Abstract | OBJECTIVE: To analyze the result and follow-up data of screening for newborn amino acid metabolic disorders in Zhejiang province. METHODS: A 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. RESULTS: One 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. CONCLUSIONS:
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Authors | Xinwen Huang, Yu Zhang, Fang Hong, Jing Zheng, Jianbin Yang, Fan Tong, Huaqing Mao, Xiaolei Huang, Xuelian Zhou, Rulai Yang, Zhengyan Zhao |
Journal | Zhejiang da xue xue bao. Yi xue ban = Journal of Zhejiang University. Medical sciences
(Zhejiang Da Xue Xue Bao Yi Xue Ban)
Vol. 46
Issue 3
Pg. 233-239
(05 25 2017)
ISSN: 1008-9292 [Print] China |
PMID | 29039163
(Publication Type: Journal Article)
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Topics |
- Amino Acid Metabolism, Inborn Errors
(diagnosis, epidemiology, therapy)
- China
(epidemiology)
- Follow-Up Studies
- Humans
- Infant, Newborn
- Neonatal Screening
- Prevalence
- Retrospective Studies
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