Screening for neonatal inherited metabolic disorders by tandem mass spectrometry in Guangzhou

Tang, Chengfang; Ming, Tan; Xie, Ting; Tang, Furong; Liu, Sichi; Wei, Qingxiu; Liu, Jilian; Huang, Yanjuan

doi:10.3724/zdxbyxb-2021-0260

Cited by 9 publications

(9 citation statements)

References 13 publications

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“…In our study, MS/MS combined with massively parallel sequencing was used to detect 27 genetic metabolic diseases in newborns, including AAMD, (Shi et al, 2012) and other Asian countries, such as Singapore (1/3165) (Lim et al, 2014), Malaysia (1/2916) (Yunus et al, 2016), South Korea (1/2828) (Yoon et al, 2005), and other countries outside Asia, such as Australia (1/2700) (Estrella et al, 2014) and the USA (1/4300) (Frazier et al, 2006). Furthermore, in many cities and areas of large-scale sample research in China, the overall incidence of IEM is relatively lower than ours, for example, −1/2763 in Jiangsu province (Yang et al, 2019), 1/3444 in Guangzhou (Tang et al, 2021), 1/7030 in Taiwan (Shibata et al, 2018), 1/3163 in Suzhou (Wang et al, 2019), and 1/2804 in Quanzhou (Lin et al, 2019). These results indicate that the overall incidence of IEM in eastern coastal areas of China is greater than that in many regions.…”

Section: Discussioncontrasting

confidence: 55%

Incidence and genetic variants of inborn errors of metabolism identified through newborn screening: A 7‐year study in eastern coastal areas of China

Men

Liu

Zheng

et al. 2023

Molec Gen & Gen Med

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Background The incidence of inborn errors of metabolism (IEM) varies across countries and areas. Currently, there are no studies on IEM using newborn screening (NBS) in eastern coastal areas of China. We aimed to estimate the incidence and genetic variants of IEM and understand the spectrum of diseases caused by IEM and variants among them in this area. Methods The NBS performed by tandem mass spectrometry (MS/MS) from 2016 to 2021 was retrospectively reviewed. Heel blood was collected from all newborns 72 h after birth. Targeted massively parallel sequencing was performed for genetic analysis. Results Among 245,194 newborns, 95 were diagnosed with IEM, the overall incidence observed was—IEM: 1/2581; amino acid metabolism disorder: 1/4715; organic acid metabolism disorder: 1/11676; and fatty acid metabolism disorder: 1/11145. The incidence of different IEM was in the range of 1/245194 to 1/6452. Phenylketonuria (PKU, 1/7211) was the most common IEM, followed by methylmalonic acidemia (MMA, 1/27244), short‐chain acyl‐CoA dehydrogenase deficiency (SCADD, 1/30649), and citrin deficiency (CD, 1/35028). For genetic variants, the common hotspot variants found were—PAH gene for PKU: c.728G > A, c.442‐1G > A, c.611A > G, c.721C > T; PTS gene for non‐classical PKU: c.259C > T; MMACHC gene for MMA: c.658_660delAAG, c.609G > A; MMUT gene for MMA: c.1663G > A; ACADS gene for SCADD: c.1031A > G and c.1130C > T; and SLC25A13 gene for CD: c.1638_1660dup, c.852_855del. Conclusion This study displayed the diseases and varied spectrum of IEM in eastern coastal areas of China. Implementing NBS for IEM by MS/MS combined with massively parallel sequencing can offer an improved plan for NBS to detect IEM.

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Section: Discussioncontrasting

confidence: 55%

Incidence and genetic variants of inborn errors of metabolism identified through newborn screening: A 7‐year study in eastern coastal areas of China

Men

Liu

Zheng

et al. 2023

Molec Gen & Gen Med

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“…The incidence rate of amino acid disorders in our study was lower (1/8,257) than that in Germany (26.3/100,000), the United Kingdom (26.7/100,000), and China (17.1/100,000) (Sanderson et al, 2006; and was even lower than that in neighboring Guangzhou (1/11,831) (Tang et al, 2021). Four amino acid disorders types were detected in our study, and PAHD accounted for the highest proportion of amino acid metabolic diseases.…”

