BIOPKU Search

BH4_Responder

No

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.R68S

Nucleotide aberration 1

c.204A>T

Location in gene 1

Exon 3

PAH domain 1

regulatory

Residual activity (System) 1

98% (COS); 76% (E.coli)

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 (%)

14

Phenotype

mild PKU

Phe at diagnosis (uM)

902

Phe before loading (uM)

459

On treatment with BH4

No

Dosage BH4 (mg/kg/d)

BH4 Dosage

20mg

Test Duration

8h

Comments and References

Comments

References

Boveda, M. D., M. L. Couce, D. E. Castineiras, J. A. Cocho, B. Perez, M. Ugarte and J. M. Fraga (2007). "The tetrahydrobiopterin loading test in 36 patients with hyperphenylalaninaemia: evaluation of response and subsequent treatment." J Inherit Metab Dis 30(5): 812.

Literature URL

View Reference

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