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Genetic background of hyperphenylalaninemia in Nagasaki , Japan
Author(s) -
Dateki Sumito,
Watanabe Satoshi,
Nakatomi Akiko,
Kinoshita Eiichi,
Matsumoto Tadashi,
Yoshiura Kohichiro,
Moriuchi Hiroyuki
Publication year - 2016
Publication title -
pediatrics international
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.49
H-Index - 63
eISSN - 1442-200X
pISSN - 1328-8067
DOI - 10.1111/ped.12924
Subject(s) - hyperphenylalaninemia , medicine , incidence (geometry) , mutation , phenylalanine hydroxylase , compound heterozygosity , pediatrics , genetics , gene , phenylalanine , biology , physics , amino acid , optics
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.