Clinical phenotype | Confirmatory level of Phe (µmol/L) | Genotype | Number of patients |
---|---|---|---|
cPKU | 1849.1 ± 454.16 | p.Arg243Gln / p.Arg243Gln | 3/47 |
p.Arg241Pro / p.Arg243Gln | 1/47 | ||
p.Arg241Cys / c.442-1G > A | 1/47 | ||
p.Arg413Pro/ - | 1/47 | ||
p.Arg413Pro/ p.Arg413Pro | 1/47 | ||
p.Tyr204Cys/ - | 1/47 | ||
p.Tyr204Cys/ p.Arg413Pro | 1/47 | ||
p.Arg111Ter / p.Ser349Ala | 1/47 | ||
p.Ile324Asn / p.Arg243Gln | 1/47 | ||
p.Arg252Gln/ c.1315 + 5G > C | 1/47 | ||
c.168 + 5G > C/ p.Tyr204Cys | 1/47 | ||
p.Ala434Asp/ c.353-2 A > T | 1/47 | ||
p.Arg111Ter / p.Arg243Gln | 1/47 | ||
mPKU | 650.0 ± 242.99 | p.Tyr204Cys/ p.Ala434Asp | 1/47 |
p.Tyr204Cys/p.Ser349Ala | 1/47 | ||
p.Arg241Cys /p.Arg408Trp | 1/47 | ||
p.Arg243Gln / p.Arg241Cys | 1/47 | ||
p.Ile65Thr / p.Val399= | 1/47 | ||
p.Arg111Ter /p.Asp415Asn | 1/47 | ||
c.84-291 A > G / c.84-291 A > G | 1/47 | ||
MHP | 151.7 ± 36.88 | p.Arg53His / p.Arg158Trp | 1/47 |
p.Arg53His / p.Arg241Cys | 1/47 | ||
p.Arg53His / p.Tyr204Cys | 1/47 | ||
p.Arg53His / p.Ser349Ala | 1/47 | ||
p.Arg53His / c.442-1G > A | 1/47 | ||
p.Arg53His / p.Arg243Gln | 1/47 | ||
p.Arg53His / p.Ala165Asp | 1/47 | ||
p.Arg53His / c.509 + 5delG | 1/47 | ||
p.Arg241Cys / p.Ser349Ala | 1/47 | ||
p.Arg241Cys / p.Ala322Thr | 1/47 | ||
p.Phe392Ile/ p.Ala322Asp | 2/47 | ||
p.Arg155His / p.Ala434Asp | 1/47 | ||
p.Val399=/ p.Asn52Ser | 1/47 | ||
c.442-1G > A/ p.Arg176Gln | 1/47 | ||
p.Tyr356Ter/ p.Phe392Ile | 2/47 | ||
p.Asp75His / p.His220Pro | 1/47 | ||
p.Arg243Gln / p.Val230Ile | 1/47 | ||
p.Arg169Ser / p.Arg243Gln | 1/47 | ||
p.Arg241fs / p.Asp101Asn | 1/47 | ||
p.Asp101Asn / p.Tyr204Cys | 1/47 | ||
p.Arg413Pro/ p.Arg176Gln | 1/47 | ||
c.61-907T > C/ p.Val245= | 1/47 | ||
p.Cys217Arg / p.Glu375Glu | 1/47 |