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 (%)

83

Phe reduction at 24h (%)

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)

Phe before loading (uM)

726

On treatment with BH4

No

Dosage BH4 (mg/kg/d)

BH4 Dosage

20mg

Test Duration

8h

Comments and References

Comments

References

Blau, N. and F. K. Trefz (2002). "Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency: Possible regulation of gene expression in a patient with the homozygous L48S mutation." Mol Genet Metabol 75: 186-187.
Trefz, F. K., D. Scheible, G. Frauendienst-Egger, H. Korall and N. Blau (2005). "Long-term treatment of patients with mild and classical phenylketonuria by tetrahydrobiopterin." Mol Genet Metab(86): S75-S80.

Literature URL

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