ArticleBMJ open2019
Phenylketonuria incidence in China between 2013 and 2017 based on data from the Chinese newborn screening information system: a descriptive study.
Article in BMJ open, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 24 papers, 1 of them a synthesis that pooled it.
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24 citing papers in PubMed, 1 synthesis or guideline pooled it, 39 citations in OpenAlex.
- Increased incidence of congenital hypothyroidism in China: An analysis of 119 million screened newborns.European journal of pediatrics · 2023Pooled it
- Progress and Prospects of Newborn Screening in China.International journal of neonatal screening · 2026Review
- Clinical application value of preconception and prenatal carrier screening in Yinchuan.Frontiers in genetics · 2026Article
- Genetic diagnosis and molecular characterization of three novel variations in the phenylalanine hydroxylase gene from Chinese patients with phenylketonuria.EXCLI journal · 2026Article
- The incidence rate and gene mutation characteristics of hyperphenylalaninemia in Yunnan Province, Southwest China.Orphanet journal of rare diseases · 2025Article
- [Genetic profiling and intervention strategies for phenylketonuria in Gansu, China: an analysis of 1 159 cases].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2025Article
- Phenotypic study of humanized mice carrying the PAH deep intronic variant c.1199+502A>T.Orphanet journal of rare diseases · 2025Article
- Preimplantation genetic testing for inborn errors of metabolism: observations from a reproductive genetic laboratory in China.Journal of human genetics · 2025Article
- Expanded newborn screening for inborn errors of metabolism and genetic variants in Xinjiang, China.Frontiers in genetics · 2025Article
- Impact of a mobile health intervention on health management among children with phenylketonuria based on a multi-theory model of the behavior change wheel theory and family health theory: protocol for a randomized controlled trial.Frontiers in psychiatry · 2025Article
- Epidemiology and distribution of 207 rare diseases in China: A systematic literature review.Intractable & rare diseases research · 2024Review
- Application of targeted high-throughput sequencing as a diagnostic tool for neonatal genetic metabolic diseases following tandem mass spectrometry screening.Frontiers in public health · 2024Article
- Neurological and imaging phenotypes of adults with untreated phenylketonuria: new cases and literature review.Journal of neurology · 2023Review
- Diagnosis, treatment, and research status of rare diseases related to birth defects.Intractable & rare diseases research · 2023Review
- A multicenter prospective study of next-generation sequencing-based newborn screening for monogenic genetic diseases in China.World journal of pediatrics : WJP · 2023Article
- The spectrum of phenylalanine hydroxylase variants and genotype-phenotype correlation in phenylketonuria patients in Gansu, China.Human genomics · 2023Article
- Screening and mutation analysis of phenylalanine hydroxylase deficiency in newborns from Jiangxi province.Frontiers in genetics · 2023Article
- Identification of phenylketonuria patient genotypes using single-gene full-length sequencing.Human genomics · 2022Article
- Genetic etiology and clinical challenges of phenylketonuria.Human genomics · 2022Review
- Comprehensive analysis of recessive carrier status using exome and genome sequencing data in 1543 Southern Chinese.NPJ genomic medicine · 2022Article
Corrections and comments
- Erratum issuedCorrection:2020
Authors and funding
12 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectiveThis study examines the incidence and spatial clustering of phenylketonuria (PKU) in China between 2013 and 2017.
methodsData from the Chinese Newborn Screening Information System were analysed to assess PKU incidence with 95% CIs by province, region and disease severity. Spatial clustering of PKU cases was analysed using global and local spatial autocorrelation analysis in the geographic information system.
resultsThe database contained 4925 neonates with confirmed PKU during the study period, corresponding to an incidence of 6.28 (95% CI: 6.11 to 6.46) per 100 000 neonates screened. Incidence was highest in the provinces of Gansu, Ningxia and Qinghai, where it ranged from 19.00 to 28.63 per 100 000 neonates screened. Overall incidence was higher in the northern part of the country, where classical disease predominated, than in the southern part, where mild disease predominated. PKU cases clustered spatially (global Moran's I=0.3603,
conclusionsChina shows an intermediate PKU incidence among countries, and incidence differs substantially among Chinese provinces and between northern and southern regions. Our results suggest the need to focus efforts on screening, diagnosing and treating PKU in high-incidence provinces.
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