BIOPKU Search

BH4_Responder

No

Allele 1

Variation 1

p.P279fsdelC

Nucleotide aberration 1

Location in gene 1

Exon 7

PAH domain 1

catalytic

Residual actiivity (System) 1

?

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.V388M

Nucleotide aberration 1

c.1162G>A

Location in gene 1

Exon 11

PAH domain 1

catalytic

Residual activity (System) 1

43% (COS); 12% (TnT)

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 (%)

2

Phenotype

classic PKU

Phe at diagnosis (uM)

Phe before loading (uM)

877

On treatment with BH4

No

Dosage BH4 (mg/kg/d)

BH4 Dosage

20mg

Test Duration

8h

Comments and References

Comments

References

Perez-Duenas, B., M. A. Vilaseca, A. Mas, N. Lambruschini, R. Artuch, L. Gomez, J. Pineda, A. Gutierrez, M. Mila and J. Campistol (2004). "Tetrahydrobiopterin responsiveness in patients with phenylketonuria." Clin Biochem 37(12): 1083-90.

Literature URL

View Reference

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