Guldberg et al correlated a patient's genotype for phenylalanine hydroxylase (PAH) with phenotype when both genes are mutated. The authors are from multiple institutions in Europe.
Patient selection: hyperphenylalaninemia with 2 mutated genes
Mutation
Assigned Value (AV)
classic PKU
1
moderate PKU
2
mild PKU
4
MHP (mild hyperphenylalaninemia)
8
combined AV score =
= (AV first mutation) + (AV second mutation)
First Mutation
Second Mutation
Combined AV Score
classic PKU (1)
classic PKU (1)
2
classic PKU (1)
moderate PKU (2)
3
classic PKU (1)
mild PKU (4)
5
classic PKU (1)
MHP (8)
9
moderate PKU (2)
moderate PKU (2)
4
moderate PKU (2)
mild PKU (4)
6
moderate PKU (2)
MHP (8)
10
mild PKU (4)
mild PKU (4)
8
mild PKU (4)
MHP (8)
12
MHP (8)
MHP (8)
16
Combined AV Score
Phenotype
2
classic PKU
3
moderate PKU
4
moderate/mild PKU
5 to 7
mild PKU
8
mild PKU/MHP
9 to 16
MHP
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