The Molecular Bases of Phenylketonuria (PKU) in New South Wales, Australia: Mutation Profile and Correlation with Tetrahydrobiopterin (BH4) Responsiveness.
作者： Gladys Ho , Ian Alexander , Kaustuv Bhattacharya , Barbara Dennison , Carolyn Ellaway
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摘要: Phenylketonuria (PKU) is an autosomal recessive inborn error of phenylalanine metabolism predominantly caused by mutations in the hydroxylase (PAH) gene. Mutation screening was carried out a large cohort PKU patients from New South Wales, Australia. Pathogenic were identified 99% alleles screened, with two most common (p.R408W and IVS12+1G>A) accounting for 30.7% alleles. Most individuals compound heterozygotes previously reported mutations, but four novel (c.163+1G>T, c.164-2A>G, c.461A>T [p.Y154F], c.510-1G>A) polymorphism (c.60+62C>T) also identified. A number have been tested their response to dietary supplementation tetrahydrobiopterin (BH4), cofactor PAH. Correlation between genotype responses revealed that although major determinant BH4 responsiveness, same may show disparate this treatment. clinical biochemical evaluation should be undertaken determine effectiveness treatment BH4.
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