ≥ 120 | 2 (3%) |
| “normal” | 12 (20%) |
| Neurological outcome: | |
| -abnormal | 17 (68%) |
| -no abnormalities (reported) | 8 (32%) |
| Psychological/psychiatric/social outcome: | |
| -abnormal | 10 (48%) |
| -no abnormalities (reported) | 11 (52%) |