BIOPKU Search

BH4_Responder

Yes

Allele 1

Variation 1

p.F39L

Nucleotide aberration 1

c.117C>G

Location in gene 1

Exon 2

PAH domain 1

regulatory

Residual actiivity (System) 1

49% (TNT-T7)

CBR 1

Variation 2

Nucleotide aberration 2

Location in gene 2

PAH domain 2

Residual activity (System) 2

CBR 2

Allele 2

Variation 1

p.D415N

Nucleotide aberration 1

c.1243G>A

Location in gene 1

Exon 12

PAH domain 1

tetramerization

Residual activity (System) 1

72% (E.coli); 114% (TNT-T7)

CBR 1

Variation 2

Nucleotide aberration 2

Location in gene 2

PAH domain 2

Residual activity (System) 2

CBR 2

Other Information

Loading Test

BH4 / Phe

BH4 load (mg/kg)

Phe reduction at 8h (%)

Phe reduction at 24h (%)

Phe reduction at 48h (%)

Phe/BH4 load (mg BH4/kg)

20

Phe reduction at 8h (%) 2

Phe reduction at 15h (%)

65

Phenotype

MHPA

Phe at diagnosis (uM)

Phe before loading (uM)

230

On treatment with BH4

No

Dosage BH4 (mg/kg/d)

BH4 Dosage

20mg

Test Duration

8h

Comments and References

Comments

References

Muntau, A. C., W. Roschinger, M. Habich, H. Demmelmair, B. Hoffmann, C. P. Sommerhoff and A. A. Roscher (2002). "Tetrahydrobiopterin as an alternative treatment for mild phenylketonuria." N Engl J Med 347(26): 2122-32.

Literature URL

View Reference

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