Section: Discussioncontrasting

confidence: 69%

Insights in Genetics of Common and Rare Diseases: 2022

2024

Frontiers Research Topics

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Frontiers is more than just an open access publisher of scholarly articles: it is a pioneering approach to the world of academia, radically improving the way scholarly research is managed. The grand vision of Frontiers is a world where all people have an equal opportunity to seek, share and generate knowledge. Frontiers provides immediate and permanent online open access to all its publications, but this alone is not enough to realize our grand goals. Frontiers journal seriesThe Frontiers journal series is a multi-tier and interdisciplinary set of openaccess, online journals, promising a paradigm shift from the current review, selection and dissemination processes in academic publishing. All Frontiers journals are driven by researchers for researchers; therefore, they constitute a service to the scholarly community. At the same time, the Frontiers journal series operates on a revolutionary invention, the tiered publishing system, initially addressing specific communities of scholars, and gradually climbing up to broader public understanding, thus serving the interests of the lay society, too. Dedication to qualityEach Frontiers article is a landmark of the highest quality, thanks to genuinely collaborative interactions between authors and review editors, who include some of the world's best academicians. Research must be certified by peers before entering a stream of knowledge that may eventually reach the public -and shape society; therefore, Frontiers only applies the most rigorous and unbiased reviews. Frontiers revolutionizes research publishing by freely delivering the most outstanding research, evaluated with no bias from both the academic and social point of view. By applying the most advanced information technologies, Frontiers is catapulting scholarly publishing into a new generation. What are Frontiers Research Topics?Frontiers Research Topics are very popular trademarks of the Frontiers journals series: they are collections of at least ten articles, all centered on a particular subject. With their unique mix of varied contributions from Original Research to Review Articles, Frontiers Research Topics unify the most influential researchers, the latest key findings and historical advances in a hot research area.

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“…BKD was first described in 1971 and is encoded by ACAT1 presenting as severe metabolic acidosis, hypoglycemia, ketonuria, and abnormal liver function ( Mrázová et al, 2005 ; Grünert et al, 2017 ; Fukao et al, 2019 ). However, BKD is rare, as reported for Tunisia ( Monastiri et al, 1999 ) and China (1:136,059-1:2,366,555) ( Deng et al, 2021 ; Tang et al, 2021 ). In the current study, one case of BKD was detected in a Miao patient with an incidence rate of 1:206,977, which is slightly higher than the average incidence.…”

Section: Discussionmentioning

confidence: 90%

206,977 newborn screening results reveal the ethnic differences in the spectrum of inborn errors of metabolism in Huaihua, China

Xiao,

Feng,

et al. 2024

Front. Genet.

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BackgroundInborn errors of metabolism (IEMs) are rare diseases caused by inherited defects in various biochemical pathways that strongly correlate with early neonatal mortality and stunting. Currently, no studies have reported on the incidence of IEMs of multi-ethnic groups in Huaihua, China.MethodsA total of 206,977 neonates with self-reported ethnicity who underwent IEM screening at Huaihua from 2015 to 2021 were selected for observation. Among them, 69 suspected IEM-positive neonates were referred for urine gas chromatography-mass spectrometry analysis, biochemical detection, next-generation sequencing, and Sanger sequencing.ResultsSixty-nine newborns were diagnosed with IEMs, with an overall incidence of 1:3,000. The two most common disorders were 2-methylbutyryl glycinuria (1:7,137) and phenylalanine hydroxylase deficiency (1:22,997). Moreover, the incidence of IEMs in the minority ethnic group (Miao, Dong, Tujia and Yao) (1:1,852) was markedly higher than in the Han ethnic group (1:4,741). Some ethnic features variants were identified; NM_001609.4:c.1165A>G in the ACADSB gene for Miao and Dong ethnic groups, NM_014251.2:c.852_855del in the SLC25A13 gene for Miao ethnic groups.ConclusionThis study revealed the IEM incidence within the minority ethnic groups is markedly higher than among the Han nationality and the gene variant spectrum is dramatically different in Huaihua, China. Hence, It serves as a theoretical reference for the screening and diagnosing of neonatal IEMs of multi-ethnic groups in the Huaihua area, and across China.

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Screening for neonatal inherited metabolic disorders by tandem mass spectrometry in Guangzhou

Cited by 9 publications

References 13 publications

Incidence and genetic variants of inborn errors of metabolism identified through newborn screening: A 7‐year study in eastern coastal areas of China

Incidence and genetic variants of inborn errors of metabolism identified through newborn screening: A 7‐year study in eastern coastal areas of China

Insights in Genetics of Common and Rare Diseases: 2022

206,977 newborn screening results reveal the ethnic differences in the spectrum of inborn errors of metabolism in Huaihua, China

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