Targeted metabolomics in the expanded newborn screening for inborn errors of metabolism

2015 ◽  
Vol 11 (6) ◽  
pp. 1525-1535 ◽  
Author(s):  
Emanuela Scolamiero ◽  
Carla Cozzolino ◽  
Lucia Albano ◽  
Antonella Ansalone ◽  
Marianna Caterino ◽  
...  
Keyword(s):  
Newborn Screening ◽  
Metabolic Profiling ◽  
Inborn Errors Of Metabolism ◽  
Biological Fluids ◽  
Targeted Metabolomics ◽  
Inborn Errors ◽  
Expanded Newborn Screening ◽  
High Incidence

This paper highlights the importance of metabolic profiling by LC-MS/MS and GC-MS of biological fluids for diagnosis of inborn errors of metabolism and confirms a high incidence of these disorders.

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

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Ruixue Zhang ◽  
Rong Qiang ◽  
Chengrong Song ◽  
Xiaoping Ma ◽  
Yan Zhang ◽  
...  
Keyword(s):  
Newborn Screening ◽  
Inborn Errors Of Metabolism ◽  
Northwest China ◽  
Methylmalonic Acidemia ◽  
Shaanxi Province ◽  
Inborn Errors ◽  
Organic Acidurias ◽  
Genetic Characteristics ◽  
Disease Spectrum ◽  
Expanded Newborn Screening

AbstractExpanded 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.

The first territory-wide expanded newborn screening for inborn errors of metabolism in Hong Kong: a pilot study

Pathology ◽  
2017 ◽  
Vol 49 ◽  
pp. S98 ◽  
Author(s):  
Ching-wan Lam ◽  
Chun-yiu Law ◽  
Chloe Miu Mak ◽  
Wai-kwan Siu ◽  
Hencher Han-Chih Lee ◽  
...  
Keyword(s):  
Hong Kong ◽  
Pilot Study ◽  
Newborn Screening ◽  
Inborn Errors Of Metabolism ◽  
Inborn Errors ◽  
Expanded Newborn Screening

Expanded Newborn Screening for Inborn Errors of Metabolism

2012 ◽  
Vol 59 (1) ◽  
pp. 209-245 ◽  
Author(s):  
Angela Sun ◽  
Christina Lam ◽  
Derek A. Wong
Keyword(s):  
Newborn Screening ◽  
Inborn Errors Of Metabolism ◽  
Inborn Errors ◽  
Expanded Newborn Screening
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