Tetrahydrobiopterin responsiveness in phenylketonuria differs between patients with the same genotype.
Mol Genet Metab
; 73(1): 104-6, 2001 May.
Article
em En
| MEDLINE
| ID: mdl-11350190
ABSTRACT
Recently, BH(4)-responsive phenylalanine hydroxylase (PAH) deficiency was reported in patients with specific mutations in the PAH gene, and it was suggested that BH(4) responsiveness may be determined by the respective genotypes. We now report on three patients with PAH deficiency and the same genotype but different responses to standardized BH(4) loading. Our results suggest that BH(4) responsiveness in PAH deficiency is at least partly independent from PAH genotype.
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Base de dados:
MEDLINE
Assunto principal:
Fenilalanina Hidroxilase
/
Fenilcetonúrias
/
Biopterinas
Idioma:
En
Ano de publicação:
2001
Tipo de documento:
Article