• Spectrum analysis of inborn er...

*Result*: Spectrum analysis of inborn errors of metabolism for expanded newborn screening in Xinjiang, China.

Title:
Spectrum analysis of inborn errors of metabolism for expanded newborn screening in Xinjiang, China.
Authors:
Zhu J; Prenatal Diagnosis Center, Urumqi Maternal and Child Health Hospital, Urumqi, Xinjiang Uygur Autonomous Region, China.; Xinjiang Clinical Research Center for Perinatal Diseases, Urumqi, China., Han L; Neonatal Department, Urumqi Maternal and Child Health Hospital, Urumqi, Xinjiang Uygur Autonomous Region, China., Yang P; Prenatal Diagnosis Center, Urumqi Maternal and Child Health Hospital, Urumqi, Xinjiang Uygur Autonomous Region, China., Feng Z; Prenatal Diagnosis Center, Urumqi Maternal and Child Health Hospital, Urumqi, Xinjiang Uygur Autonomous Region, China., Xue S; Prenatal Diagnosis Center, Urumqi Maternal and Child Health Hospital, Urumqi, Xinjiang Uygur Autonomous Region, China.; Xinjiang Clinical Research Center for Perinatal Diseases, Urumqi, China.
Source:
PeerJ [PeerJ] 2024 Dec 09; Vol. 12, pp. e18173. Date of Electronic Publication: 2024 Dec 09 (Print Publication: 2024).
Publication Type:
Journal Article
Language:
English
Journal Info:
Publisher: PeerJ Inc Country of Publication: United States NLM ID: 101603425 Publication Model: eCollection Cited Medium: Internet ISSN: 2167-8359 (Electronic) Linking ISSN: 21678359 NLM ISO Abbreviation: PeerJ Subsets: MEDLINE
Imprint Name(s):
Original Publication: Corte Madera, CA : PeerJ Inc.
MeSH Terms:
Neonatal Screening*/methods , Metabolism, Inborn Errors*/genetics , Metabolism, Inborn Errors*/diagnosis , Metabolism, Inborn Errors*/epidemiology , Phenylketonurias*/genetics , Phenylketonurias*/diagnosis , Phenylketonurias*/epidemiology , Tandem Mass Spectrometry*, China/epidemiology ; Genetic Testing/methods ; Amino Acid Metabolism, Inborn Errors/genetics ; Amino Acid Metabolism, Inborn Errors/diagnosis ; Amino Acid Metabolism, Inborn Errors/epidemiology ; Humans ; Infant, Newborn ; Male ; Female ; High-Throughput Nucleotide Sequencing ; Incidence ; Mutation
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Contributed Indexing:
Keywords: Genetic characteristics; Inborn errors of metabolism; Next generation sequencing; Tandem mass spectrometry
SCR Disease Name:
Methylmalonic acidemia
Entry Date(s):
Date Created: 20241213 Date Completed: 20241213 Latest Revision: 20241214
Update Code:
20260130
PubMed Central ID:
PMC11636536
DOI:
10.7717/peerj.18173
PMID:
39670100
Database:
MEDLINE

*Further Information*

*To determine the disease spectrum and genetic characteristics of inborn errors of metabolism (IEM) in Xinjiang province in the northwest of China, 41,690 newborn babies were screening by tandem mass spectrometry from November 2018 to December 2021. Of these, 57 newborn babies were referred for genetic analysis by next-generation sequencing, which was validated by Sanger sequencing. A total of 36 newborn babies and one relative were diagnosed with IEM, and the overall positive predictive value was 29.03%. The overall incidence of IEM in Xinjiang was 1:1,158 (36/41,690). The incidence of amino acidemias, organic acidemias, and fatty acid oxidation disorder were 1:1,668 (25/41,690), 1:4,632 (9/41,690), and 1:20,845 (2/41,690), respectively. Phenylketonuria and methylmalonic acidemia were the two most common inborn errors of metabolism (IEM), accounting for 83% (30/36) of all confirmed cases. Some hotspot mutations were observed for several IEMs, including PAH gene c.158G > A (p.Arg53His) and c.688G > A (p.Val230Ile) for hyperphenylalaninemia. Four mutation types of the MMACHC gene (e.g., c.609G > A (p.Trp203Ter), c.567dupT (p.Ile190fs)) and six mutation types of the MMUT gene (e.g., c.729_730insT (p.Asp244fs)) were found for methylmalonic acidemia. We also found 11 mutations in six genes: PCCB, IVD, GCDH, MCCC1, SLC22A5, and ACADS in this region. This study combined tandem mass spectrometry and next-generation sequencing technology for the screening and diagnosis of IEM. The study provides effective clinical guidance, and the data provide a basis for expanding newborn screening, genetic screening, and IEM gene consultation in Xinjiang, China.
(© 2024 Zhu et al.)*

*The authors declare that they have no competing interests.*