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Ann Transl Med. 2019 Jun;7(12):258. doi: 10.21037/atm.2019.05.16.

The molecular epidemiology of hyperphenylalaninemia in Uygur population: incidence from newborn screening and mutational spectra.

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Department of Neonatology, People's Hospital of Xinjiang Uygur Autonomous Region, Urumqi 830001, China.
Shanghai Key Laboratory of Birth Defects, Children's Hospital of Fudan University, Shanghai 201102, China.
Key Laboratory of Neonatal Diseases, Ministry of Health, Shanghai 201102, China.



Neonatal hyperphenylalaninemia (HPA) screening did not begin until 2009 in the Uygur population because of poor medical and economic conditions. This study intended to investigate HPA incidence rate and characterize mutation spectrum of phenylalanine hydroxylase (PAH) gene within the Uygur population.


Cross-sectional data of National Direct Reporting System database from 2009 to 2016 were used to calculate incidence rate. All HPA positive newborns were diagnosed and confirmed by Sanger sequencing. A low Phe diet was implemented.


A total of 580,608 Uygur neonates were screened, 111 were diagnosed with HPA with an incidence rate of 1:5,230, 58 different mutations in PAH gene were detected. Eight novel variants were found, including two nonsense mutations (L11*, L197*), two splicing mutations (IVS12-2A > C, IVS13-1G > A), one frameshift mutation (K115 > Hfs) and three missense mutations (E368K, E370G, D435V), distributing in twenty patients. A104D was the most frequent mutation in this study, and the other hot spot of R413P was found in 4 patients in a same Uygur village with a carrier rate of 1:2.1.


This is the first study to investigate HPA incidence rate in the Uygur population. Our study highlights regional differences in PAH genotypes and mutation rates.


Phenylalanine hydroxylase (PAH); Uygur; gene mutation; genotyping; neonatal screening

Conflict of interest statement

Conflicts of Interest: The authors have no conflicts of interest to declare.

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