The molecular basis of phenylketonuria in Koreans

  title={The molecular basis of phenylketonuria in Koreans},
  author={Dong Hwan Lee and Soo Kyung Koo and Kwang Soo Lee and Young Joo Yeon and Hyun-Jeong Oh and Sang-Wun Kim and Sook-Jin Lee and Sung-Soo Kim and Jong-Eun Lee and Inho Jo and Sung-Chul Jung},
  journal={Journal of Human Genetics},
AbstractPhenylketonuria (PKU) is an inborn error of metabolism that results from a deficiency of phenylalanine hydroxylase (PAH). We characterized the PAH mutations of 79 independent Korean patients with PKU or hyperphenylalaninemia. PAH nucleotide sequence analysis revealed 39 different mutations, including ten novel mutations. The novel mutations consisted of nine missense mutations (P69S, G103S, N207D, T278S, P281A, L293M, G332V, S391I, and A447P) and a novel splice site variant (IVS10−3C>G… 
Molecular characterization of phenylketonuria and tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency in Japan
The genotypes of 203 Japanese patients with PKU and hyperphenylalaninemia were characterized using the following systems: denaturing high-performance liquid chromatography with a GC-clamped primer; direct sequencing; and, multiplex ligation-dependent probe amplification.
Structural and functional analyses of mutations of the human phenylalanine hydroxylase gene.
The mutation spectrum of the phenylalanine hydroxylase (PAH) gene and associated haplotypes reveal ethnic heterogeneity in the Taiwanese population
The study of PAH mutation spectrum and the associated haplotypes is useful for subsequent study on the origin and migration pattern via Taiwan, an island at the historical crossroad of migration of ancient populations.
Mutational Spectrum of Phenylketonuria in the Chinese Han Population: A Novel Insight into the Geographic Distribution of the Common Mutations
It is shown that there are no significant differences of the common mutations between southern and northern except for R413P statistically, raising questions about the previous hypothesis that great variations on mutation frequencies exist between above regions.
Phenylketonuria mutations in Northern China.
Mutational spectrum of the phenylalanine hydroxylase gene in patients with phenylketonuria in the central region of China
The mutational spectrum of PAH in the central region of China is characterized and a novel mutation, located in exons 2–13, and intron 12 of the PAH gene, with a relative frequency of ≥5%, is identified.
The Molecular Bases of Phenylketonuria (PKU) in New South Wales, Australia: Mutation Profile and Correlation with Tetrahydrobiopterin (BH4) Responsiveness.
Correlation between genotype and the responses revealed that although genotype is a major determinant of BH4 responsiveness, patients with the same genotype may also show disparate responses to this treatment.
Mutational and phenotypic spectrum of phenylalanine hydroxylase deficiency in Zhejiang Province, China
The mutational and phenotypic spectrum of PAHD in a cohort of 420 patients from neonatal screening between 1999 and 2016 is described to provide a valuable tool for improved genetic counseling and management of future cases of PA HD in China.
Spectrum of PAH gene variants among a population of Han Chinese patients with phenylketonuria from northern China
The composition of PAH gene variants in this Han population from Northern China was distinct from those of other ethnic groups, and the construction of aPAH gene variant database for Northern China is necessary to lay a foundation for genetic-based diagnoses, prenatal diagnoses, and population screening.


[Ten novel mutations in the phenylalanine hydroxylase gene identified in Chinese patients with phenylketonuria].
This study demonstrated the high heterogeneity of the PAH gene and the variety of the mutant type of Chinese PKU population and confirmed the exon 7 was the hot spot ofPAH gene mutation.
Frequency and distribution of phenylketonuric mutations in orientals
The frequency and distribution of eight mutations (R111X, IVS4nt‐1, Y204C, R243Q, IVS7nt‐2, W326X, Y356X, and R413P) in the phenylalanine hydroxylase gene of Orientals in Japan and Korea were
Molecular characterization of phenylketonuria in Japanese patients
Genotype determination is useful in the prediction of biochemical and clinical phenotypes in PKU and can be of particular help in managing patients with this disorder.
Phenylketonuria mutations in Europe
A systematic review of the molecular genetics of PKU in Europe identified 29 mutations that may be regarded as prevalent in European populations and comprehensive regional data for these mutations were collated from all available studies.
Mutation spectrum in Taiwanese patients with phenylalanine hydroxylase deficiency and a founder effect for the R241C mutation
The spectrum of phenylalanine hydroxylase (PAH) gene mutations was determined in 25 families of hyperphenylalaninemia identified by a neonatal screening program in Taiwan to give clues to the movement of populations in Mainland China.
A European multicenter study of phenylalanine hydroxylase deficiency: classification of 105 mutations and a general system for genotype-based prediction of metabolic phenotype.
The classification of 105 PAH mutations may allow the prediction of the biochemical phenotype in >10,000 genotypes, which may be useful for the management of hyperphenylalaninemia in newborns.
A structural hypothesis for BH4 responsiveness in patients with mild forms of hyperphenylalaninaemia and phenylketonuria
It is proposed that other subsets of PAH mutations will have a high likelihood of being responsive to oral BH4 administration, and it is believed that some of these mutations result in expressed mutant enzymes that are Km variants (with a lower binding affinity for BH 4) of the standard PAH enzyme phenotype.
Phenylketonuria: Genotype–phenotype correlations based on expression analysis of structural and functional mutations in PAH
It is demonstrated that the amount of mutant PAH protein and residual activity could be modulated by in vitro experimental conditions, and therefore the observed in vivo metabolic variation may be explained by interindividual variation in the quality control systems.
Molecular and population genetics of phenylketonuria in Orientals: Correlation between phenotype and genotype
This research presents a novel and scalable approach to caring for children with learning disabilities that combines traditional and adoptive care methods.
Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency