Article
Mutations in the regulatory domain of phenylalanine hydroxylase and response to tetrahydrobiopterin.
Genetic testing - 1 Jan 2007
Wang Lin, Surendran Sankar, Michals-Matalon Kimberlee, Bhatia Gita, Tanskley Susan, Koch Richard, Grady James, Tyring Stephen K, Stevens Raymond C, Guttler Flemming, Matalon Reuben
Abstract excerpt
Tetrahydrobiopterin (BH4) is a co-factor that enhances the activity of other enzymes, and this co-factor level is found to be affected in phenylketonuria (PKU), an amino acid metabolism disorder. The present study was aimed at understanding the effect of BH4 on mutations in the regulatory domain of phenylalanine hydroxylase (PAH). Among 14 patients, 5 patients were classical PKU, 3 were atypical PKU, and 6 were...
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