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 (%)

Phe reduction at 24h (%)

44

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)

401

On treatment with BH4

No

Dosage BH4 (mg/kg/d)

BH4 Dosage

20mg

Test Duration

24h

Comments and References

Comments

patient was on diet

References

Leuzzi, V., C. Carducci, C. Carducci, F. Chiarotti, C. Artiola, T. Giovanniello and I. Antonozzi (2006). "The spectrum of phenylalanine variations under tetrahydrobiopterin load in subjects affected by phenylalanine hydroxylase deficiency." J Inherit Metab Dis 29(1): 38-46.

Literature URL

View Reference

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