Abstract
BackgroundTandem mass spectrometry is a powerful technology available in China over the last 15 years. The development of tandem mass spectrometry had made it possible to rapidly screen newborns for inborn errors of metabolism. The aim of this study was to determine the birth incidence of inborn errors of metabolism through expanded screening of newborns by tandem mass spectrometry in Xinxiang area.MethodsDried blood spots from 50 112 newborns were assessed for inborn errors of metabolism by tandem mass spectrometry. The diagnoses were confirmed based on the clinical features, conventional laboratory tests, and the organic acid levels tested in urine by gas chromatography‐mass spectrometry.ResultsThe study findings revealed that 31 newborns were diagnosed with inborn errors of metabolism. The total incidence rate of inborn errors of metabolism was 1/1617, and these included 16 cases of amino acid disorders (51.6%), nine cases of organic acid disorders (29.0%), and 6 (19.4%) cases of fatty acid beta‐oxidation disorders.ConclusionsThe screening for the incidence of inborn errors of metabolism in Xinxiang area showed that the rate was higher than previously reported. This study provides valuable data which may be useful in facilitating improvements in the expansion of screening to enable early diagnosis and treatment of inborn errors of metabolism before the onset of symptoms.
Highlights
Inborn errors of metabolism (IEM) are a large group of complex and rare genetic diseases caused by a severe deficiency in enzymes or carrier proteins function.[1]
Over the last few decades, tandem mass spectrometry (MS/MS) was introduced as a powerful technology used in newborn screening
In addition to the amino acids and acylcarnitine's levels, diagnosis of the disorder was confirmed through clinical features, conventional laboratory tests, and organic acid levels in urine as tested by gas chromatography-mass spectrometry.[6]
Summary
Inborn errors of metabolism (IEM) are a large group of complex and rare genetic diseases caused by a severe deficiency in enzymes or carrier proteins function.[1]. Individual metabolic diseases are relatively rare, IEM collectively presents a significant healthcare burden. Diagnosis is important to timely treatment, thereby preventing IEM related mortality and morbidity. Newborn screening for IEM is a vital and efficient approach for early diagnosis of serious inherited disorders in apparently healthy newborns and pre-symptomatic treatment to improve their survival. Over the last few decades, tandem mass spectrometry (MS/MS) was introduced as a powerful technology used in newborn screening. Analyses of amino acids and acylcarnitine in blood have led to simultaneous detection of three groups of IEM which include amino acid disorders, organic acid disorders, and fatty acid beta-oxidation disorders
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