ArticleZhejiang da xue xue bao. Yi xue ban = Journal of Zhejiang University. Medical sciences2017
[Screening for amino acid metabolic disorders of newborns in Zhejiang province:prevalence, outcome and follow-up].
Article in Zhejiang da xue xue bao. Yi xue ban = Journal of Zhejiang University. Medical sciences, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
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8 citing papers in PubMed, 9 citations in OpenAlex.
- Newborn Screening for Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency and Analysis ofInternational journal of neonatal screening · 2026Article
- Advancements and insights into newborn screening with tandem mass spectrometry in China: a comprehensive descriptive analysis (2017-2021).BMJ paediatrics open · 2026Article
- A retrospective cross-sectional study on newborn screening and prevalence of disorders among UAE population.Frontiers in pediatrics · 2026Article
- Epidemiology and distribution of 207 rare diseases in China: A systematic literature review.Intractable & rare diseases research · 2024Review
- Cost-effectiveness analysis of newborn screening by tandem mass spectrometry in Shenzhen, China: value and affordability of new screening technology.BMC health services research · 2022Article
- A preliminary investigation of amino acid and acylcarnitine levels in neonates from the Tibet autonomous.Frontiers in genetics · 2022Article
- Screening for neonatal inherited metabolic disorders by tandem mass spectrometry in Guangzhou.Zhejiang da xue xue bao. Yi xue ban = Journal of Zhejiang University. Medical sciences · 2021Article
- Incidence and prevalence of 121 rare diseases in China: Current status and challenges.Intractable & rare diseases research · 2019Review
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11 authors at 1 institution in 1 country.
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Abstract
objectiveTo analyze the result and follow-up data of screening for newborn amino acid metabolic disorders in Zhejiang province.
methodsA total of 1 861 262 newborns were screened for amino acid metabolic disorders during January 2009 and December 2016 in Zhejiang province. The screening results and the follow-up data were analyzed retrospectively.
resultsOne hundred and sixty four cases were diagnosed as amino acid metabolic disorders with a prevalence of 1:11 349, including 83 with hyperphenylalaninaemia (1:22 400), 29 with neonatal intrahepatic cholestasis caused by citrin deficiency (1:64 138), 16 with methionine S-adenosyltransferase deficiency (1:116 250), 9 with maple syrup urine disease (1:206 667), 8 with argininemia (1:232 500), 7 with citrullinemia type Ⅰ (1:265 700), 6 with hyperprolinemia type Ⅰ (1:310 000), and 2 with carbamylphosphate synthetase Ⅰ deficiency(1:930 000). In addition, ornithine transcarbamylase deficiency, cystathionine β-synthase deficiency, argininosucoinate aciduria and tyrosinemia type Ⅰ were detected in one patient for each, respectively. Two patients had developmental delay, 7 patients were dead, and 2 cases of maple syrup urine disease were lost to follow-up.
conclusionsHyperphenylalaninaemia is the most common amino acid metabolic disease in newborns in Zhejiang province. Patients with amino acid metabolic disorders identified in newborn screening program can have chance for normal growth development by intervention.
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