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Article

Genetic background of hyperphenylalaninemia in Nagasaki, Japan.

Pediatrics international : official journal of the Japan Pediatric Society - 1 May 2016

Dateki Sumito, Watanabe Satoshi, Nakatomi Akiko, Kinoshita Eiichi, Matsumoto Tadashi, Yoshiura Koh-Ichiro, Moriuchi Hiroyuki

Abstract excerpt

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...

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Identifiers

PMID: 27173423
DOI: 10.1111/ped.12924

Genes

PAH

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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