Laboratory Screening and Genetic Diagnosis Analysis of Patients with Neonatal Glutaric Acidemia Type Ⅱ in Quanzhou,Fujian Province
10.3969/j.issn.1671-7414.2024.06.032
- VernacularTitle:福建泉州地区新生儿戊二酸血症Ⅱ型患者的实验室筛查和基因诊断分析
- Author:
Chunmei LIN
1
;
Weilin PENG
;
Yiming LIN
Author Information
1. 泉州市妇幼保健院/儿童医院检验科,福建 泉州 362000
- Keywords:
glutaric acidemia type Ⅱ;
neonatal screening;
tandem mass spectrometry;
electrontransfer flovoprotein dehydrogenase gene
- From:
Journal of Modern Laboratory Medicine
2024;39(6):185-188,228
- CountryChina
- Language:Chinese
-
Abstract:
Objective To investigate the incidence,biochemical manifestations and genetic mutation features of glutaric acidemia type Ⅱ(GA-Ⅱ)in newborns in Quanzhou,Fujian province.Methods From January 2014 to December 2022,a total of 643 606 newborns were screened for inherited metabolic diseases by tandem mass spectrometry in the Quanzhou area.Suspected positive newborns with multiple acylcarnitine elevations were diagnosed by the MassARRAY assay and high-throughput sequencing technology.Results A total of 247 newborns showed multiple acylcarnitine elevations during the study period,and 19 newborns were diagnosed with GA-Ⅱ by genetic diagnosis.In addition,one newborn showed elevated levels of isovalerylcarnitine(C5),and was suspected to be isovaleric acidemia,which was confirmed with GA-Ⅱ by genetic diagnosis.Twenty newborns were eventually diagnosed with GA-Ⅱ,and the incidence of GA-Ⅱ in the study population was 1:32 180.Newborn screening results showed the concentrations of octanoylcarnitine(C8),decanoylcarnitine(C10)and dodecanylcarnitine(C12)were higher than the upper limit of the reference range,which were key indicators for screening GA-Ⅱ.Ten distinct electrontransfer flavoprotein dehydrogenase ETFDH gene mutations were found in patients with GA-Ⅱ,most of which were missense mutations.The most common ETFDH mutation was C.250G>A(p.A84T)with an allele frequency of 47.5％,followed by C.524G>A(R175H),C.998A>G(p.Y333C)and C.1657T>C(p.Y553H).Conclusion Newborn screening is an important approach for early detection of GA-Ⅱ,but patients with GA-Ⅱ may have atypical biochemical changes,and all newborns with abnormal newborn screening results should be subjected to high-throughput sequencing for genetic diagnosis.
