BIOPKU Search

BH4_Responder

No

Allele 1

Variation 1

p.L15Sfs

Nucleotide aberration 1

c.44_45delCT

Location in gene 1

Exon 1

PAH domain 1

regulatory

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

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 (%)

0

Phe reduction at 24h (%)

0

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)

Phe before loading (uM)

On treatment with BH4

No

Dosage BH4 (mg/kg/d)

BH4 Dosage

20mg

Test Duration

24h

Comments and References

Comments

Phe at diagnosis >1200 uM

References

Bardelli, T., M. A. Donati, S. Gasperini, F. Ciani, F. Balli, N. Blau, A. Morrone and E. Zammarchi (2002). "Two novel genetic lesions and a common BH4-responsive mutation of the PAH gene in Italian patients with hyperphenylalaninemia." Mol Genet Metab 77: 260-266.

Literature URL

View Reference

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