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 |
Specialty: Endocrinology, Clinical Laboratory, Genetics