Newborn | Fluorometric assay Phenylalanine levels (mg/dl) | PEARS-101 test | |||||
---|---|---|---|---|---|---|---|
Original bloodspot | Repeat bloodspot | PKU Diagnosis | PAH variants detected | Predicted amino acid change | Pathogenicity Classification* | Diagnosis | |
Retrospective study (n = 9) | |||||||
 PKU-1 | 9.71 | 10.5 | Moderate | c.827 T > A | p.M276K | Pathogenic | PKU |
c.728G > A | p.R243Q | Pathogenic | |||||
 PKU-2 | 15.4 | 40.4 | Severe | c.1197A > T | p.V399 V# | Pathogenic | PKU |
c.728G > A | p.R243Q | Pathogenic | |||||
 PKU-3 | 19.1 | 21.7 | Severe | c.1215_1219del | p.T405 fs | Pathogenic | PKU |
c.1199 + 1G > C | mRNA splicing | Pathogenic | |||||
 PKU-4 | 26.9 | 36.2 | Severe | c.1197A > T | p.V399 V# | Pathogenic | PKU |
c.740G > T | p.G247 V | Pathogenic | |||||
 PKU-5 | 14.6 | 45.8 | Severe | c.1197A > T | p.V399 V# | Pathogenic | Normal |
 PKU-6 | 12.5 | 39.2 | Severe | c.331C > T | p.R111X | Pathogenic | PKU |
c.611A > G | p.Y204C | Pathogenic | |||||
 PKU-7 | 22.8 | 30.0 | Severe | c.1197A > T | p.V399 V# | Pathogenic | PKU |
c.728G > A | p.R243Q | Pathogenic | |||||
 PKU-8 | 19.3 | 30.9 | Severe | c.331 C > T | p.R111X | Pathogenic | PKU |
c.782G > A | p.R261Q | Pathogenic | |||||
 PKU-9 | 6.3 | 9.7 | Moderate | c.721C > T | p.R241C | Pathogenic | PKU |
c.728G > A | p.R243Q | Pathogenic | |||||
Prospective study (n = 211) | |||||||
 S-43 | 10.4 | 36.9 | Severe | c.611A > G | p.Y204C | Pathogenic | PKU |
c.47-48del | p.S16 fs | Pathogenic | |||||
 S-109 | 5.4 | 8.1 | Moderate | c.782G > A | p.R261Q | Pathogenic | PKU |
c.721C > T | p.R241C | Pathogenic | |||||
 S-119 | <  2.0 | ND | Normal | c.1064C > A | p.Y356X | Pathogenic | Normal |
 S1-S208* | <  2.0 | ND | Normal | None | Not relevant | Not relevant | Normal |