BIOPKU Search

BH4_Responder

Yes

Allele 1

Variation 1

p.G46S

Nucleotide aberration 1

c.136G>A

Location in gene 1

Exon 2

PAH domain 1

regulatory

Residual actiivity (System) 1

0 (E.coli TB1)

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.R243Q

Nucleotide aberration 1

c.728G>A

Location in gene 1

Exon 7

PAH domain 1

catalytic

Residual activity (System) 1

32% (E.coli); <10% (COS)

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

BH4 load (mg/kg)

20

Phe reduction at 8h (%)

8

Phe reduction at 24h (%)

40

Phe reduction at 48h (%)

Phe/BH4 load (mg BH4/kg)

Phe reduction at 8h (%) 2

Phe reduction at 15h (%)

Phenotype

classic PKU

Phe at diagnosis (uM)

1748

Phe before loading (uM)

1793

On treatment with BH4

No

Dosage BH4 (mg/kg/d)

BH4 Dosage

20mg

Test Duration

24h

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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