[Screening for fatty acid oxidation disorders of newborns in Zhejiang province:prevalence, outcome and follow-up].

• DOI: 10.3785/j.issn.1008-9292.2017.06.04
• Publication Date: 2017-05-25
• Authors: Jiping Zheng; Y Zhang; Hong Fang; Junpeng Yang; Fan Tong; Hua Mao; Xiaolei Huang; Xuelian Zhou; Rulai Yang; Zixuan Zhao
• Keywords: Carnitine O-palmitoyltransferase; Acyl CoA dehydrogenase

To screen fatty acid oxidation disorders (FAOD) in newborns Zhejiang province.A total of 1 861 262 were screened for FAOD Neonatal Screening Center Province during January 2009 and December 2016. The blood samples from by tandem mass spectrometry, diagnosis was confirmed urine organic measurement combined with genetic analysis. prognosis follow-up patients also evaluated.Of screened, 121 cases diagnosed. Among FAOD, primary carnitine deficiency (PCD) the most common type (n=78, 64.5%), which followed short-chain acyl-CoA dehydrogenase (SCADD, n=27, 22.3%), medium-chain (n=5, 4.1%), multiple (MADD, n=4, 3.3%), very long-chain (n=3, 2.5%), palmitoyltransferase Ⅰ deficiency(n=2, 1.7%)and Ⅱ (CPTⅡD, n=2, 1.7%). During 2-82 month follow-up, 15 lost, 4 dead (1 PCD, MADD, 2 CPTⅡD), remaining 102 subjects had normal intelligence physical development without any clinical symptoms.PCD SCADD are FAODs province. Most asymptomatic, have growth after early intervention management.