Frontiers in Genetics (Jan 2020)
A 7-Year Report of Spectrum of Inborn Errors of Metabolism on Full-Term and Premature Infants in a Chinese Neonatal Intensive Care Unit
- Wanqiao Zhang,
- Wanqiao Zhang,
- Wanqiao Zhang,
- Yao Yang,
- Yao Yang,
- Yao Yang,
- Wei Peng,
- Wei Peng,
- Wei Peng,
- Juan Chang,
- Juan Chang,
- Juan Chang,
- Yabo Mei,
- Yabo Mei,
- Yabo Mei,
- Lei Yan,
- Lei Yan,
- Lei Yan,
- Yuhan Chen,
- Yuhan Chen,
- Yuhan Chen,
- Xiujuan Wei,
- Xiujuan Wei,
- Xiujuan Wei,
- Yabin Liu,
- Yabin Liu,
- Yabin Liu,
- Yan Wang,
- Yan Wang,
- Yan Wang,
- Zhichun Feng,
- Zhichun Feng,
- Zhichun Feng
Affiliations
- Wanqiao Zhang
- BaYi Children’s Hospital, Seventh Medical Center of PLA General Hospital, Beijing, China
- Wanqiao Zhang
- National Engineering Laboratory for Birth Defects Prevention and Control of Key Technology, Beijing, China
- Wanqiao Zhang
- Beijing Key Laboratory of Pediatric Organ Failure, Beijing, China
- Yao Yang
- BaYi Children’s Hospital, Seventh Medical Center of PLA General Hospital, Beijing, China
- Yao Yang
- National Engineering Laboratory for Birth Defects Prevention and Control of Key Technology, Beijing, China
- Yao Yang
- Beijing Key Laboratory of Pediatric Organ Failure, Beijing, China
- Wei Peng
- BaYi Children’s Hospital, Seventh Medical Center of PLA General Hospital, Beijing, China
- Wei Peng
- National Engineering Laboratory for Birth Defects Prevention and Control of Key Technology, Beijing, China
- Wei Peng
- Beijing Key Laboratory of Pediatric Organ Failure, Beijing, China
- Juan Chang
- BaYi Children’s Hospital, Seventh Medical Center of PLA General Hospital, Beijing, China
- Juan Chang
- National Engineering Laboratory for Birth Defects Prevention and Control of Key Technology, Beijing, China
- Juan Chang
- Beijing Key Laboratory of Pediatric Organ Failure, Beijing, China
- Yabo Mei
- BaYi Children’s Hospital, Seventh Medical Center of PLA General Hospital, Beijing, China
- Yabo Mei
- National Engineering Laboratory for Birth Defects Prevention and Control of Key Technology, Beijing, China
- Yabo Mei
- Beijing Key Laboratory of Pediatric Organ Failure, Beijing, China
- Lei Yan
- BaYi Children’s Hospital, Seventh Medical Center of PLA General Hospital, Beijing, China
- Lei Yan
- National Engineering Laboratory for Birth Defects Prevention and Control of Key Technology, Beijing, China
- Lei Yan
- Beijing Key Laboratory of Pediatric Organ Failure, Beijing, China
- Yuhan Chen
- BaYi Children’s Hospital, Seventh Medical Center of PLA General Hospital, Beijing, China
- Yuhan Chen
- National Engineering Laboratory for Birth Defects Prevention and Control of Key Technology, Beijing, China
- Yuhan Chen
- Beijing Key Laboratory of Pediatric Organ Failure, Beijing, China
- Xiujuan Wei
- BaYi Children’s Hospital, Seventh Medical Center of PLA General Hospital, Beijing, China
- Xiujuan Wei
- National Engineering Laboratory for Birth Defects Prevention and Control of Key Technology, Beijing, China
- Xiujuan Wei
- Beijing Key Laboratory of Pediatric Organ Failure, Beijing, China
- Yabin Liu
- BaYi Children’s Hospital, Seventh Medical Center of PLA General Hospital, Beijing, China
- Yabin Liu
- National Engineering Laboratory for Birth Defects Prevention and Control of Key Technology, Beijing, China
- Yabin Liu
- Beijing Key Laboratory of Pediatric Organ Failure, Beijing, China
- Yan Wang
- BaYi Children’s Hospital, Seventh Medical Center of PLA General Hospital, Beijing, China
- Yan Wang
- National Engineering Laboratory for Birth Defects Prevention and Control of Key Technology, Beijing, China
- Yan Wang
- Beijing Key Laboratory of Pediatric Organ Failure, Beijing, China
- Zhichun Feng
- BaYi Children’s Hospital, Seventh Medical Center of PLA General Hospital, Beijing, China
- Zhichun Feng
- National Engineering Laboratory for Birth Defects Prevention and Control of Key Technology, Beijing, China
- Zhichun Feng
- Beijing Key Laboratory of Pediatric Organ Failure, Beijing, China
- DOI
- https://doi.org/10.3389/fgene.2019.01302
- Journal volume & issue
-
Vol. 10
Abstract
Inborn errors of metabolism (IEMs) have great repercussions in neonatal intensive care units (NICUs). However, the integrative analysis of the incidence for full-term and premature neonates of IEMs in NICUs have not been reported. In this study, we aimed to estimate the incidence of IEMs in the NICU population so as to better evaluate the impact of IEMs on Chinese NICUs. A total of 42,257 newborns (proportion of premature as 36.7%) enrolled to the largest Chinese NICU center for a sequential 7 years screen, and 66 were diagnosed with IEMs. The prevalence of IEMs in total, full-term, and premature infants was 1:640, 1:446, and 1:2,584, respectively. In spectrum of our NICU, diseases that cause endogenous intoxication like methylmalonic acidemia accounted for 93.9% (62/66), and this ratio was higher in full-term infants with 98.3% (59/60), while the most prevalent disease in premature newborn was hyperphenylalaninemia (50%, 3/6), respectively. The genetic analysis of 49 cases revealed 62 potentially pathogenic mutations in 10 well-documented pathogenic genes of IEMs, among which 21 were novel. In conclusion, differences in incidence and spectrum of full-term and premature births we obtained in NICU will provide diagnostic guidelines and therapeutic clues of neonatal IEMs for pediatricians.
Keywords
- newborn screening
- neonatal intensive care unit
- inborn errors of metabolism
- incidence of inborn errors of metabolism
- spectrum of genes and mutations
