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

p.R408W

Nucleotide aberration 1

c.1222C>T

Location in gene 1

Exon 12

PAH domain 1

catalytic

Residual activity (System) 1

2.7% (COS); 1% /TNT-T7)

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 (%)

6

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)

1089

Phe before loading (uM)

1358

On treatment with BH4

No

Dosage BH4 (mg/kg/d)

BH4 Dosage

20mg

Test Duration

24h

Comments and References

Comments

References

Karacic, I., D. Meilei, V. Sarnavka, C. Heintz, B. Thöny, D. Petkovic Ramadza, K. Fumic, D. Mardesic, I. Baric and N. Blau (2009). "Genotype-predicted tetrahydrobiopterin (BH4)-responsiveness and molecular genetics in Croatian patients with phenylalanine hydroxylase (PAH) deficiency " Human Mutat: submitted.

Literature URL

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