The molecular basis of phenylketonuria in Koreans

Journal of Human Genetics

Volumn 49, Issue 11, 2004, Pages 617-621

  Lee, Dong Hwan ^a   Koo, Soo Kyung ^b   Lee, Kwang Soo ^b   Yeon, Young Joo ^c   Oh, Hyun Jeong ^b   Kim, Sang Wun ^b   Lee, Sook Jin ^b   Kim, Sung Soo ^b   Lee, Jong Eun ^c   Jo, Inho ^b   Jung, Sung Chul ^b,d  

^a Soonchunhyang University   (South Korea)

^b Korea National Institute of Health   (South Korea)

^c DNA Link Inc   (South Korea)

^d Ewha Womans University School of Medicine   (South Korea)

Author keywords

Allele; Frequency; Korean; Mutation; Phenylalanine hydroxylase; Phenylketonuria

Indexed keywords

NUCLEOTIDE; PHENYLALANINE 4 MONOOXYGENASE; TETRAHYDROBIOPTERIN;

ALLELE; ARTICLE; CHROMOSOME ANALYSIS; GENE MUTATION; GENOTYPE; HUMAN; JAPAN; KOREA; MAJOR CLINICAL STUDY; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PHENOTYPE; PHENYLKETONURIA; POPULATION RESEARCH; PREVALENCE;

DNA MUTATIONAL ANALYSIS; GENE FREQUENCY; GENOTYPE; HUMANS; KOREA; MUTATION, MISSENSE; PHENYLALANINE HYDROXYLASE; PHENYLKETONURIAS; TIME FACTORS;

EID: 20144363567     PISSN: 14345161     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10038-004-0197-5     Document Type: Article

References (15)

1. Aoki K, Wada Y (1988) Outcome of the patients detected by newborn screening in Japan. Acta Paediatr Jpn 30:429-434
2. Bickel H, Bachmann C, Seekers R, Brandt NJ, Clayton BE, Corrado G, Feingold HJ, Giardini O, Hammersen G, Schonberg D (1981) Neonatal mass screening for metabolic disorders. Eur J Pediatr 137:133-139
3. Chien YH, Chiang SC, Huang A, Chou SP, Tseng SS, Huang YT, Hwu WL (2004) Mutation spectrum in Taiwanese patients with phenylalanine hydroxylase deficiency and a founder effect for the R241C mutation. Hum Mutat 23:206
4. Erlandsen H, Stevens RC (2001) A structural hypothesis for BH4 responsiveness in patients with mild forms of hyperphenylalaninaemia and phenylketonuria. J Inherit Metab Dis 24:213-230
5. Guldberg P, Rey F, Zschocke J, Romano V, Francois B, Michiels L, Ullrich K, Hoffmann GF, Burgard P, Schmidt H, Meli C, Riva E, Dianzani I, Ponzone A, Rey J, Guttler F (1998) A European multicenter study of phenylalanine hydroxylase deficiency: classification of 105 mutations and a general system for genotype-based prediction of metabolic phenotype. Am J Hum Genet 63:71-79
6. Kure S, Hou DC, Ohura T, Iwamoto H, Suzuki S, Sugiyama N, Sakamoto O, Fujii K, Matsubara Y, Narisawa K (1999) Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency. J Pediatr 135:375-378
7. Liu SR, Zuo QH (1986) Newborn screening for phenylketonuria in eleven districts. Chin Med J (Engl) 99:113-118
8. Okano Y, Hase Y, Lee D-H, Furuyama JI, Shintaku H, Oura T, Isshiki G (1992) Frequency and distribution of phenylketonuric mutations in Orientals. Hum Mutat 1:216-220
9. Okano Y, Hase Y, Lee DH, Takada G, Shigematsu Y, Oura T, Isshiki G (1994) Molecular and population genetics of phenylketonuria in Orientals: correlation between phenotype and genotype. J Inherit Metab Dis 17:156-159
10. Okano Y, Asada M, Kang Y, Nishi Y, Hase Y, Oura T, Isshiki G (1998) Molecular characterization of phenylketonuria in Japanese patients. Hum Genet 103:613-618
11. Park YS, Seoung CS, Lee SW, Oh KH, Lee DH, Yim J (1998) Identification of three novel mutations in Korean phenylketonuria patients: R53H, N207D, and Y325X. Hum Mutat Suppl 1:S121-S122
12. Pey AL, Desviat LR, Gamez A, Ugarte M, Perez B (2003) Phenylketonuria: genotype-phenotype correlations based on expression analysis of structural and functional mutations in PAH. Hum Mutat 21:370-378
13. Scriver CR, Hurtubise M, Konecki D, Phommarinh M, Prevost L, Erlandsen H, Stevens R, Waters PJ, Ryan S, McDonald D, Sarkissian C (2003) PAHdb 2003: what a locus-specific knowledgebase can do? Hum Mutat 21:333-344
14. Song F, Jin YW, Wang H, Yang YL, Zhang YM, Zhang T (2003) Ten novel mutations in the phenylalanine hydroxylase gene identified in Chinese patients with phenylketonuria. Zhongguo Yi Xue Ke Xue Yuan Xue Bao 25:142-144
15. Zschocke J (2003) Phenylketonuria mutations in Europe. Hum Mutat 21:345-356