Tetrahydrobiopterin responsiveness in phenylketonuria differs between patients with the same genotype.
نویسندگان
چکیده
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.
منابع مشابه
Tetrahydrobiopterin as an alternative treatment for mild phenylketonuria.
BACKGROUND Hyperphenylalaninemia is a common inherited metabolic disease that is due to phenylalanine hydroxylase deficiency, and at least half the affected patients have mild clinical phenotypes. Treatment with a low-phenylalanine diet represents a substantial psychosocial burden, but alternative treatments have not been effective. METHODS To explore the therapeutic efficacy of tetrahydrobio...
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BACKGROUND How to efficiently diagnose tetrahydrobiopterin (BH4) responsiveness in patients with phenylketonuria remains unclear. This study investigated the positive predictive value (PPV) of the 48-hour BH4 loading test and the additional value of genotype. METHODS Data of the 48-hour BH4 loading test (20 mg BH4/kg/day) were collected at six Dutch university hospitals. Patients with ≥30% ph...
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ورودعنوان ژورنال:
- Molecular genetics and metabolism
دوره 73 1 شماره
صفحات -
تاریخ انتشار 2001