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Frequency of PAH mutation types in patients with PKU evaluated for BH4 responsiveness (N = 58).
| Mutation type | Of the 47 distinct mutations, n (%) |
Of the 116 alleles, n (%) |
|---|---|---|
| Missense mutations | 30 (63.8%) | 78 (67.2%) |
| mRNA processing mutations | 8 (17.0%) | 24 (20.7%) |
| Nonsense mutations | 4 (8.5%) | 7 (6.0%) |
| Deletions | 5 (10.6%) | 5 (4.3%) |
| Mutation not identified | – | 2 (1.7%) |
