Screening for hyperphenylalaninemia and pathogenic gene characteristics in Yangzhou area
- VernacularTitle:扬州地区高苯丙氨酸血症筛查及致病基因特征研究
- Author:
Qiu CHEN
1
;
Po ZHANG
;
Suwei HU
;
Xinping WU
;
Yuepeng JIANG
Author Information
- Keywords: hyperphenylalaninemia; phenylketonuria; tetrahydrobiopterin deficiency; gene mutation; phenylalanine; newborn
- From: Journal of Clinical Medicine in Practice 2024;28(20):124-127,137
- CountryChina
- Language:Chinese
- Abstract: Objective To investigate the incidence of neonatal hyperphenylalaninemia(HPA)and analyze the characteristics of HPA gene mutations in the Yangzhou area.Methods From Janu-ary 2013 to December 2022,285,549 newborns in Yangzhou were screened for HPA using either the ninhydrin fluorescence method or tandem mass spectrometry.Urinary pterin analysis,erythrocyte di-hydrobiopterin reductase activity measurement and genetic diagnosis were performed to screen positive individuals.Results A total of 29 cases were confirmed as HPA,including 3 cases of tetrahydro-biopterin(BH4)deficiency and 26 cases of phenylalanine hydroxylase(PAH)deficiency.The over-all incidence of HPA in Yangzhou was 1/9,847,with the incidence of PAH deficiency being 1/10,983,which were slightly higher than the national average but lower than other regions in Jiangsu Prov-ince.Among the cases,13(44.83％)were classic phenylketonuria(PKU),7(24.14％)were mild PKU,and 6(20.69％)were mild HPA.Sixteen patients with PAH gene mutations were all com-pound heterozygotes,with one case exhibiting three-site mutations.PAH gene mutations were predomi-nantly missense mutations,primarily concentrated in exon 7,followed by exon 6,with E7 c.728G＞A(21.21％)being the most frequent mutation.Three cases of BH4 deficiency were detected with PTS gene mutations,including 1 homozygous mutation and 2 compound heterozygous mutations.E5 c.259C＞T was the high-frequency PTS mutation gene in Yangzhou.Conclusion HPA has a certain incidence in Yangzhou,with classic PKU being the predominant type.This study clarified the characteristics of PAH and PTS gene mutations in Yangzhou,enriching the HPA gene database.
