Expanded newborn screening for inborn errors of metabolism by tandem mass spectrometry in newborns from Xinxiang city in China

Ma, Shujun; Guo, Qisen; Zhang, Zhongxin; He, Zhi-An; Yue, Aizhi; Song, Zhimin; Zhao, Qian; Wang, Xia; Sun, Ruili

doi:10.1002/jcla.23159

Cited by 20 publications

(14 citation statements)

References 24 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…There are no national detailed expanded NBS standards in China due to regional differences in the application of MSMS and lack of sufficient and valid studies. Some work has been done on the epidemiology, technical aspects and clinical validity of MS/MS screening in several provinces and cities in China, indicated that NGS combined with MS/MS is an enhanced plan for IEMs as well as disease spectrum and genetic characteristic of IEMs vary www.nature.com/scientificreports/ dramatically in different regions [9][10][11][12][13] . As far as we know this is the first single center report of the incidence, disease spectrum, and genetic characteristics of IEMs in a northwestern Chinese population.…”

Section: Discussionmentioning

confidence: 99%

Spectrum analysis of inborn errors of metabolism for expanded newborn screening in a northwestern Chinese population

Zhang

Qiang

Song

et al. 2021

Sci Rep

View full text Add to dashboard Cite

Expanded newborn screening facilitates early identification and intervention of patients with inborn errors of metabolism (IEMs), There is a lack of disease spectrum data for many areas in China. To determine the disease spectrum and genetic characteristics of IEMs in Xi'an city of Shaanxi province in northwest China, 146152 newborns were screening by MSMS from January 2014 to December 2019 and 61 patients were referred to genetic analysis by next generation sequencing (NGS) and validated by Sanger sequencing. Seventy-five newborns and two mothers were diagnosed with IEMs, with an overall incidence of 1:1898 (1:1949 without mothers). There were 35 newborns with amino acidemias (45.45%, 1:4176), 28 newborns with organic acidurias (36.36%, 1:5220), and 12 newborns and two mothers with FAO disorders (18.18%; 1:10439 or 1:12179 without mothers). Phenylketonuria and methylmalonic acidemia were the two most common disorders, accounting for 65.33% (49/75) of all confirmed newborn. Some hotspot mutations were observed for several IEMs, including PAH gene c.728G>A for phenylketonuria; MMACHC gene c.609G>A and c.567dupT, MMUT gene c.323G>A for methylmalonic acidemia and SLC25A13 gene c.852_855del for citrin deficiency. Our study provides effective clinical guidance for the popularization and application of expanded newborn screening, genetic screening, and genetic counseling of IEMs in this region.

show abstract

Section: Discussionmentioning

confidence: 99%

Spectrum analysis of inborn errors of metabolism for expanded newborn screening in a northwestern Chinese population

Zhang

Qiang

Song

et al. 2021

Sci Rep

View full text Add to dashboard Cite

show abstract

“…Implementation of NBS had significantly reduced morbidity and mortality of FAODs, but also identified a great number of mildly affected patients who might never had developed clinical symptoms throughout life, increasing the prevalence and the clinical heterogeneity of these defects [ 4 , 14 , 24 ]. In literature an incidence of 1:9000 newborns was described [ 14 ], even if a few recent studies have reported higher incidence [ 24 , 25 ]. This trend was confirmed by our study with 1 newborn in 4316.…”

Section: Discussionmentioning

confidence: 99%

Diagnosis, genetic characterization and clinical follow up of mitochondrial fatty acid oxidation disorders in the new era of expanded newborn screening: A single centre experience

