BIOPKU Search

BH4_Responder

Slow

Allele 1

Variation 1

p.F39del

Nucleotide aberration 1

c.115_117delTTC

Location in gene 1

Exon 2

PAH domain 1

regulatory

Residual actiivity (System) 1

20% (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.R261X

Nucleotide aberration 1

c.781C>T

Location in gene 1

Exon 7

PAH domain 1

catalytic

Residual activity (System) 1

0

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 (%)

26

Phenotype

classic PKU

Phe at diagnosis (uM)

Phe before loading (uM)

638

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

Confidentiality of data relating to individual patients and visitors to the BioPKU Web site, including their identity, is respected by this Web site. The Web site owners undertake to honour or exceed the legal requirements of medical/health information privacy that apply in the country and state where the Web site and mirror sites are located.
Web site and all contents © BioPKU.org 2008	A