title: Genetic background of hyperphenylalaninemia in Nagasaki, Japan.
abstract: Phenylketonuria (PKU) and related hyperphenylalaninemia (HPA) are caused by a deficiency in hepatic phenylalanine hydroxylase (PAH). The incidence of PKU in Nagasaki prefecture is higher than that in all parts of Japan (1/15 894 vs 1/120 000). To investigate the genetic background of patients with HPA in Nagasaki prefecture, mutation analysis was done in 14 patients with PKU or mild HPA. Homozygous or compound heterozygous PAH mutations were identified in all the patients. The spectrum of PAH mutations in the cohort was broad and similar to those in all parts of Japan and East Asian countries. R53H is the most common mutation in patients with mild HPA. The present results provide further support for genotype-phenotype correlations in patients with HPA. The high incidence of PKU in Nagasaki, the westernmost part of Japan, might be due to migration of people with PAH mutations from China and Korea, and geographic factors.
authors.affiliation: Department of Pediatrics, Nagasaki University Hospital, Nagasaki, Japan.
authors.forename: Sumito
authors.initials: S
authors.lastname: Dateki
authors.affiliation: Department of Pediatrics, Nagasaki University Hospital, Nagasaki, Japan.|Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan.
authors.forename: Satoshi
authors.initials: S
authors.lastname: Watanabe
authors.affiliation: Department of Pediatrics, Nagasaki University Hospital, Nagasaki, Japan.
authors.forename: Akiko
authors.initials: A
authors.lastname: Nakatomi
authors.affiliation: Kinoshita Children's Clinic, Nagasaki, Japan.
authors.forename: Eiichi
authors.initials: E
authors.lastname: Kinoshita
authors.affiliation: Division of Developmental Disabilities, Misakaenosono Mutsumi Developmental, Medical and Welfare Center, Isahaya, Japan.
authors.forename: Tadashi
authors.initials: T
authors.lastname: Matsumoto
authors.affiliation: Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan.
authors.forename: Koh-Ichiro
authors.initials: K
authors.lastname: Yoshiura
authors.affiliation: Department of Pediatrics, Nagasaki University Hospital, Nagasaki, Japan.
authors.forename: Hiroyuki
authors.initials: H
authors.lastname: Moriuchi
mesh_terms: D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D005260:Female; D000068617:Genetic Background; D005819:Genetic Markers; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D015994:Incidence; D007223:Infant; D007231:Infant, Newborn; D007564:Japan / Q000453:epidemiology; D008297:Male; D009154:Mutation; D010641:Phenotype; D010651:Phenylalanine Hydroxylase / Q000235:genetics*; D010661:Phenylketonurias / Q000201:enzymology / Q000453:epidemiology / Q000235:genetics*; D055815:Young Adult
chemical_list: D005819:Genetic Markers; D010651:Phenylalanine Hydroxylase
keywords: Nagasaki prefecture; hyperphenylalaninemia; phenylalanine hydroxylase; phenylketonuria; tetrahydrobiopterin