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

IVS10-11G>A

Nucleotide aberration 1

c.1066-11G>A

Location in gene 1

IVS 10

PAH domain 1

Residual activity (System) 1

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 (%)

Phe reduction at 24h (%)

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)

2454

Phe before loading (uM)

On treatment with BH4

No

Dosage BH4 (mg/kg/d)

BH4 Dosage

20mg

Test Duration

8h

Comments and References

Comments

References

Desviat, L. R., B. Perez, A. Belanger-Quintana, M. Castro, C. Aguado, A. Sanchez, M. J. Garcia, M. Martinez-Pardo and M. Ugarte (2004). "Tetrahydrobiopterin responsiveness: results of the BH4 loading test in 31 Spanish PKU patients and correlation with their genotype." Mol Genet Metab 83(1-2): 157-62.

Literature URL

View Reference

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