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; Yao Yang; Wei Peng; Juan Chang; Yabo Mei; Lei Yan; Yuhan Chen; Xiujuan Wei; Yabin Liu; Yan Wang; Zhichun Feng

doi:10.3389/fgene.2019.01302

A 7-Year Report of Spectrum of Inborn Errors of Metabolism on Full-Term and Premature Infants in a Chinese Neonatal Intensive Care Unit

Front Genet. 2020 Jan 10:10:1302. doi: 10.3389/fgene.2019.01302. eCollection 2019.

Authors

Wanqiao Zhang^{1

2

3}, Yao Yang^{1

2

3}, Wei Peng^{1

2

3}, Juan Chang^{1

2

3}, Yabo Mei^{1

2

3}, Lei Yan^{1

2

3}, Yuhan Chen^{1

2

3}, Xiujuan Wei^{1

2

3}, Yabin Liu^{1

2

3}, Yan Wang^{1

2

3}, Zhichun Feng^{1

2

3}

Affiliations

¹ BaYi Children's Hospital, Seventh Medical Center of PLA General Hospital, Beijing, China.
² National Engineering Laboratory for Birth Defects Prevention and Control of Key Technology, Beijing, China.
³ Beijing Key Laboratory of Pediatric Organ Failure, Beijing, China.

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: inborn errors of metabolism; incidence of inborn errors of metabolism; neonatal intensive care unit; newborn screening; spectrum of genes and mutations.