Maguolo

Rodella

Dianin

et al. 2020

Molecular Genetics and Metabolism Reports

View full text Add to dashboard Cite

Introduction Mitochondrial fatty acid oxidation disorders (FAODs) are a heterogeneous group of hereditary autosomal recessive diseases included in newborn screening (NBS) program in Italy. The aim of this study was to analyse FAODs cases, identified either clinically or by NBS,for clinical and genetic characterization and to evaluate a five years' experience of NBS, in the attempt to figure out the complexity of genotype-phenotype correlation and to confirm the clinical impact of NBS in our centre experience. Materials and methods We analysed FAODs patients diagnosed either by NBS or clinically, followed since February 2014 to April 2019 at the Regional Screening Centre and Inherited Metabolic Diseases Unit of Verona. Diagnosis was confirmed by plasma acylcarnitines, urinary organic acids, enzymatic and genetic testing. For not clear genotypes due to the presence of variants of uncertain significance, in silico predictive tools have been used as well as enzymatic activity assays. Patients underwent clinical, nutritional and biochemical follow up. Results We diagnosed 30 patients with FAODs. 20 by NBS: 3 CUD, 6 SCADD, 5 MCADD, 4 VLCADD, 2 MADD. Overall incidence of FAODs diagnosed by NBS was 1:4316 newborns. No one reported complications during the follow up period. 10 patients were diagnosed clinically: 2 CUD, 2 CPT2D, 1 VLCADD, 5 MADD. Mean age at diagnosis was 29.3 years. Within this group, complications or symptoms were reported at diagnosis, but not during follow-up. 12 mutations not previously reported in literature were found, all predicted as pathogenic or likely pathogenic. Discussion and conclusions Our study highlighted the great phenotypic variability and molecular heterogeneity of FAODs and confirmed the importance of a tailored follow up and treatment. Despite the short duration of follow up, early identification by NBS prevented diseases related complications and resulted in normal growth and psycho-motor development as well.

show abstract

“…This vital application of CMS analysis is extremely useful, and it is continually being improved. Ma et al [49] proposed a technology for the rapid determination of an extended list of metabolic diseases in dried blood spot analysis and tested it in the analysis of more than 1000 samples. A huge number of works were devoted to the early diagnosis of cancer diseases by CMS analysis based on the metabolomics.…”

Section: Metabolic Statusmentioning

confidence: 99%

Scopes of Bioanalytical Chromatography–Mass Spectrometry

Savelieva

2021

J Anal Chem

View full text Add to dashboard Cite

The areas of application of modern bioanalytical chromatography-mass spectrometry are so extensive that any attempt to systematize them becomes subjective. It would be more correct to say that there is no such area of biology and medicine where chromatography-mass spectrometry would not find application. This article focuses on the areas of application of this technique that are either relatively new or insufficiently covered in recent reviews. State-of-the-art bioanalytical techniques have become multitargeted in terms of analytes and standardized in terms of matrices. The ability to detect trace concentrations of analytes in the presence of a huge number of biomatrix macrocomponents using chromatography-mass spectrometry is especially important for bioanalytical chemistry. In the target-oriented determination of persistent organic pollutants by chromatography-mass spectrometry, the main problem is the expansion of the list of analytes, including isomers. In the detection of exposures to unstable toxicants, the fragmented adducts of xenobiotics with biomolecules become target biomarkers along with hydrolytic metabolites. The exposome reflects the general exposure of a human being to total xenobiotics and the metabolic status reflects the physiological state of the body. Chromatography-mass spectrometry is a key technique in metabolomics. Metabolomics is currently used to solve the problems of clinical diagnostics and anti-doping control. Biological sample preparation procedures for instrumental analysis are being simplified and developed toward increasing versatility. Proteomic technologies with the use of various versions of mass spectrometry have found application in the development of new methods for diagnosing coronavirus infections.

show abstract

Expanded newborn screening for inborn errors of metabolism by tandem mass spectrometry in newborns from Xinxiang city in China

Cited by 20 publications

References 24 publications

Spectrum analysis of inborn errors of metabolism for expanded newborn screening in a northwestern Chinese population

Spectrum analysis of inborn errors of metabolism for expanded newborn screening in a northwestern Chinese population

Diagnosis, genetic characterization and clinical follow up of mitochondrial fatty acid oxidation disorders in the new era of expanded newborn screening: A single centre experience

Scopes of Bioanalytical Chromatography–Mass Spectrometry

Contact Info

Product

Resources

About