BIOPKU Search

BH4_Responder

Yes

Allele 1

Variation 1

p.L48S

Nucleotide aberration 1

c.143T>C

Location in gene 1

Exon 2

PAH domain 1

regulatory

Residual actiivity (System) 1

39% (A293)

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.L48S

Nucleotide aberration 1

c.143T>C

Location in gene 1

Exon 2

PAH domain 1

regulatory

Residual activity (System) 1

39% (A293)

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 (%)

33

Phe reduction at 24h (%)

52

Phe reduction at 48h (%)

Phe/BH4 load (mg BH4/kg)

Phe reduction at 8h (%) 2

Phe reduction at 15h (%)

Phenotype

mild PKU

Phe at diagnosis (uM)

990

Phe before loading (uM)

1076

On treatment with BH4

No

Dosage BH4 (mg/kg/d)

BH4 Dosage

20mg

Test Duration

24h

Comments and References

Comments

References

Fiege, B., L. Bonafé, D. Ballhausen, M. Baumgartner, B. Thöny, D. Meili, L. Fiori, M. Giovannini and N. Blau (2005). "Extended tetrahydrobiopterin loading test in the diagnosis of cofactor-responsive phenylketonuria: A pilot study." Mol Genet Metab 86: S91-S95.

Literature URL

View Reference

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