ArticleBMC pediatrics2012
Screening for inborn errors of metabolism in high-risk children: a 3-year pilot study in Zhejiang Province, China.
Article in BMC pediatrics, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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16 citing papers in PubMed.
- Spectrum analysis of inborn errors of metabolism for expanded newborn screening in a northwestern Chinese population.Scientific reports · 2021Trial
- Prevalence and patterns of abnormal metabolic screening in pediatric acute encephalopathy: a PICU study from Egypt.European journal of pediatrics · 2026Article
- Tandem mass spectrometry in screening for inborn errors of metabolism: comprehensive bibliometric analysis.Frontiers in pediatrics · 2025Review
- Spectrum analysis of inborn errors of metabolism for expanded newborn screening in Xinjiang, China.PeerJ · 2024Article
- Clinical characteristics of primary carnitine deficiency: A structured review using a case-by-case approach.Journal of inherited metabolic disease · 2022Review
- Expanded newborn screening for inherited metabolic disorders by tandem mass spectrometry in a northern Chinese population.Frontiers in genetics · 2022Article
- Expanded newborn screening for inborn errors of metabolism by tandem mass spectrometry in newborns from Xinxiang city in China.Journal of clinical laboratory analysis · 2020Article
- Age-Specific Cut-off Values of Amino Acids and Acylcarnitines for Diagnosis of Inborn Errors of Metabolism Using Liquid Chromatography Tandem Mass Spectrometry.BioMed research international · 2019Article
- Global birth prevalence and mortality from inborn errors of metabolism: a systematic analysis of the evidence.Journal of global health · 2018Review
- Research, diagnosis and education in inborn errors of metabolism in Colombia: 20 years' experience from a reference center.Orphanet journal of rare diseases · 2018Review
- Diagnosis and therapeutic monitoring of inborn errors of metabolism in 100,077 newborns from Jining city in China.BMC pediatrics · 2018Article
- Newborn screening for Duchenne muscular dystrophy in China: follow-up diagnosis and subsequent treatment.World journal of pediatrics : WJP · 2017Review
- Outcomes of cases with 3-methylcrotonyl-CoA carboxylase (3-MCC) deficiency - Report from the Inborn Errors of Metabolism Information System.Molecular genetics and metabolism · 2016Article
- Demographic and Clinical Findings in Pediatric Patients Affected by Organic Acidemia.Iranian journal of child neurology · 2016Article
- Clinical spectrum of propionic acidaemia.Journal of nutrition and metabolism · 2013Article
- Demographic and clinical characteristics of the children with aminoacidopathy in Isfahan Province, Central Iran in 2007-2015.Indian journal of endocrinology and metabolismArticle
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5 authors.
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Abstract
backgroundTandem mass spectrometry (MS/MS) has been available in China for 8 years. This technique makes it possible to screen for a wide range of previously unscreened inborn errors of metabolism (IEM) using a single test. This 3-year pilot study investigated the screening, diagnosis, treatment and outcomes of IEM in symptomatic infants and children.
methodsAll children encountered in the Newborn Screening Center of Zhejiang Province during a 3-year period with symptoms suspicious for IEM were screened for metabolic diseases. Dried blood spots were collected and analyzed by tandem mass spectrometry. The diagnoses were further confirmed by clinical symptoms and biochemical analysis. Neonatal intrahepatic cholestasis caused by citrin deficiency, ornithine transcarbamylase deficiency and primary carnitine deficiency were confirmed by DNA analysis.
resultsA total of 11,060 symptomatic patients (6,720 boys, 4,340 girls) with a median age of 28.8 months (range: 0.04-168.2 months) were screened. Among these, 62 were diagnosed with IEM, with a detection rate of 0.56%. Thirty-five were males and 27 females and the median age was 3.55 months (range 0.07-143.9 months). Of the 62 patients, 27 (43.5%) had aminoacidemias, 26 (41.9%) had organic acidemias and nine (14.5%) had fatty acid oxidation disorders.
conclusionsBecause most symptomatic patients are diagnosed at an older age, mental retardation and motor delay are difficult to reverse. Additionally, poor medication compliance reduces the efficacy of treatment. More extensive newborn screening is thus imperative for ensuring early diagnosis and enhancing the treatment efficacy of IEM.
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