Introduction Pocket Metab Impressum
··· Diseases ··· Symptoms ··· Lab Parameters ··· Authors ··· Ramedis ··· BH4 Patient BH4 responsive genotype in PKU/HPA
Phenylketonuria (PKU) is a heterogenous genetic metabolic disorder caused by a deficiency in the phenylalanine hydroxylase (PAH). In a subset of patients with PKU 6R - Tetrahydrobiopterin (6 R- BH4) stimulates residual activity of mutant PAH and reduces blood phenylalanine (phe) concentrations in some patients with a BH4 sensitive mutation.
There is evidence that the genotype (mutations in both alleles) is important for BH4 sensitivity.
This database gives rapid information about BH4 responsiveness based on published and own data on 254 patients with PKU/Hyperphenylalaninenemia.
BH4 responsiveness is defined as a 30% reduction in blood phenylalanine levels 24 hours after the load with BH4, a partial reduction as 10-29%.
AuthorAllele1Allele2Responsive
Hennermann et al. p.A403V IVS10-11G>A yes
Autoren: Prof. Dr. Friedrich Trefz, Dr. Frauendienst und Hermann Götz. E-Mail: trefz_f@kreiskliniken-reutlingen.de
Last update 29.12.2009 07:05:52