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Article

Molecular genetics of tetrahydrobiopterin deficiency in Chinese patients.

Journal of pediatric endocrinology & metabolism : JPEM - 28 Aug 2018

Li Nana, Yu Ping, Rao Bin, Deng Ying, Guo Yixiong, Huang Yushan, Ding Lijie, Zhu Jun, Yang Huanming, Wang Jian, Guo Jian, Chen Fang, Liu Zhen

Abstract excerpt

Background The overall incidence of hyperphenylalaninemia (HPA) in China is 1:11,763, with tetrahydrobiopterin (BH4) deficiency accounting for 8.55% of patients with HPA in the mainland. Much progress has been made in the diagnosis and treatment of BH4 deficiency with the introduction of neonatal screening in China. However, the screening rate is still low and screening is not universally available. Methods A...

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Source

Identifiers

PMID: 30001213
DOI: 10.1515/jpem-2018-0037

Genes

PTS
QDPR
GCH1
PCBD1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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