A 7-Year Report of Spectrum of Inborn Errors of Metabolism on Full-Term and Premature Infants in a Chinese Neonatal Intensive Care Unit
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...
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Frontiers Media S.A.
2020-01-01
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| Series: | Frontiers in Genetics |
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| Online Access: | https://www.frontiersin.org/article/10.3389/fgene.2019.01302/full |
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Article |
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DOAJ |
| language |
English |
| format |
Article |
| sources |
DOAJ |
| author |
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 |
| spellingShingle |
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 A 7-Year Report of Spectrum of Inborn Errors of Metabolism on Full-Term and Premature Infants in a Chinese Neonatal Intensive Care Unit Frontiers in Genetics newborn screening neonatal intensive care unit inborn errors of metabolism incidence of inborn errors of metabolism spectrum of genes and mutations |
| author_facet |
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 |
| author_sort |
Wanqiao Zhang |
| title |
A 7-Year Report of Spectrum of Inborn Errors of Metabolism on Full-Term and Premature Infants in a Chinese Neonatal Intensive Care Unit |
| title_short |
A 7-Year Report of Spectrum of Inborn Errors of Metabolism on Full-Term and Premature Infants in a Chinese Neonatal Intensive Care Unit |
| title_full |
A 7-Year Report of Spectrum of Inborn Errors of Metabolism on Full-Term and Premature Infants in a Chinese Neonatal Intensive Care Unit |
| title_fullStr |
A 7-Year Report of Spectrum of Inborn Errors of Metabolism on Full-Term and Premature Infants in a Chinese Neonatal Intensive Care Unit |
| title_full_unstemmed |
A 7-Year Report of Spectrum of Inborn Errors of Metabolism on Full-Term and Premature Infants in a Chinese Neonatal Intensive Care Unit |
| title_sort |
7-year report of spectrum of inborn errors of metabolism on full-term and premature infants in a chinese neonatal intensive care unit |
| publisher |
Frontiers Media S.A. |
| series |
Frontiers in Genetics |
| issn |
1664-8021 |
| publishDate |
2020-01-01 |
| description |
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. |
| topic |
newborn screening neonatal intensive care unit inborn errors of metabolism incidence of inborn errors of metabolism spectrum of genes and mutations |
| url |
https://www.frontiersin.org/article/10.3389/fgene.2019.01302/full |
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doaj-888d9e5b3f7a443a8940a6a11741ed7b2020-11-25T02:44:55ZengFrontiers Media S.A.Frontiers in Genetics1664-80212020-01-011010.3389/fgene.2019.01302460730A 7-Year Report of Spectrum of Inborn Errors of Metabolism on Full-Term and Premature Infants in a Chinese Neonatal Intensive Care UnitWanqiao Zhang0Wanqiao Zhang1Wanqiao Zhang2Yao Yang3Yao Yang4Yao Yang5Wei Peng6Wei Peng7Wei Peng8Juan Chang9Juan Chang10Juan Chang11Yabo Mei12Yabo Mei13Yabo Mei14Lei Yan15Lei Yan16Lei Yan17Yuhan Chen18Yuhan Chen19Yuhan Chen20Xiujuan Wei21Xiujuan Wei22Xiujuan Wei23Yabin Liu24Yabin Liu25Yabin Liu26Yan Wang27Yan Wang28Yan Wang29Zhichun Feng30Zhichun Feng31Zhichun Feng32BaYi Children’s Hospital, Seventh Medical Center of PLA General Hospital, Beijing, ChinaNational Engineering Laboratory for Birth Defects Prevention and Control of Key Technology, Beijing, ChinaBeijing Key Laboratory of Pediatric Organ Failure, Beijing, ChinaBaYi Children’s Hospital, Seventh Medical Center of PLA General Hospital, Beijing, ChinaNational Engineering Laboratory for Birth Defects Prevention and Control of Key Technology, Beijing, ChinaBeijing Key Laboratory of Pediatric Organ Failure, Beijing, ChinaBaYi Children’s Hospital, Seventh Medical Center of PLA General Hospital, Beijing, ChinaNational Engineering Laboratory for Birth Defects Prevention and Control of Key Technology, Beijing, ChinaBeijing Key Laboratory of Pediatric Organ Failure, Beijing, ChinaBaYi Children’s Hospital, Seventh Medical Center of PLA General Hospital, Beijing, ChinaNational Engineering Laboratory for Birth Defects Prevention and Control of Key Technology, Beijing, ChinaBeijing Key Laboratory of Pediatric Organ Failure, Beijing, ChinaBaYi Children’s Hospital, Seventh Medical Center of PLA General Hospital, Beijing, ChinaNational Engineering Laboratory for Birth Defects Prevention and Control of Key Technology, Beijing, ChinaBeijing Key Laboratory of Pediatric Organ Failure, Beijing, ChinaBaYi Children’s Hospital, Seventh Medical Center of PLA General Hospital, Beijing, ChinaNational Engineering Laboratory for Birth Defects Prevention and Control of Key Technology, Beijing, ChinaBeijing Key Laboratory of Pediatric Organ Failure, Beijing, ChinaBaYi Children’s Hospital, Seventh Medical Center of PLA General Hospital, Beijing, ChinaNational Engineering Laboratory for Birth Defects Prevention and Control of Key Technology, Beijing, ChinaBeijing Key Laboratory of Pediatric Organ Failure, Beijing, ChinaBaYi Children’s Hospital, Seventh Medical Center of PLA General Hospital, Beijing, ChinaNational Engineering Laboratory for Birth Defects Prevention and Control of Key Technology, Beijing, ChinaBeijing Key Laboratory of Pediatric Organ Failure, Beijing, ChinaBaYi Children’s Hospital, Seventh Medical Center of PLA General Hospital, Beijing, ChinaNational Engineering Laboratory for Birth Defects Prevention and Control of Key Technology, Beijing, ChinaBeijing Key Laboratory of Pediatric Organ Failure, Beijing, ChinaBaYi Children’s Hospital, Seventh Medical Center of PLA General Hospital, Beijing, ChinaNational Engineering Laboratory for Birth Defects Prevention and Control of Key Technology, Beijing, ChinaBeijing Key Laboratory of Pediatric Organ Failure, Beijing, ChinaBaYi Children’s Hospital, Seventh Medical Center of PLA General Hospital, Beijing, ChinaNational Engineering Laboratory for Birth Defects Prevention and Control of Key Technology, Beijing, ChinaBeijing Key Laboratory of Pediatric Organ Failure, Beijing, ChinaInborn 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.https://www.frontiersin.org/article/10.3389/fgene.2019.01302/fullnewborn screeningneonatal intensive care unitinborn errors of metabolismincidence of inborn errors of metabolismspectrum of genes and mutations |